名古屋学芸大学の紹介

教員組織

教員の教育・研究活動報告

所属と職名	管理栄養学部管理栄養学科
ふりがな	おおのきんじ
教員氏名	大野欽司
英語表記	Kinji Ohno
生年	1958年
学歴	名古屋大学医学部医学科(1983年)
学歴	名古屋大学大学院医学系研究科神経内科学専攻(1992年)
学位	学士（医学）［名古屋大学］
学位	博士（医学）［名古屋大学］
現在の研究分野	データサイエンス、分子生物学、人類遺伝学、神経内科学
現在の研究テーマ	バイオメディカルデータサイエンス神経筋接合部分子病態機構パーキンソン病の腸脳相関分子状水素の作用機構超低周波変動微弱磁場の量子作用機構

主な研究業績

【著書】
題名	単・共の別	発行日	発行所名	備考


Gut Microbiota Changes and Parkinson’s Disease: What Do We Know, Which Avenues Ahead	共	2023	Springer Nature	最終著者
Neurodegeneration-associated RNA-binding protein, FUS, regulates mRNA length	共	2016	AoS Nordic AB	最終著者
A hereditary mutation in Schwartz-Jampel syndrome	共	2015	AoS Nordic AB	最終著者
Molecular Genetics of Congenital Myasthenic Syndromes	共	2014	John Wiley & Sons	第1著者
Chapter 2: Intronic and exonic nucleotide variations that affect RNA splicing in humans	共	2013	iConcept Press	最終著者
Congenital Myasthenic Syndromes- Molecular Bases of Congenital Defects of Proteins at the Neuromuscular Junction -Neuromuscular Disorders	共	2012	InTech	第1著者
Chapter 8: Molecular defects of acetylcholine receptor subunits in congenital myasthenic syndromes	共	2011	Research Signpost	第1著者
RNA pathologies in neurological disorders	共	2011	Springer	第1著者
Molecular Insights into Acetylcholine Receptor Structure and Function Revealed by Mutations Causing Congenital Myasthenic Syndromes	共	2004	Elsevier Science	最終著者
Chapter 66: Congenital myasthenic syndromes	共	2004	McGraw Hill	第2著者
Congenital myasthenic syndromes	共	2003	Butterworth and Heinemann	第2著者
Chapter 13: Congenital myasthenic syndromes	共	2002	Lippincott Williams & Wilkins	最終著者
Congenital Myasthenic Syndromes	共	2002	ISN Neuropath Press	第2著者
Acetylcholine receptor channelopathies and other congenital myasthenic syndromes	共	2001	Butterworth and Heinemann	最終著者
Congenital myasthenic syndromes	共	2000	Karger	第2著者
Congenital myasthenic syndromes	共	1999	Oxford University Press	第2著者
Painful muscle stiffness after twenty weeks of gestation in four patients with myotonic dystrophy type 1 (DM1) and a patient with paramyotonia congenita (PMC)	共	2025	J Neuromuscul Dis	最終著者
Desulfovibrio falkowii sp. nov., Porphyromonas miyakawae sp. nov., Mediterraneibacter flintii sp. nov. and Owariibacterium komagatae gen. nov., sp. nov., isolated from human faeces	共	2025	Int J Syst Evol Microbiol	最終著者
Blending and separating dynamics of RNA-binding proteins develop architectural splicing networks spreading throughout the nucleus	共	2024	Mol Cell	最終著者
Soy protein β-conglycinin ameliorates pressure overload-induced heart failure by increasing short-chain fatty acid (SCFA)-producing gut microbiota and intestinal SCFAs	共	2024	Clin Nutr	最終著者
Transcriptome profile of subsynaptic myonuclei at the neuromuscular junction in embryogenesis	共	2024	J Neurochem	最終著者
Calcitriol ameliorates motor deficits and prolongs survival of Chrne-deficient mouse, a model for congenital myasthenic syndrome, by inducing Rspo2	共	2024	Neurotherapeutics	最終著者
Dyssegmental dysplasia Rolland-Desbuquois type is caused by pathogenic variants in HSPG2 - a founder haplotype shared in five patients	共	2024	J Hum Genet	最終著者
Extremely Low Frequency, Extremely Low Magnetic Environment for depression: An open-label trial	共	2024	Asian J Psychiatr	最終著者
Meta-analysis of shotgun sequencing of gut microbiota in Parkinson's disease	共	2024	NPJ Parkinsons Dis	最終著者
Muscle-specific lack of Gfpt1 triggers ER stress to alleviate misfolded protein accumulation	共	2024	Dis Model Mech	最終著者
A class of chemical compounds enhances clustering of muscle nicotinic acetylcholine receptor in cultured myogenic cells	共	2024	Biochem Biophys Res Commun	最終著者
Extremely Low-Frequency Electromagnetic Field (ELF-EMF) Increases Mitochondrial Electron Transport Chain Activities and Ameliorates Depressive Behaviors in Mice	共	2024	Int J Mol Sci	最終著者
A mutation in DOK7 in congenital myasthenic syndrome forms aggresome in cultured cells, and reduces DOK7 expression and MuSK phosphorylation in patient-derived iPS cells	共	2023	Hum Mol Genet	最終著者
Extremely low-frequency electromagnetic field induces acetylation of heat shock proteins and enhances protein folding	共	2023	Ecotoxicol Environ Saf	最終著者
Splicing regulation of GFPT1 muscle-specific isoform and its roles in glucose metabolisms and neuromuscular junction	共	2023	iScience	最終著者
FexSplice: A LightGBM-Based Model for Predicting the Splicing Effect of a Single Nucleotide Variant Affecting the First Nucleotide G of an Exon	共	2023	Genes (Basel)	最終著者
Clinical and Pathologic Features of Congenital Myasthenic Syndromes Caused by 35 Genes-A Comprehensive Review	共	2023	Int J Mol Sci	第1著者, 総説
Gastrointestinal disorders in Parkinson's disease and other Lewy body diseases	共	2023	NPJ Parkinsons Dis	最終著者, 総説
Meclozine ameliorates skeletal muscle pathology and increases muscle forces in mdx mice	共	2022	Biochem Biophys Res Commun	最終著者
Promethazine Downregulates Wnt/β-Catenin Signaling and Increases the Biomechanical Forces of the Injured Achilles Tendon in the Early Stage of Healing	共	2022	Am J Sports Med	最終著者
Extremely low-frequency pulses of faint magnetic field induce mitophagy to rejuvenate mitochondria	共	2022	Commun Biol	最終著者
Short chain fatty acids-producing and mucin-degrading intestinal bacteria predict the progression of early Parkinson's disease	共	2022	NPJ Parkinsons Dis	最終著者
Examination of Abnormal Alpha-synuclein Aggregates in the Enteric Neural Plexus in Patients with Ulcerative Colitis	共	2022	J Gastrointestin Liver Dis	最終著者
Gut microbiota in dementia with Lewy bodies	共	2022	NPJ Parkinsons Dis	最終著者
Effects of Pesticide Intake on Gut Microbiota and Metabolites in Healthy Adults	共	2022	Int J Environ Res Public Health	最終著者
Molecular Hydrogen Enhances Proliferation of Cancer Cells That Exhibit Potent Mitochondrial Unfolded Protein Response	共	2022	Int J Mol Sci	最終著者, 総説
Electrolyzed-Reduced Water: Review II: Safety Concerns and Effectiveness as a Source of Hydrogen Water	共	2022	Int J Mol Sci	最終著者, 総説
Electrolyzed-Reduced Water: Review I. Molecular Hydrogen Is the Exclusive Agent Responsible for the Therapeutic Effects	共	2022	Int J Mol Sci	最終著者, 総説
Zonisamide upregulates neuregulin-1 expression and enhances acetylcholine receptor clustering at the in vitro neuromuscular junction	共	2021	Neuropharmacology	最終著者
IntSplice2: Prediction of the Splicing Effects of Intronic Single-Nucleotide Variants Using LightGBM Modeling	共	2021	Front Genet	最終著者
Regulated splicing of large exons is linked to phase-separation of vertebrate transcription factors	共	2021	EMBO J	最終著者
Intestinal Collinsella may mitigate infection and exacerbation of COVID-19 by producing ursodeoxycholate	共	2021	PLoS One	最終著者
Parkinson's Disease and Gut Microbiota	共	2021	Ann Nutr Metab	最終著者, 総説
Secreted Signaling Molecules at the Neuromuscular Junction in Physiology and Pathology	共	2021	Int J Mol Sci	最終著者, 総説
Rapidly Growing Protein-Centric Technologies to Extensively Identify Protein-RNA Interactions: Application to the Analysis of Co-Transcriptional RNA Processing	共	2021	Int J Mol Sci	最終著者, 総説
Freeze-drying enables homogeneous and stable sample preparation for determination of fecal short-chain fatty acids	共	2020	Anal Biochem	最終著者
Inhibition of cyclooxygenase-1 by nonsteroidal anti-inflammatory drugs demethylates MeR2 enhancer and promotes Mbnl1 transcription in myogenic cells	共	2020	Sci Rep	最終著者
Author Correction: Mianserin suppresses R-spondin 2-induced activation of Wnt/β-catenin signaling in chondrocytes and prevents cartilage degradation in a rat model of osteoarthritis	共	2020	Sci Rep	最終著者
tRIP-seq reveals repression of premature polyadenylation by co-transcriptional FUS-U1 snRNP assembly	共	2020	EMBO Rep	最終著者
Meta-Analysis of Gut Dysbiosis in Parkinson's Disease	共	2020	Mov Disord	最終著者
CTGF/CCN2 facilitates LRP4-mediated formation of the embryonic neuromuscular junction	共	2020	EMBO Rep	最終著者
Zonisamide ameliorates progression of cervical spondylotic myelopathy in a rat model	共	2020	Sci Rep	最終著者
Zonisamide ameliorates neuropathic pain partly by suppressing microglial activation in the spinal cord in a mouse model	共	2020	Life Sci	最終著者
Gene Expression Profile at the Motor Endplate of the Neuromuscular Junction of Fast-Twitch Muscle	共	2020	Front Mol Neurosci	最終著者
