Hiroyuki Ishiura 研究室

主宰者：Hiroyuki Ishiura

東京大学・University of Tokyo Hospital

AI 要約（直近 5 年の研究成果）

本研究室では、神経変性疾患や遺伝性神経筋疾患の原因遺伝子の特定と疾患メカニズムの解明に取り組んでいます。筋萎縮性側索硬化症（ALS）、脊髄小脳変性症、白質脳症など、多様な神経疾患を対象とし、患者から採取した検体を用いた全ゲノム解析や全エクソーム解析によって、病気に関わる遺伝子変異を同定しています。特にALSに関しては、発症年齢に影響する遺伝子座の探索や、タンパク品質管理に関わる新規責任遺伝子の発見を報告しており、疾患の個人差を説明する遺伝学的要因の理解を進めています。同定した遺伝子変異については、構造予測解析や機能実験を実施し、どのようにしてタンパク質の異常につながり、神経細胞の障害をもたらすのかを検討しています。例えば、タンパク質の立体構造の変化、イオン結合能の低下、スプライシング異常などが、具体的な病態メカニズムとして明らかにされています。こうした病因の理解は、その後の診断法の改善や治療法開発の基盤となります。さらに研究室では、新規遺伝性疾患の発見や臨床診断ガイドラインの策定にも貢献しており、遺伝子検査の精度向上や、症状前診断における倫理的課題への対応についても検討しています。これらの研究を通じて、遺伝学的知見を臨床実践に還元し、患者の診断・治療に直結する成果を生み出すことを目指しています。

※ AI（Claude）が、公開されている論文要旨から研究の問い・手法・主要な発見を事実情報として抽出・再構成して自動生成しています。誤りを含む可能性があるため、正確性は研究室公式情報でご確認ください。

外部リンク

研究成果（100 件）

[2025] A Case of Retinopathy–Sensory Neuropathy Syndrome With a Novel Compound Heterozygous <scp> FLVCR1 </scp> Variant
DOI: https://doi.org/10.1111/jns.70082
[2025] Biallelic variants in DNAJC7 cause familial amyotrophic lateral sclerosis with the TDP-43 pathology
DOI: https://doi.org/10.1007/s00401-025-02899-y
[2025] Subacute Progression of Gait Disturbance and Consciousness Impairment Due to Communicating Hydrocephalus Associated With Vestibular Schwannoma
DOI: https://doi.org/10.7759/cureus.89880
[2025] Two Cases of Autosomal Recessive Spinocerebellar Ataxia-8 Showing Two Novel Variants of SYNE1 in Japanese Families
DOI: https://doi.org/10.2169/internalmedicine.5602-25
[2025] Spearmint extract Neumentix downregulates amyloid-β accumulation by promoting phagocytosis in APP23 mice
DOI: https://doi.org/10.1016/j.brainres.2025.149752
[2025] Identification of New Repeat Expansion Diseases
DOI: https://doi.org/10.1111/ncn3.70022
[2025] Authors' Response to "If Status Epilepticus Disappears with Tocilizumab, Paucisymptomatic SARS-CoV-2 Infection Should Be Suspected"
DOI: https://doi.org/10.2169/internalmedicine.5371-25
[2025] Clinical, neuroimaging and genetic findings in the Japanese case series of CLCN2-related leukoencephalopathy
DOI: https://doi.org/10.1016/j.jns.2025.123486
[2025] Favorable outcomes of epilepsy with gait-induced seizures after resection of the unilateral supplementary motor area
DOI: https://doi.org/10.1016/j.cnp.2025.10.004
[2025] Clinical and Genetic Analyses of SPG7 in Japanese Patients with Undiagnosed Ataxia
DOI: https://doi.org/10.2169/internalmedicine.4767-24