Short-Chain Fatty Acid-Producing Gut Microbiota Is Decreased in Parkinson's Disease but Not in Rapid-Eye-Movement Sleep Behavior Disorder	共	2020	mSystems	最終著者
InMeRF: prediction of pathogenicity of missense variants by individual modeling for each amino acid substitution	共	2020	NAR Genom Bioinform	最終著者
Mianserin suppresses R-spondin 2-induced activation of Wnt/β-catenin signaling in chondrocytes and prevents cartilage degradation in a rat model of osteoarthritis	共	2019	Sci Rep	最終著者
Lack of Fgf18 causes abnormal clustering of motor nerve terminals at the neuromuscular junction with reduced acetylcholine receptor clusters	共	2018	Sci Rep	最終著者
Molecular hydrogen upregulates heat shock response and collagen biosynthesis, and downregulates cell cycles: meta-analyses of gene expression profiles	共	2018	Free Radic Res	最終著者
Differential effects of spinal motor neuron-derived and skeletal muscle-derived Rspo2 on acetylcholine receptor clustering at the neuromuscular junction	共	2018	Sci Rep	最終著者
Quantification of hydrogen production by intestinal bacteria that are specifically dysregulated in Parkinson's disease	共	2018	PLoS One	最終著者
Inhalation of hydrogen gas elevates urinary 8-hydroxy-2'-deoxyguanine in Parkinson's disease	共	2018	Med Gas Res	最終著者
Rules and tools to predict the splicing effects of exonic and intronic mutations	共	2018	Wiley Interdiscip Rev RNA	第1著者, 総説
Protein-anchoring therapy to target extracellular matrix proteins to their physiological destinations	共	2018	Matrix Biol	最終著者, 総説
Molecular hydrogen alleviates motor deficits and muscle degeneration in mdx mice	共	2017	Redox Rep	最終著者
Protein-Anchoring Therapy of Biglycan for Mdx Mouse Model of Duchenne Muscular Dystrophy	共	2017	Hum Gene Ther	最終著者
Competitive regulation of alternative splicing and alternative polyadenylation by hnRNP H and CstF64 determines acetylcholinesterase isoforms	共	2017	Nucleic Acids Res	最終著者
Six GU-rich (6GU(R)) FUS-binding motifs detected by normalization of CLIP-seq by Nascent-seq	共	2017	Gene	最終著者
Wnt/β-catenin signaling suppresses expressions of Scx, Mkx, and Tnmd in tendon-derived cells	共	2017	PLoS One	最終著者
SRSF1 suppresses selection of intron-distal 5' splice site of DOK7 intron 4 to generate functional full-length Dok-7 protein	共	2017	Sci Rep	最終著者
Fluoxetine ameliorates cartilage degradation in osteoarthritis by inhibiting Wnt/β-catenin signaling	共	2017	PLoS One	最終著者
Splicing regulation and dysregulation of cholinergic genes expressed at the neuromuscular junction	共	2017	J Neurochem	第1著者, 総説
Agrin-LRP4-MuSK signaling as a therapeutic target for myasthenia gravis and other neuromuscular disorders	共	2017	Expert Opin Ther Targets	第1著者, 総説
Tranilast stimulates endochondral ossification by upregulating SOX9 and RUNX2 promoters	共	2016	Biochem Biophys Res Commun	最終著者
Correction: Zonisamide Enhances Neurite Elongation of Primary Motor Neurons and Facilitates Peripheral Nerve Regeneration In Vitro and in a Mouse Model	共	2016	PLoS One	最終著者
Hydrogen-rich water ameliorates bronchopulmonary dysplasia (BPD) in newborn rats	共	2016	Pediatr Pulmonol	最終著者
IntSplice: prediction of the splicing consequences of intronic single-nucleotide variations in the human genome	共	2016	J Hum Genet	最終著者
R-spondin 2 facilitates differentiation of proliferating chondrocytes into hypertrophic chondrocytes by enhancing Wnt/β-catenin signaling in endochondral ossification	共	2016	Biochem Biophys Res Commun	最終著者
Serum Tyrosine-to-Phenylalanine Ratio is Low in Parkinson's Disease	共	2016	J Parkinsons Dis	最終著者
Phenylbutazone induces expression of MBNL1 and suppresses formation of MBNL1-CUG RNA foci in a mouse model of myotonic dystrophy	共	2016	Sci Rep	最終著者
R-spondin 2 promotes acetylcholine receptor clustering at the neuromuscular junction via Lgr5	共	2016	Sci Rep	最終著者
Molecular hydrogen suppresses activated Wnt/β-catenin signaling	共	2016	Sci Rep	最終著者
Roles of collagen Q in MuSK antibody-positive myasthenia gravis	共	2016	Chem Biol Interact	第1著者, 総説
Repositioning again of zonisamide for nerve regeneration	共	2016	Neural Regen Res	第1著者, 総説
Is the serum creatine kinase level elevated in congenital myasthenic syndrome	共	2016	J Neurol Neurosurg Psychiatry	第1著者, 総説
FUS-mediated regulation of alternative RNA processing in neurons: insights from global transcriptome analysis	共	2016	Wiley Interdiscip Rev RNA	最終著者, 総説
Congenital myasthenic syndrome in Japan: ethnically unique mutations in muscle nicotinic acetylcholine receptor subunits	共	2015	Neuromuscul Disord	最終著者
Meclozine promotes longitudinal skeletal growth in transgenic mice with achondroplasia carrying a gain-of-function mutation in the FGFR3 gene	共	2015	Endocrinology	最終著者
Noninvasive monitoring of plasma L-dopa concentrations using sweat samples in Parkinson's disease	共	2015	Clin Chim Acta	最終著者
Position-specific binding of FUS to nascent RNA regulates mRNA length	共	2015	Genes Dev	最終著者
A missense mutation in domain III in HSPG2 in Schwartz-Jampel syndrome compromises secretion of perlecan into the extracellular space	共	2015	Neuromuscul Disord	最終著者
SRSF1 and hnRNP H antagonistically regulate splicing of COLQ exon 16 in a congenital myasthenic syndrome	共	2015	Sci Rep	最終著者
Collagen Q and anti-MuSK autoantibody competitively suppress agrin/LRP4/MuSK signaling	共	2015	Sci Rep	最終著者
Zonisamide Enhances Neurite Elongation of Primary Motor Neurons and Facilitates Peripheral Nerve Regeneration In Vitro and in a Mouse Model	共	2015	PLoS One	最終著者
Lansoprazole Upregulates Polyubiquitination of the TNF Receptor-Associated Factor 6 and Facilitates Runx2-mediated Osteoblastogenesis	共	2015	EBioMedicine	最終著者
Beneficial biological effects and the underlying mechanisms of molecular hydrogen - comprehensive review of 321 original articles	共	2015	Med Gas Res	最終著者, 総説
LRP4 third β-propeller domain mutations cause novel congenital myasthenia by compromising agrin-mediated MuSK signaling in a position-specific manner	共	2014	Hum Mol Genet	最終著者
Verapamil protects against cartilage degradation in osteoarthritis by inhibiting Wnt/β-catenin signaling	共	2014	PLoS One	最終著者
LDB3 splicing abnormalities are specific to skeletal muscles of patients with myotonic dystrophy type 1 and alter its PKC binding affinity	共	2014	Neurobiol Dis	最終著者
LRP4 induces extracellular matrix productions and facilitates chondrocyte differentiation	共	2014	Biochem Biophys Res Commun	最終著者
HnRNP C, YB-1 and hnRNP L coordinately enhance skipping of human MUSK exon 10 to generate a Wnt-insensitive MuSK isoform	共	2014	Sci Rep	最終著者
Mutation analysis of a large cohort of GNE myopathy reveals a diverse array of GNE mutations affecting sialic acid biosynthesis	共	2014	J Neurol Neurosurg Psychiatry	第1著者, 総説
Collagen Q is a key player for developing rational therapy for congenital myasthenia and for dissecting the mechanisms of anti-MuSK myasthenia gravis	共	2014	J Mol Neurosci	第1著者, 総説
Clinically applicable antianginal agents suppress osteoblastic transformation of myogenic cells and heterotopic ossifications in mice	共	2013	J Bone Miner Metab	最終著者
Mutations in the C-terminal domain of ColQ in endplate acetylcholinesterase deficiency compromise ColQ-MuSK interaction	共	2013	Hum Mutat	最終著者
HnRNP L and hnRNP LL antagonistically modulate PTB-mediated splicing suppression of CHRNA1 pre-mRNA	共	2013	Sci Rep	最終著者
Meclozine facilitates proliferation and differentiation of chondrocytes by attenuating abnormally activated FGFR3 signaling in achondroplasia	共	2013	PLoS One	最終著者
Specific binding of collagen Q to the neuromuscular junction is exploited to cure congenital myasthenia and to explore bases of myasthenia gravis	共	2013	Chem Biol Interact	第1著者, 総説
Glycosylation defects as an emerging novel cause leading to a limb-girdle type of congenital myasthenic syndromes	共	2013	J Neurol Neurosurg Psychiatry	第1著者, 総説
CUGBP1 and MBNL1 preferentially bind to 3' UTRs and facilitate mRNA decay	共	2012	Sci Rep	最終著者
Protein-anchoring strategy for delivering acetylcholinesterase to the neuromuscular junction	共	2012	Mol Ther	最終著者
Four parameters increase the sensitivity and specificity of the exon array analysis and disclose 25 novel aberrantly spliced exons in myotonic dystrophy	共	2012	J Hum Genet	最終著者
Drinking hydrogen water and intermittent hydrogen gas exposure, but not lactulose or continuous hydrogen gas exposure, prevent 6-hydorxydopamine-induced Parkinson's disease in rats	共	2012	Med Gas Res	最終著者
Position-dependent FUS-RNA interactions regulate alternative splicing events and transcriptions	共	2012	Sci Rep	最終著者
Molecular hydrogen as an emerging therapeutic medical gas for neurodegenerative and other diseases	共	2012	Oxid Med Cell Longev	第1著者, 総説
AG-dependent 3'-splice sites are predisposed to aberrant splicing due to a mutation at the first nucleotide of an exon	共	2011	Nucleic Acids Res	最終著者
Hyperuricemia cosegregating with osteogenesis imperfecta is associated with a mutation in GPATCH8	共	2011	Hum Genet	最終著者
Anti-MuSK autoantibodies block binding of collagen Q to MuSK	共	2011	Neurology	最終著者
Open-label trial and randomized, double-blind, placebo-controlled, crossover trial of hydrogen-enriched water for mitochondrial and inflammatory myopathies	共	2011	Med Gas Res	最終著者
Tannic acid facilitates expression of the polypyrimidine tract binding protein and alleviates deleterious inclusion of CHRNA1 exon P3A due to an hnRNP H-disrupting mutation in congenital myasthenic syndrome	共	2009	Hum Mol Genet	最終著者
Molecular hydrogen is protective against 6-hydroxydopamine-induced nigrostriatal degeneration in a rat model of Parkinson's disease	共	2009	Neurosci Lett	最終著者
Human branch point consensus sequence is yUnAy	共	2008	Nucleic Acids Res	最終著者
hnRNP H enhances skipping of a nonfunctional exon P3A in CHRNA1 and a mutation disrupting its binding causes congenital myasthenic syndrome	共	2008	Hum Mol Genet	最終著者
In vitro and in silico analysis reveals an efficient algorithm to predict the splicing consequences of mutations at the 5' splice sites	共	2007	Nucleic Acids Res	最終著者
Thermodynamic instability of siRNA duplex is a prerequisite for dependable prediction of siRNA activities	共	2007	Nucleic Acids Res	最終著者
Spectrum of splicing errors caused by CHRNE mutations affecting introns and intron/exon boundaries	共	2005	J Med Genet	第1著者
Subunit-specific contribution to agonist binding and channel gating revealed by inherited mutation in muscle acetylcholine receptor M3-M4 linker.	共	2005	Brain	第2著者
Splicing abnormalities in congenital myasthenic syndromes	共	2005	Acta Myol	第1著者, 総説
Congenital myasthenic syndromes: gene mutations	共	2004	Neuromuscul Disord	第1著者
Lack of founder haplotype for the rapsyn N88K mutation: N88K is an ancient founder mutation or arises from multiple founders	共	2004	J Med Genet	第1著者
C-terminal and heparin-binding domains of collagenic tail subunit are both essential for anchoring acetylcholinesterase at the synapse.	共	2004	J Biol Chem	第2著者
Myofibrillar myopathy: clinical, morphological and genetic studies in 63 patients.	共	2004	Brain	第2著者
Novel truncating RAPSN mutations causing congenital myasthenic syndrome responsive to 3,4-diaminopyridine.	共	2004	Neuromuscul Disord	第2著者
E-box mutations in the RAPSN promoter region in eight cases with congenital myasthenic syndrome	共	2003	Hum Mol Genet	第1著者
A frameshifting mutation in CHRNE unmasks skipping of the preceding exon	共	2003	Hum Mol Genet	第1著者
Congenital myasthenic syndromes:gene mutations	共	2003	Neuromuscul Disord	第1著者
Congenital myasthenic syndromes: progress over the past decade.	共	2003	Muscle Nerve	第2著者
Mutation causing severe myasthenia reveals functional asymmetry of AChR signature cystine loops in agonist binding and gating.	共	2003	J Clin Invest	第2著者
Congenital myasthenic syndromes	共	2003	Eur J Paediatr Neurol	第1著者, 総説
Sleuthing molecular targets for neurological diseases at the neuromuscular junction.	共	2003	Nat Rev Neurosci	第2著者, 総説
Congenital myasthenic syndromes: multiple molecular targets at the neuromuscular junction.	共	2003	Ann N Y Acad Sci	第2著者, 総説
Congenital myasthenic syndromes: A diverse array of molecular targets.	共	2003	J Neurocytol	第2著者, 総説
Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome	共	2002	Am J Hum Genet	第1著者
Congenital myasthenic syndrome caused by low-expressor fast-channel AChR delta subunit mutation.	共	2002	Neurology	第2著者
Congenital myasthenic syndromes: genetic defects of the neuromuscular junction	共	2002	Curr Neurol Neurosci Rep	第1著者, 総説
The spectrum of congenital myasthenic syndromes.	共	2002	Mol Neurobiol	第2著者, 総説
Congenital myasthenic syndromes	共	2002	Adv Neurol	最終著者, 総説
Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans	共	2001	Proc Natl Acad Sci U S A	第1著者
The spectrum of mutations causing end-plate acetylcholinesterase deficiency	共	2000	Ann Neurol	第1著者
Congenital myasthenic syndromes: gene mutations	共	2000	Neuromuscul Disord	第1著者
Fundamental gating mechanism of nicotinic receptor channel revealed by mutation causing a congenital myasthenic syndrome.	共	2000	J Gen Physiol	第2著者
Congenital myasthenic syndrome caused by a mutation in the Ets-binding site of the promoter region of the acetylcholine receptor epsilon subunit gene	共	1999	Neuromuscul Disord	第1著者
Congenital end-plate acetylcholinesterase deficiency caused by a nonsense mutation and an A-->G splice-donor-site mutation at position +3 of the collagenlike-tail-subunit gene (COLQ): how does G at position +3 result in aberrant splicing	共	1999	Am J Hum Genet	第1著者
Chromosome 17p-linked myasthenias stem from defects in the acetylcholine receptor epsilon-subunit gene.	共	1999	Neurology	第2著者
Mutation causing congenital myasthenia reveals acetylcholine receptor beta/delta subunit interaction essential for assembly.	共	1999	J Clin Invest	第2著者
Congenital myasthenic syndromes: recent advances.	共	1999	Arch Neurol	第2著者, 総説
Congenital myasthenic syndromes: gene mutation	共	1998	Neuromuscul Disord	第1著者
Human endplate acetylcholinesterase deficiency caused by mutations in the collagen-like tail subunit (ColQ) of the asymmetric enzyme	共	1998	Proc Natl Acad Sci U S A	第1著者
Myasthenic syndromes in Turkish kinships due to mutations in the acetylcholine receptor	共	1998	Ann Neurol	第1著者
Quinidine normalizes the open duration of slow-channel mutants of the acetylcholine receptor.	共	1998	Neuroreport	第2著者
Congenital myasthenic syndromes: experiments of nature.	共	1998	J Physiol Paris	第2著者
Frameshifting and splice-site mutations in the acetylcholine receptor epsilon subunit gene in three Turkish kinships with congenital myasthenic syndromes	共	1998	Ann N Y Acad Sci	第1著者, 総説
Congenital myasthenic syndromes. New insights from molecular genetic and patch-clamp studies.	共	1998	Ann N Y Acad Sci	第2著者, 総説
Congenital myasthenic syndrome caused by novel loss-of-function mutations in the human AChR epsilon subunit gene.	共	1998	Ann N Y Acad Sci	第2著者, 総説
AChR channel blockade by quinidine sulfate reduces channel open duration in the slow-channel congenital myasthenic syndrome.	共	1998	Ann N Y Acad Sci	第2著者, 総説
Congenital myasthenic syndromes due to heteroallelic nonsense/missense mutations in the acetylcholine receptor epsilon subunit gene: identification and functional characterization of six new mutations	共	1997	Hum Mol Genet	第1著者
Congenital myasthenic syndrome caused by decreased agonist binding affinity due to a mutation in the acetylcholine receptor epsilon subunit	共	1996	Neuron	第1著者
New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome.	共	1996	Hum Mol Genet	第2著者
End-plate acetylcholine receptor deficiency due to nonsense mutations in the epsilon subunit.	共	1996	Ann Neurol	第2著者
Congenital myasthenic syndrome caused by prolonged acetylcholine receptor channel openings due to a mutation in the M2 domain of the epsilon subunit	共	1995	Proc Natl Acad Sci U S A	第1著者
Mutation of the acetylcholine receptor alpha subunit causes a slow-channel myasthenic syndrome by enhancing agonist binding affinity.	共	1995	Neuron	第2著者
Identification of a possible control element, Mt5, in the major noncoding region of mitochondrial DNA by intraspecific nucleotide conservation	共	1991	Biochem Int	第1著者
Direct DNA sequencing from colony: analysis of multiple deletions of mitochondrial genome	共	1991	Biochim Biophys Acta	第1著者
Mitochondrial DNA deletions in inherited recurrent myoglobinuria	共	1991	Ann Neurol	第1著者
Cytoplasmic body and mitochondrial DNA deletion.	共	1990	J Neurol Sci	第2著者