続きを表示（残り 90 件）

[2025] The potential mechanism maintaining transactive response DNA binding protein 43 kDa in the mouse stroke model
DOI: https://doi.org/10.1016/j.neures.2025.01.006
[2025] Long‐Term Follow‐Up of a Patient With <scp>SPG11</scp>
DOI: https://doi.org/10.1111/ncn3.12874
[2025] Guidelines for presymptomatic genetic testing for adult-onset hereditary neuromuscular diseases in Japan
DOI: https://doi.org/10.5692/clinicalneurol.cn-002049
[2025] Efficient variant phasing utilizing a replication cycle reaction system
DOI: https://doi.org/10.1016/j.gimo.2025.103457
[2025] First Identification of CGG-Repeat Expansions in LRP12 in Korean Families With Oculopharyngodistal Myopathy Type 1
DOI: https://doi.org/10.3988/jcn.2025.0255
[2025] Biallelic CAG repeat expansion in the ATXN2 gene presenting with parkinsonism and spasticity
DOI: https://doi.org/10.1016/j.parkreldis.2025.108168
[2025] Asthma-like bronchodilator responsiveness in patients with neuronal intranuclear inclusion disease
DOI: https://doi.org/10.1038/s41598-026-46319-x
[2025] Response to “Comment on: A Case of Acute‐Onset <scp>CIDP</scp> With Pleocytosis in Cerebrospinal Fluid Presenting With Recurrent Acute Limb Weakness”
DOI: https://doi.org/10.1002/ncn3.70067
[2025] A genome-wide association study identifies the GPM6A locus associated with age at onset in ALS
DOI: https://doi.org/10.1038/s42003-025-09168-4
[2025] Novel in-frame duplication variant of SOD1 in a Japanese family with familial amyotrophic lateral sclerosis
DOI: https://doi.org/10.1080/21678421.2025.2593302
[2025] Vanishing White Matter Disease With EIF2B2 c.254T >A Variant
DOI: https://doi.org/10.1212/nxg.0000000000200293
[2025] Dorsolateral Cervical Cord <scp>T2</scp> Hyperintensity in <scp> KIF1C </scp> ‐Related Disease (Spastic Paraplegia 58): Two Long‐Duration Cases
DOI: https://doi.org/10.1002/acn3.70248
[2025] Vanishing White Matter Disease With EIF2B2 c.254T>A Variant
DOI: https://doi.org/10.1212/nxg.0000000000200324
[2025] Two Japanese families with adult-onset leukoencephalopathy caused by pathogenic variants in CST3
DOI: https://doi.org/10.1016/j.jns.2025.123708
[2025] INF2 ‐Related Charcot–Marie–Tooth Disease in a Japanese Cohort: Genetic and Clinical Insights
DOI: https://doi.org/10.1002/acn3.70205
[2025] Impact of endogenous vasohibin 1 and vasohibin 2 gene expression on ferroptosis in a mouse cerebral infarction model
DOI: https://doi.org/10.1016/j.neuroscience.2025.08.061
[2025] A Case of Acute‐Onset <scp>CIDP</scp> With Pleocytosis in Cerebrospinal Fluid Presenting With Recurrent Acute Limb Weakness
DOI: https://doi.org/10.1111/ncn3.70045
[2025] In-frame deletion variant of ABCD1 in a sporadic case of adrenoleukodystrophy
DOI: https://doi.org/10.1038/s41439-025-00309-z
[2024] Neuroprotective effect of, a flavonoid, sudachitin in mice stroke model
DOI: https://doi.org/10.1016/j.brainres.2023.148745
[2024] A novel de novo disease‐causing variant in ATL1 in a pediatric patient with spastic paraplegia
DOI: https://doi.org/10.1111/ncn3.12860
[2024] A Novel De Novo Variant in KCNH5 in a Patient with Refractory Epileptic Encephalopathy
DOI: https://doi.org/10.2169/internalmedicine.3999-24
[2024] Subacute Upper Motor Neuron Dysfunction Possibly Associated with the Anti-GM1 Autoantibody
DOI: https://doi.org/10.2169/internalmedicine.4667-24
[2024] Wilson's Disease Preceded by Schizophrenia-like Symptoms with Frontal-dominant Leukoencephalopathy