【学術論文】
題名	単・共の別	発行又は発表日	発行雑誌又は発行学会等の名称	備考
Painful muscle stiffness after twenty weeks of gestation in four patients with myotonic dystrophy type 1 (DM1) and a patient with paramyotonia congenita (PMC)	共	2025	J Neuromuscul Dis	最終著者
Desulfovibrio falkowii sp. nov., Porphyromonas miyakawae sp. nov., Mediterraneibacter flintii sp. nov. and Owariibacterium komagatae gen. nov., sp. nov., isolated from human faeces	共	2025	Int J Syst Evol Microbiol	最終著者
Blending and separating dynamics of RNA-binding proteins develop architectural splicing networks spreading throughout the nucleus	共	2024	Mol Cell	最終著者
Soy protein β-conglycinin ameliorates pressure overload-induced heart failure by increasing short-chain fatty acid (SCFA)-producing gut microbiota and intestinal SCFAs	共	2024	Clin Nutr	最終著者
Transcriptome profile of subsynaptic myonuclei at the neuromuscular junction in embryogenesis	共	2024	J Neurochem	最終著者
Calcitriol ameliorates motor deficits and prolongs survival of Chrne-deficient mouse, a model for congenital myasthenic syndrome, by inducing Rspo2	共	2024	Neurotherapeutics	最終著者
Dyssegmental dysplasia Rolland-Desbuquois type is caused by pathogenic variants in HSPG2 - a founder haplotype shared in five patients	共	2024	J Hum Genet	最終著者
Extremely Low Frequency, Extremely Low Magnetic Environment for depression: An open-label trial	共	2024	Asian J Psychiatr	最終著者
Meta-analysis of shotgun sequencing of gut microbiota in Parkinson's disease	共	2024	NPJ Parkinsons Dis	最終著者
Muscle-specific lack of Gfpt1 triggers ER stress to alleviate misfolded protein accumulation	共	2024	Dis Model Mech	最終著者
A class of chemical compounds enhances clustering of muscle nicotinic acetylcholine receptor in cultured myogenic cells	共	2024	Biochem Biophys Res Commun	最終著者
Extremely Low-Frequency Electromagnetic Field (ELF-EMF) Increases Mitochondrial Electron Transport Chain Activities and Ameliorates Depressive Behaviors in Mice	共	2024	Int J Mol Sci	最終著者
A mutation in DOK7 in congenital myasthenic syndrome forms aggresome in cultured cells, and reduces DOK7 expression and MuSK phosphorylation in patient-derived iPS cells	共	2023	Hum Mol Genet	最終著者
Extremely low-frequency electromagnetic field induces acetylation of heat shock proteins and enhances protein folding	共	2023	Ecotoxicol Environ Saf	最終著者
Splicing regulation of GFPT1 muscle-specific isoform and its roles in glucose metabolisms and neuromuscular junction	共	2023	iScience	最終著者
FexSplice: A LightGBM-Based Model for Predicting the Splicing Effect of a Single Nucleotide Variant Affecting the First Nucleotide G of an Exon	共	2023	Genes (Basel)	最終著者
Clinical and Pathologic Features of Congenital Myasthenic Syndromes Caused by 35 Genes-A Comprehensive Review	共	2023	Int J Mol Sci	第1著者, 総説
Gastrointestinal disorders in Parkinson's disease and other Lewy body diseases	共	2023	NPJ Parkinsons Dis	最終著者, 総説
Meclozine ameliorates skeletal muscle pathology and increases muscle forces in mdx mice	共	2022	Biochem Biophys Res Commun	最終著者
Promethazine Downregulates Wnt/β-Catenin Signaling and Increases the Biomechanical Forces of the Injured Achilles Tendon in the Early Stage of Healing	共	2022	Am J Sports Med	最終著者
Extremely low-frequency pulses of faint magnetic field induce mitophagy to rejuvenate mitochondria	共	2022	Commun Biol	最終著者
Short chain fatty acids-producing and mucin-degrading intestinal bacteria predict the progression of early Parkinson's disease	共	2022	NPJ Parkinsons Dis	最終著者
Examination of Abnormal Alpha-synuclein Aggregates in the Enteric Neural Plexus in Patients with Ulcerative Colitis	共	2022	J Gastrointestin Liver Dis	最終著者
Gut microbiota in dementia with Lewy bodies	共	2022	NPJ Parkinsons Dis	最終著者
Effects of Pesticide Intake on Gut Microbiota and Metabolites in Healthy Adults	共	2022	Int J Environ Res Public Health	最終著者
Molecular Hydrogen Enhances Proliferation of Cancer Cells That Exhibit Potent Mitochondrial Unfolded Protein Response	共	2022	Int J Mol Sci	最終著者, 総説
Electrolyzed-Reduced Water: Review II: Safety Concerns and Effectiveness as a Source of Hydrogen Water	共	2022	Int J Mol Sci	最終著者, 総説
Electrolyzed-Reduced Water: Review I. Molecular Hydrogen Is the Exclusive Agent Responsible for the Therapeutic Effects	共	2022	Int J Mol Sci	最終著者, 総説
Zonisamide upregulates neuregulin-1 expression and enhances acetylcholine receptor clustering at the in vitro neuromuscular junction	共	2021	Neuropharmacology	最終著者
IntSplice2: Prediction of the Splicing Effects of Intronic Single-Nucleotide Variants Using LightGBM Modeling	共	2021	Front Genet	最終著者
Regulated splicing of large exons is linked to phase-separation of vertebrate transcription factors	共	2021	EMBO J	最終著者
Intestinal Collinsella may mitigate infection and exacerbation of COVID-19 by producing ursodeoxycholate	共	2021	PLoS One	最終著者
Parkinson's Disease and Gut Microbiota	共	2021	Ann Nutr Metab	最終著者, 総説
Secreted Signaling Molecules at the Neuromuscular Junction in Physiology and Pathology	共	2021	Int J Mol Sci	最終著者, 総説
Rapidly Growing Protein-Centric Technologies to Extensively Identify Protein-RNA Interactions: Application to the Analysis of Co-Transcriptional RNA Processing	共	2021	Int J Mol Sci	最終著者, 総説
Freeze-drying enables homogeneous and stable sample preparation for determination of fecal short-chain fatty acids	共	2020	Anal Biochem	最終著者
Inhibition of cyclooxygenase-1 by nonsteroidal anti-inflammatory drugs demethylates MeR2 enhancer and promotes Mbnl1 transcription in myogenic cells	共	2020	Sci Rep	最終著者
Author Correction: Mianserin suppresses R-spondin 2-induced activation of Wnt/β-catenin signaling in chondrocytes and prevents cartilage degradation in a rat model of osteoarthritis	共	2020	Sci Rep	最終著者
tRIP-seq reveals repression of premature polyadenylation by co-transcriptional FUS-U1 snRNP assembly	共	2020	EMBO Rep	最終著者
Meta-Analysis of Gut Dysbiosis in Parkinson's Disease	共	2020	Mov Disord	最終著者
CTGF/CCN2 facilitates LRP4-mediated formation of the embryonic neuromuscular junction	共	2020	EMBO Rep	最終著者
Zonisamide ameliorates progression of cervical spondylotic myelopathy in a rat model	共	2020	Sci Rep	最終著者
Zonisamide ameliorates neuropathic pain partly by suppressing microglial activation in the spinal cord in a mouse model	共	2020	Life Sci	最終著者
Gene Expression Profile at the Motor Endplate of the Neuromuscular Junction of Fast-Twitch Muscle	共	2020	Front Mol Neurosci	最終著者
Short-Chain Fatty Acid-Producing Gut Microbiota Is Decreased in Parkinson's Disease but Not in Rapid-Eye-Movement Sleep Behavior Disorder	共	2020	mSystems	最終著者
InMeRF: prediction of pathogenicity of missense variants by individual modeling for each amino acid substitution	共	2020	NAR Genom Bioinform	最終著者
Mianserin suppresses R-spondin 2-induced activation of Wnt/β-catenin signaling in chondrocytes and prevents cartilage degradation in a rat model of osteoarthritis	共	2019	Sci Rep	最終著者
Lack of Fgf18 causes abnormal clustering of motor nerve terminals at the neuromuscular junction with reduced acetylcholine receptor clusters	共	2018	Sci Rep	最終著者
Molecular hydrogen upregulates heat shock response and collagen biosynthesis, and downregulates cell cycles: meta-analyses of gene expression profiles	共	2018	Free Radic Res	最終著者
Differential effects of spinal motor neuron-derived and skeletal muscle-derived Rspo2 on acetylcholine receptor clustering at the neuromuscular junction	共	2018	Sci Rep	最終著者
Quantification of hydrogen production by intestinal bacteria that are specifically dysregulated in Parkinson's disease	共	2018	PLoS One	最終著者
Inhalation of hydrogen gas elevates urinary 8-hydroxy-2'-deoxyguanine in Parkinson's disease	共	2018	Med Gas Res	最終著者
Rules and tools to predict the splicing effects of exonic and intronic mutations	共	2018	Wiley Interdiscip Rev RNA	第1著者, 総説
Protein-anchoring therapy to target extracellular matrix proteins to their physiological destinations	共	2018	Matrix Biol	最終著者, 総説
Molecular hydrogen alleviates motor deficits and muscle degeneration in mdx mice	共	2017	Redox Rep	最終著者
Protein-Anchoring Therapy of Biglycan for Mdx Mouse Model of Duchenne Muscular Dystrophy	共	2017	Hum Gene Ther	最終著者
Competitive regulation of alternative splicing and alternative polyadenylation by hnRNP H and CstF64 determines acetylcholinesterase isoforms	共	2017	Nucleic Acids Res	最終著者
Six GU-rich (6GU(R)) FUS-binding motifs detected by normalization of CLIP-seq by Nascent-seq	共	2017	Gene	最終著者
Wnt/β-catenin signaling suppresses expressions of Scx, Mkx, and Tnmd in tendon-derived cells	共	2017	PLoS One	最終著者
SRSF1 suppresses selection of intron-distal 5' splice site of DOK7 intron 4 to generate functional full-length Dok-7 protein	共	2017	Sci Rep	最終著者
Fluoxetine ameliorates cartilage degradation in osteoarthritis by inhibiting Wnt/β-catenin signaling	共	2017	PLoS One	最終著者
Splicing regulation and dysregulation of cholinergic genes expressed at the neuromuscular junction	共	2017	J Neurochem	第1著者, 総説
Agrin-LRP4-MuSK signaling as a therapeutic target for myasthenia gravis and other neuromuscular disorders	共	2017	Expert Opin Ther Targets	第1著者, 総説
Tranilast stimulates endochondral ossification by upregulating SOX9 and RUNX2 promoters	共	2016	Biochem Biophys Res Commun	最終著者
Correction: Zonisamide Enhances Neurite Elongation of Primary Motor Neurons and Facilitates Peripheral Nerve Regeneration In Vitro and in a Mouse Model	共	2016	PLoS One	最終著者
Hydrogen-rich water ameliorates bronchopulmonary dysplasia (BPD) in newborn rats	共	2016	Pediatr Pulmonol	最終著者
IntSplice: prediction of the splicing consequences of intronic single-nucleotide variations in the human genome	共	2016	J Hum Genet	最終著者
R-spondin 2 facilitates differentiation of proliferating chondrocytes into hypertrophic chondrocytes by enhancing Wnt/β-catenin signaling in endochondral ossification	共	2016	Biochem Biophys Res Commun	最終著者
Serum Tyrosine-to-Phenylalanine Ratio is Low in Parkinson's Disease	共	2016	J Parkinsons Dis	最終著者
Phenylbutazone induces expression of MBNL1 and suppresses formation of MBNL1-CUG RNA foci in a mouse model of myotonic dystrophy	共	2016	Sci Rep	最終著者
R-spondin 2 promotes acetylcholine receptor clustering at the neuromuscular junction via Lgr5	共	2016	Sci Rep	最終著者
Molecular hydrogen suppresses activated Wnt/β-catenin signaling	共	2016	Sci Rep	最終著者
Roles of collagen Q in MuSK antibody-positive myasthenia gravis	共	2016	Chem Biol Interact	第1著者, 総説
Repositioning again of zonisamide for nerve regeneration	共	2016	Neural Regen Res	第1著者, 総説
Is the serum creatine kinase level elevated in congenital myasthenic syndrome	共	2016	J Neurol Neurosurg Psychiatry	第1著者, 総説
FUS-mediated regulation of alternative RNA processing in neurons: insights from global transcriptome analysis	共	2016	Wiley Interdiscip Rev RNA	最終著者, 総説
Congenital myasthenic syndrome in Japan: ethnically unique mutations in muscle nicotinic acetylcholine receptor subunits	共	2015	Neuromuscul Disord	最終著者
Meclozine promotes longitudinal skeletal growth in transgenic mice with achondroplasia carrying a gain-of-function mutation in the FGFR3 gene	共	2015	Endocrinology	最終著者
Noninvasive monitoring of plasma L-dopa concentrations using sweat samples in Parkinson's disease	共	2015	Clin Chim Acta	最終著者
Position-specific binding of FUS to nascent RNA regulates mRNA length	共	2015	Genes Dev	最終著者
A missense mutation in domain III in HSPG2 in Schwartz-Jampel syndrome compromises secretion of perlecan into the extracellular space	共	2015	Neuromuscul Disord	最終著者
SRSF1 and hnRNP H antagonistically regulate splicing of COLQ exon 16 in a congenital myasthenic syndrome	共	2015	Sci Rep	最終著者
Collagen Q and anti-MuSK autoantibody competitively suppress agrin/LRP4/MuSK signaling	共	2015	Sci Rep	最終著者
Zonisamide Enhances Neurite Elongation of Primary Motor Neurons and Facilitates Peripheral Nerve Regeneration In Vitro and in a Mouse Model	共	2015	PLoS One	最終著者
Lansoprazole Upregulates Polyubiquitination of the TNF Receptor-Associated Factor 6 and Facilitates Runx2-mediated Osteoblastogenesis	共	2015	EBioMedicine	最終著者
Beneficial biological effects and the underlying mechanisms of molecular hydrogen - comprehensive review of 321 original articles	共	2015	Med Gas Res	最終著者, 総説
LRP4 third β-propeller domain mutations cause novel congenital myasthenia by compromising agrin-mediated MuSK signaling in a position-specific manner	共	2014	Hum Mol Genet	最終著者
Verapamil protects against cartilage degradation in osteoarthritis by inhibiting Wnt/β-catenin signaling	共	2014	PLoS One	最終著者
LDB3 splicing abnormalities are specific to skeletal muscles of patients with myotonic dystrophy type 1 and alter its PKC binding affinity	共	2014	Neurobiol Dis	最終著者
LRP4 induces extracellular matrix productions and facilitates chondrocyte differentiation	共	2014	Biochem Biophys Res Commun	最終著者
HnRNP C, YB-1 and hnRNP L coordinately enhance skipping of human MUSK exon 10 to generate a Wnt-insensitive MuSK isoform	共	2014	Sci Rep	最終著者
Mutation analysis of a large cohort of GNE myopathy reveals a diverse array of GNE mutations affecting sialic acid biosynthesis	共	2014	J Neurol Neurosurg Psychiatry	第1著者, 総説
Collagen Q is a key player for developing rational therapy for congenital myasthenia and for dissecting the mechanisms of anti-MuSK myasthenia gravis	共	2014	J Mol Neurosci	第1著者, 総説
Clinically applicable antianginal agents suppress osteoblastic transformation of myogenic cells and heterotopic ossifications in mice	共	2013	J Bone Miner Metab	最終著者
Mutations in the C-terminal domain of ColQ in endplate acetylcholinesterase deficiency compromise ColQ-MuSK interaction	共	2013	Hum Mutat	最終著者
HnRNP L and hnRNP LL antagonistically modulate PTB-mediated splicing suppression of CHRNA1 pre-mRNA	共	2013	Sci Rep	最終著者
Meclozine facilitates proliferation and differentiation of chondrocytes by attenuating abnormally activated FGFR3 signaling in achondroplasia	共	2013	PLoS One	最終著者
Specific binding of collagen Q to the neuromuscular junction is exploited to cure congenital myasthenia and to explore bases of myasthenia gravis	共	2013	Chem Biol Interact	第1著者, 総説
Glycosylation defects as an emerging novel cause leading to a limb-girdle type of congenital myasthenic syndromes	共	2013	J Neurol Neurosurg Psychiatry	第1著者, 総説
CUGBP1 and MBNL1 preferentially bind to 3' UTRs and facilitate mRNA decay	共	2012	Sci Rep	最終著者
Protein-anchoring strategy for delivering acetylcholinesterase to the neuromuscular junction	共	2012	Mol Ther	最終著者
Four parameters increase the sensitivity and specificity of the exon array analysis and disclose 25 novel aberrantly spliced exons in myotonic dystrophy	共	2012	J Hum Genet	最終著者
Drinking hydrogen water and intermittent hydrogen gas exposure, but not lactulose or continuous hydrogen gas exposure, prevent 6-hydorxydopamine-induced Parkinson's disease in rats	共	2012	Med Gas Res	最終著者
Position-dependent FUS-RNA interactions regulate alternative splicing events and transcriptions	共	2012	Sci Rep	最終著者
Molecular hydrogen as an emerging therapeutic medical gas for neurodegenerative and other diseases	共	2012	Oxid Med Cell Longev	第1著者, 総説
AG-dependent 3'-splice sites are predisposed to aberrant splicing due to a mutation at the first nucleotide of an exon	共	2011	Nucleic Acids Res	最終著者
Hyperuricemia cosegregating with osteogenesis imperfecta is associated with a mutation in GPATCH8	共	2011	Hum Genet	最終著者
Anti-MuSK autoantibodies block binding of collagen Q to MuSK	共	2011	Neurology	最終著者
Open-label trial and randomized, double-blind, placebo-controlled, crossover trial of hydrogen-enriched water for mitochondrial and inflammatory myopathies	共	2011	Med Gas Res	最終著者
Tannic acid facilitates expression of the polypyrimidine tract binding protein and alleviates deleterious inclusion of CHRNA1 exon P3A due to an hnRNP H-disrupting mutation in congenital myasthenic syndrome	共	2009	Hum Mol Genet	最終著者
Molecular hydrogen is protective against 6-hydroxydopamine-induced nigrostriatal degeneration in a rat model of Parkinson's disease	共	2009	Neurosci Lett	最終著者
Human branch point consensus sequence is yUnAy	共	2008	Nucleic Acids Res	最終著者
hnRNP H enhances skipping of a nonfunctional exon P3A in CHRNA1 and a mutation disrupting its binding causes congenital myasthenic syndrome	共	2008	Hum Mol Genet	最終著者
In vitro and in silico analysis reveals an efficient algorithm to predict the splicing consequences of mutations at the 5' splice sites	共	2007	Nucleic Acids Res	最終著者
Thermodynamic instability of siRNA duplex is a prerequisite for dependable prediction of siRNA activities	共	2007	Nucleic Acids Res	最終著者
Spectrum of splicing errors caused by CHRNE mutations affecting introns and intron/exon boundaries	共	2005	J Med Genet	第1著者
Subunit-specific contribution to agonist binding and channel gating revealed by inherited mutation in muscle acetylcholine receptor M3-M4 linker.	共	2005	Brain	第2著者
Splicing abnormalities in congenital myasthenic syndromes	共	2005	Acta Myol	第1著者, 総説
Congenital myasthenic syndromes: gene mutations	共	2004	Neuromuscul Disord	第1著者
Lack of founder haplotype for the rapsyn N88K mutation: N88K is an ancient founder mutation or arises from multiple founders	共	2004	J Med Genet	第1著者
C-terminal and heparin-binding domains of collagenic tail subunit are both essential for anchoring acetylcholinesterase at the synapse.	共	2004	J Biol Chem	第2著者
Myofibrillar myopathy: clinical, morphological and genetic studies in 63 patients.	共	2004	Brain	第2著者
Novel truncating RAPSN mutations causing congenital myasthenic syndrome responsive to 3,4-diaminopyridine.	共	2004	Neuromuscul Disord	第2著者
E-box mutations in the RAPSN promoter region in eight cases with congenital myasthenic syndrome	共	2003	Hum Mol Genet	第1著者
A frameshifting mutation in CHRNE unmasks skipping of the preceding exon	共	2003	Hum Mol Genet	第1著者
Congenital myasthenic syndromes:gene mutations	共	2003	Neuromuscul Disord	第1著者
Congenital myasthenic syndromes: progress over the past decade.	共	2003	Muscle Nerve	第2著者
Mutation causing severe myasthenia reveals functional asymmetry of AChR signature cystine loops in agonist binding and gating.	共	2003	J Clin Invest	第2著者
Congenital myasthenic syndromes	共	2003	Eur J Paediatr Neurol	第1著者, 総説
Sleuthing molecular targets for neurological diseases at the neuromuscular junction.	共	2003	Nat Rev Neurosci	第2著者, 総説
Congenital myasthenic syndromes: multiple molecular targets at the neuromuscular junction.	共	2003	Ann N Y Acad Sci	第2著者, 総説
Congenital myasthenic syndromes: A diverse array of molecular targets.	共	2003	J Neurocytol	第2著者, 総説
Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome	共	2002	Am J Hum Genet	第1著者
Congenital myasthenic syndrome caused by low-expressor fast-channel AChR delta subunit mutation.	共	2002	Neurology	第2著者
Congenital myasthenic syndromes: genetic defects of the neuromuscular junction	共	2002	Curr Neurol Neurosci Rep	第1著者, 総説
The spectrum of congenital myasthenic syndromes.	共	2002	Mol Neurobiol	第2著者, 総説
Congenital myasthenic syndromes	共	2002	Adv Neurol	最終著者, 総説
Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans	共	2001	Proc Natl Acad Sci U S A	第1著者
The spectrum of mutations causing end-plate acetylcholinesterase deficiency	共	2000	Ann Neurol	第1著者
Congenital myasthenic syndromes: gene mutations	共	2000	Neuromuscul Disord	第1著者
Fundamental gating mechanism of nicotinic receptor channel revealed by mutation causing a congenital myasthenic syndrome.	共	2000	J Gen Physiol	第2著者
Congenital myasthenic syndrome caused by a mutation in the Ets-binding site of the promoter region of the acetylcholine receptor epsilon subunit gene	共	1999	Neuromuscul Disord	第1著者
Congenital end-plate acetylcholinesterase deficiency caused by a nonsense mutation and an A-->G splice-donor-site mutation at position +3 of the collagenlike-tail-subunit gene (COLQ): how does G at position +3 result in aberrant splicing	共	1999	Am J Hum Genet	第1著者
Chromosome 17p-linked myasthenias stem from defects in the acetylcholine receptor epsilon-subunit gene.	共	1999	Neurology	第2著者
Mutation causing congenital myasthenia reveals acetylcholine receptor beta/delta subunit interaction essential for assembly.	共	1999	J Clin Invest	第2著者
Congenital myasthenic syndromes: recent advances.	共	1999	Arch Neurol	第2著者, 総説
Congenital myasthenic syndromes: gene mutation	共	1998	Neuromuscul Disord	第1著者
Human endplate acetylcholinesterase deficiency caused by mutations in the collagen-like tail subunit (ColQ) of the asymmetric enzyme	共	1998	Proc Natl Acad Sci U S A	第1著者
Myasthenic syndromes in Turkish kinships due to mutations in the acetylcholine receptor	共	1998	Ann Neurol	第1著者
Quinidine normalizes the open duration of slow-channel mutants of the acetylcholine receptor.	共	1998	Neuroreport	第2著者
Congenital myasthenic syndromes: experiments of nature.	共	1998	J Physiol Paris	第2著者
Frameshifting and splice-site mutations in the acetylcholine receptor epsilon subunit gene in three Turkish kinships with congenital myasthenic syndromes	共	1998	Ann N Y Acad Sci	第1著者, 総説
Congenital myasthenic syndromes. New insights from molecular genetic and patch-clamp studies.	共	1998	Ann N Y Acad Sci	第2著者, 総説
Congenital myasthenic syndrome caused by novel loss-of-function mutations in the human AChR epsilon subunit gene.	共	1998	Ann N Y Acad Sci	第2著者, 総説
AChR channel blockade by quinidine sulfate reduces channel open duration in the slow-channel congenital myasthenic syndrome.	共	1998	Ann N Y Acad Sci	第2著者, 総説
Congenital myasthenic syndromes due to heteroallelic nonsense/missense mutations in the acetylcholine receptor epsilon subunit gene: identification and functional characterization of six new mutations	共	1997	Hum Mol Genet	第1著者
Congenital myasthenic syndrome caused by decreased agonist binding affinity due to a mutation in the acetylcholine receptor epsilon subunit	共	1996	Neuron	第1著者
New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome.	共	1996	Hum Mol Genet	第2著者
End-plate acetylcholine receptor deficiency due to nonsense mutations in the epsilon subunit.	共	1996	Ann Neurol	第2著者
Congenital myasthenic syndrome caused by prolonged acetylcholine receptor channel openings due to a mutation in the M2 domain of the epsilon subunit	共	1995	Proc Natl Acad Sci U S A	第1著者
Mutation of the acetylcholine receptor alpha subunit causes a slow-channel myasthenic syndrome by enhancing agonist binding affinity.	共	1995	Neuron	第2著者
Identification of a possible control element, Mt5, in the major noncoding region of mitochondrial DNA by intraspecific nucleotide conservation	共	1991	Biochem Int	第1著者
Direct DNA sequencing from colony: analysis of multiple deletions of mitochondrial genome	共	1991	Biochim Biophys Acta	第1著者
Mitochondrial DNA deletions in inherited recurrent myoglobinuria	共	1991	Ann Neurol	第1著者
Cytoplasmic body and mitochondrial DNA deletion.	共	1990	J Neurol Sci	第2著者

【学会発表等】
題名	単・共の別	発行又は発表日	発行学会等の名称	備考
Congenital myasthenic syndrome	単	2025.06.14	2025 Neurological Diseases Education, Taichung, Taiwan	招待講演演者
Genetic Analysis of Congenital Myasthenic Syndromes	単	2025.05.13	MGFA 15th International Conference, Hague, Netherland	招待講演演者
Hydrogen exerts its effects on a variety of diseases as a signaling molecule	単	2024.09.13	Keynote Presentation at Hydrogen Summit, Salt Lake City, USA	招待講演演者
Congenital myasthenic syndromes: Review of 38 causal genes	単	2024.09.12	22nd Annual Meeting of Asian Oceanian Myology Center and 10th Annual Meeting of Japan Muscle Society, Nara, Japan	招待講演演者
Gut microbiota in dementia with Lewy bodies	単	2023.10.06	2nd MCI Symposium, Kyoto, Japan	招待講演演者
Updates on congenital myasthenic syndromes	単	2022.06.09	20th Asian Oceanian Myology Center Meeting, Jakarta, Indonesia	招待講演演者
Three newly identified molecules that facilitate the formation of neuromuscular junction	単	2022.05.08	XIIth International Symposium on Cholinergic Mechanisms, Dubrovnik, Croatia	招待講演演者
Congenital myasthenic syndromes	単	2018.07.06	15th International Congress of Neuromuscular Diseases, Vienna, Austria	招待講演演者
Splicing regulations in neuromuscular diseases	共	2018.06.14	11th Japanese-French Workshop on Muscular Dystrophies, Kodaira, Tokyo	招待講演演者
Decoding aberrant splicing code in human diseases	単	2017.10.06	FAN Symposium, Freiburg, Germany	招待講演演者
Splicing regulation of the human acetylcholinesterase gene	共	2016.10.16	XVth International Symposium on Cholinergic Mechanisms, Marseille, France	招待講演演者
Molecular hydrogen as an emerging therapeutic agent for neurological and neuromuscular disorders	単	2016.09.27	Symposium on Molecular Hydrogen as Emerging Therapeutic Agent and Its Clinical Application, Seoul, Korea	招待講演演者
Roles of collagen Q in MuSK antibody‐positive myasthenia gravis	単	2015.10.27	12th International Meeting of Cholinesterases, Alicante, Spain	招待講演演者
Physiology and hereditary/autoimmune pathology of acetylcholine receptor clustering at the neuromuscular junction	単	2015.07.02	10th Japanese-French Workshop, Paris, France	招待講演演者
Maintenance of the neuromuscular junction and its aberrations in hereditary and autoimmune disorders	単	2014.09.01	Guarda-Symposium 2014 on the Molecular and Cell Biology of the Neuromuscular System, Guarda, Switzerland	招待講演演者
Molecular hydrogen on oxidative stress diseases in nervous system	単	2013.06.20	36th Annual Meeting of the Japan Neuroscience Society, Kyoto, Japan	招待講演演者
Collagen Q is a key player for developing rational therapy for congenital myasthenia and for causing anti-MuSK myasthenia gravis	共	2013.05.05	XIV International Symposium on Cholinergic Mechanisms, Hangzhou, China	招待講演演者
RNA diseases caused by defects in cis-acting elements and trans-acting factors	単	2013.03.07	Danish-Japanese joint seminar on aberrant RNA splicing in neuromuscular disease	招待講演演者
Global mapping and global expression profiling of RNA-binding proteins that are associated with neurological and neuromuscular diseases	単	2012.09.18	35th Annual Meeting of the Japan Neuroscience Society, Nagoya, Japan	招待講演演者
Molecular bases and therapeutic intervention of neuromuscular transmission defects	単	2012.09.07	Ninth French-Japanese Workshop on Muscular Dystrophies, Tokyo, Japan	招待講演演者
Congenital defects of neuromuscular signal transduction	単	2012.06.18	3rd Berlin Summer School for Myology, Berlin, Germany	招待講演演者
Specific binding of collagen Q to the neuromuscular junction is exploited to cure congenital myasthenia and to explore bases of myasthenia gravis	単	2012.06.04	11th International Meeting on Cholinesterases, Kazan, Russia	招待講演演者
Degeneracy of splicing cis-elements and tolerance to disease-causing mutations	単	2009.11.26	2nd GCOE International Symposium, Nagoya, Japan	招待講演演者
Molecular mechanisms and regulations of congenital neuromuscular transmission defects	単	2009.07.06	Université Paris Descartes Séminaire, Paris, France	招待講演演者
Protein anchoring therapy for endplate acetylcholinesterase deficiency	共	2009.07.03	Eighth French-Japanese Workshop on Muscular Dystrophies, Paris, France	招待講演演者
Degeneracy of Splicing Cis-Elements and Tolerance to Disease-Causing Mutations in Human	単	2008.12.13	The expanding world of post-transcriptional regulation of gene expression, Tokyo, Japan	招待講演演者
Underestimated aberrant splicings in neuromuscular disorders	単	2005.08.08	Spaciotemporal Network of RNA Information Flow International Symposium 2005, Hirosaki, Japan	招待講演演者
Splicing abnormalities in congenital myasthenic syndromes	共	2005.07.01	Sixth French-Japanese Workshop on Muscular Dystrophies , Paris, France	招待講演演者
Congenital endplate acetylcholinesterase deficiency	共	1998.08.30	IXth International Congress on Neuromuscular Diseases (Surprise box), Adelaide, Australia	招待講演演者
Molecular genetic basis of a slow channel syndrome	共	1995.07.10	VIIIth International Congress on Neuromuscular Diseases (Surprise Box), Kyoto, Japan	招待講演演者

主な教育上の業績

【大学教育の改善に関する活動】
活動事項	年月	備考
名古屋大学大学院医学系研究科副研究科長	2009年4月〜2020年3月	大学院教育委員長(2013〜2016)ならびに研究担当副研究科長(2017〜2020)として大学院教育の実質化と大学院研究の高度化を推進した。
名古屋大学総長補佐	2017年4月〜2020年3月	研究担当・評価担当として大学院教育研究の高品質化を推進した。
名古屋大学副総長	2020年4月〜2022年3月	病院・産学連携・広報担当として学部教育研究・大学院教育研究の企業との連携ならびに市民に対する広報を推進した。
名古屋学芸大学教養教育機構副機構長	2024年4月〜	教養教育の運営ならびに改善を推進している。
名古屋学芸大学学長補佐	2025年4月〜	研究担当学長補佐として卒業研究・大学院研究の高度化を推進している。

主な職務上の業績

【資格・免許】
資格・免許の名称	取得年月	発行者・登録番号	備考
医師免許	1983年5月	厚生大臣・272680
神経内科専門医	1987年7月	日本神経学会・1046
内科学会認定医	2004年4月	日本内科学会・81126
第2種情報処理技術者	1986年12月	通商産業大臣・21858756
第1種情報処理技術者	1988年1月	通商産業大臣・11908135

所属学会

【所属学会名称】
学会名称	Society for Neuroscience, American Society of Human Genetics, 日本筋学会（副理事長）,日本分子状水素医学生物学会（理事）, 日本神経学会, 日本神経化学会（評議員）, 日本分子生物学会. 日本内科学会

【所属学会役員歴等】
学会及び役員名	年月期間（年月）	備考
日本分子状水素医学生物学会・理事	2011年2月～
日本神経学会・代議員	2005年5月～2023年6月
日本神経化学会・評議員	2012年9月～
日本筋学会・理事	2015年2月～2019年7月
日本筋学会・副理事長	2019年8月～

主な職歴

事項	期間（年月）	備考
国立名古屋病院研修医	1983年6月〜1985年3月
国立名古屋病院神経内科	1985年4月〜1988年3月
名古屋大学大学院医学系研究科大学院博士課程	1988年4月〜1992年3月
日本学術振興会特別研究員	1992年4月〜1993年3月
米国メイヨクリニック・リサーチフェロー	1993年4月〜1996年3月
米国メイヨクリニック・リサーチアソシエイト	1996年4月〜1998年3月
米国メイヨ医科大学・アシスタントプロフェッサー	1998年4月〜2004年8月
名古屋大学大学院医学系研究科・神経遺伝情報学・教授	2004年9月〜2024年3月
名古屋大学大学院医学系研究科・副研究科長(兼任)	2009年4月〜2020年3月
名古屋大学総長補佐(兼任)	2017年4月〜2020年3月
名古屋大学副総長(兼任)	2020年4月〜2022年3月
名古屋学芸大学・管理栄養学部・教授	2024年4月〜
名古屋学芸大学・教養教育機構・副機構長(兼任)	2024年4月〜
名古屋学芸大学・学長補佐(研究担当)(兼任)	2025年4月〜

受賞学術賞

受賞事項	年月	備考
Neurology Research Award, Mayo Clinic	1995年

科学研究費等外部資金導入実績

名称	題名	年月	機関名	備考
科研費　基盤研究(B)(一般)	先天性筋無力症候群に関与する神経筋接合部分子の分子病態研究	2005 年度～ 2006 年度	日本学術振興会	研究代表者
科研費　特定領域研究（RNA）	神経筋疾患の原因となるpre-mRNAスプライシング異常症の分子病態研究	2005 年度～ 2006 年度	文部科学省	研究代表者
厚生労働科学研究費補助金「こころの健康科学研究事業」	終板アセチルコリンエステラーゼ欠損症、及び、他の細胞外マトリックス分子欠損症におけるタンパク標的療法の開発研究	2005 年度～ 2007 年度	厚生労働省	研究代表者
科研費　特定領域研究（ゲノム）	ヒトゲノム配列解析によるＲＮＡスプライシングとＲＮＡ代謝機構の研究	2006 年度～ 2007 年度	文部科学省	研究代表者
科研費　挑戦的萌芽研究	mRNAの1次塩基配列と2次構造予測に基づくsiRNA設計アルゴリズムの開発研究	2006 年度～ 2006 年度	文部科学省	研究代表者
科研費　基盤研究(B)(一般)	神経筋接合分子欠損症および他の筋疾患におけるmRNA病態研究と治療法開発研究	2007 年度～ 2008 年度	日本学術振興会	研究代表者
科研費　特定領域研究（ゲノム4領域・生命システム情報）	In silico解析とin vitro解析によるＲＮＡスプライシング機構の研究	2008 年度～ 2009 年度	文部科学省	研究代表者
地域イノベーション創出総合支援事業「シーズ発掘試験」	分子状水素の抗酸化作用分子機構の解明と新規生理活性分子の同定による神経変性疾患発症予防法の開発	2009 年度～ 2009 年度	独立行政法人科学技術振興機構	研究代表者
科研費　基盤研究(B)(一般)	神経筋接合分子欠損症におけるmRNA病態研究と治療法開発研究	2009 年度～ 2011 年度	日本学術振興会	研究代表者
戦略的国際科学技術協力推進事業　日本（JST）－デンマーク（DASTI）研究交流	神経筋疾患におけるスプライシング異常	2009 年度～ 2012 年度	独立行政法人科学技術振興機構	研究代表者
厚生労働科学研究費補助金　難治性疾患克服研究事業	先天性筋無力症候群の診断・病態・治療法開発研究	2010 年度～ 2012 年度	厚生労働省	研究代表者
知財活用支援事業科学技術コモンズ試験費・技術移転調査費	筋強直性ジストロフィー治療薬の開発	2010 年度～ 2011 年度	独立行政法人科学技術振興機構	研究代表者
科研費　基盤研究(B)(一般)	神経筋接合部の正常構築と分子病態研究	2012 年度～ 2014 年度	日本学術振興会	研究代表者
厚生労働科学研究費補助金（障害者対策総合研究開発事業）	下部神経管閉鎖障害の病態・制御研究	2012 年度～ 2014 年度	厚生労働省	研究代表者
科研費　新学術研究（研究領域提案型）	神経変性疾患関連RNA結合タンパクFUSによる転写抑制機構解明	2013 年度～ 2014 年度	文部科学省	研究代表者
科研費　挑戦的研究（萌芽）	神経筋接合部分子LRP4の分子構築解明	2013 年度～ 2013 年度	日本学術振興会	研究代表者
先端研究支援経費	ドラッグリポジショニング戦略により同定をしたWnt抑制薬による変形性関節症治療開発研究	2013 年度～ 2015 年度	名古屋大学	研究代表者
厚生労働科学研究委託業務（難治性疾患等克服研究事業（難治性疾患等実用化研究事業（難治性疾患実用化研究事業））	神経筋接合部・骨格筋の興奮伝達障害の病態解明と治療法開発研究	2014 年度～ 2016 年度	日本医療研究開発機構	研究代表者
科研費　基盤研究(B)(一般)	神経筋接合部の正常分子構築解明と先天性筋無力症候群の分子病態研究	2015 年度～ 2017 年度	日本学術振興会	研究代表者
革新的先端研究開発支援事業（CREST）	パーキンソン病の起因となる腸管α-synuclein異常蓄積に対する腸内細菌叢の関与の解明	2016 年度～ 2021 年度	日本医療研究開発機構	研究代表者
先端研究支援経費	ゾニサミドによる末梢神経・神経筋接合部障害の治療研究	2016 年度～ 2017 年度	名古屋大学	研究代表者
厚生労働科学研究委託業務（難治性疾患等克服研究事業（難治性疾患等実用化研究事業（難治性疾患実用化研究事業））	神経筋接合部・骨格筋の興奮伝達障害に対する新規治療法開発	2017 年度～ 2019 年度	日本医療研究開発機構	研究代表者
第50回医学研究助成	ドラッグリポジショニング戦略によるサルコペニア治療法開発研究	2017 年度～ 2017 年度	公益財団法人三井生命厚生財団	研究代表者
科研費　挑戦的研究（萌芽）	サルコペニアの一次的な原因としての神経筋接合部信号伝達障害の病態機構解明	2019 年度～ 2020 年度	日本学術振興会	研究代表者
科研費　基盤研究(B)(一般)	神経筋接合部の正常分子構築解明と分子病態解明	2020 年度～ 2022 年度	日本学術振興会	研究代表者
第27回磁気研究助成・岡井治特別助成	超低周波変動する超微弱磁場が誘導するマイトファジーによる病態制御	2021 年度～ 2021 年度	公益財団法人渡邉財団	研究代表者
科研費　基盤研究(B)(一般)	神経筋接合部の分子構築・分子病態機構解明	2023 年度～ 2023 年度	日本学術振興会	研究代表者
科研費　挑戦的研究（萌芽）	低周波変動超微弱磁場が誘導するミトコンドリア新生の作用機構解明と病態制御への応用	2023 年度～ 2024 年度	日本学術振興会	研究代表者

主な担当科目と授業の改善と工夫

【担当科目名（対象学部・学科）】
疾病の成り立ちI（生活習慣病）、情報応用演習、データ数理演習、管理栄養士演習入門、管理栄養士演習

【授業の改善と工夫】
管理栄養学教育では、内科医・神経内科医としての実務経験により医療の現場の事例に基づき管理栄養士として必要な知識や対応について理解を深める教育を行っている。データサイエンス教育では活用できる知識と技術の習得に勤めている。両領域において最新の知見を示し最新の知識の涵養に勤めている。

【授業の改善と工夫】

管理栄養学教育では、内科医・神経内科医としての実務経験により医療の現場の事例に基づき管理栄養士として必要な知識や対応について理解を深める教育を行っている。データサイエンス教育では活用できる知識と技術の習得に勤めている。両領域において最新の知見を示し最新の知識の涵養に勤めている。

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