DOI: https://doi.org/10.2169/internalmedicine.4353-24
[2024] Genetic and functional analyses of SPTLC1 in juvenile amyotrophic lateral sclerosis
DOI: https://doi.org/10.1007/s00415-024-12776-5
[2024] Association study of GBA1 variants with MSA based on comprehensive sequence analysis -Pitfalls in short-read sequence analysis depending on the human reference genome-
DOI: https://doi.org/10.1038/s10038-024-01266-1
[2024] A novel TBK1 loss-of-function variant associated with ALS and parkinsonism phenotypes
DOI: https://doi.org/10.1080/21678421.2024.2374374
[2024] Hyperdense Vessel Sign in Brain Computed Tomography as an Early Indication of Reversible Cerebral Vasoconstriction Syndrome
DOI: https://doi.org/10.2169/internalmedicine.4350-24
[2024] Protective effect of scallop-derived plasmalogen against vascular dysfunction, via the pSTAT3/PIM1/NFATc1 axis, in a novel mouse model of Alzheimer’s disease with cerebral hypoperfusion
DOI: https://doi.org/10.1016/j.brainres.2024.148790
[2024] Treatment of Cryptogenic New-onset Refractory Status Epilepticus (C-NORSE) with Tocilizumab
DOI: https://doi.org/10.2169/internalmedicine.3392-23
[2024] The Japan <scp>MSA</scp> registry: A multicenter cohort study of multiple system atrophy
DOI: https://doi.org/10.1111/ncn3.12809
[2024] <scp>SPTLC2</scp> variants are associated with early‐onset <scp>ALS</scp> and <scp>FTD</scp> due to aberrant sphingolipid synthesis
DOI: https://doi.org/10.1002/acn3.52013
[2024] A Japanese Family with a Novel Pathogenic Variant in KIF1A Presenting with Spastic Paraparesis, Cerebellar Ataxia, and Intellectual Disability
DOI: https://doi.org/10.1007/s12311-024-01782-y
[2023] Proteomic profile of nuclei containing p62-positive inclusions in a patient with neuronal intranuclear inclusion disease
DOI: https://doi.org/10.1016/j.nbd.2023.105989
[2023] Intraventricular Cerliponase Alfa Treatment in a Patient with Advanced Neuronal Ceroid Lipofuscinosis Type 2
DOI: https://doi.org/10.2169/internalmedicine.2563-23
[2023] Recovery after Prolonged Disturbance of Consciousness and Repeated Cerebral Perfusion Changes in Neuronal Intranuclear Inclusion Disease
DOI: https://doi.org/10.2169/internalmedicine.1015-22
[2023] CGG repeat expansion in LOC642361/NUTM2B-AS1 typically presents as oculopharyngodistal myopathy
DOI: https://doi.org/10.1016/j.jgg.2023.12.009
[2023] Protective Effects of Rivaroxaban on White Matter Integrity and Remyelination in a Mouse Model of Alzheimer’s Disease Combined with Cerebral Hypoperfusion
DOI: https://doi.org/10.3233/jad-230413
[2023] RETRACTED: Injection of exogenous amyloid-β oligomers aggravated cognitive deficits, and activated necroptosis, in APP23 transgenic mice
DOI: https://doi.org/10.1016/j.brainres.2023.148565
[2023] Late-onset Myoclonic Seizure in a 78-year-old Woman with Gaucher Disease
DOI: https://doi.org/10.2169/internalmedicine.1699-23
[2023] Adrenomyeloneuropathy with Later Development of Cerebral Form Caused by a Hemizygous Splice-site Variant in ABCD1
DOI: https://doi.org/10.2169/internalmedicine.2240-23
[2023] Identification of noncoding repeat expansion disorders and the repeat motif–phenotype correlation
DOI: https://doi.org/10.4044/joma.135.72
[2023] Anti-neurofascin 155 Antibody-positive Neuropathy in a Human Immunodeficiency Virus-infected Patient
DOI: https://doi.org/10.2169/internalmedicine.1919-23
[2023] Nine Hereditary Movement Disorders First Described in Asia: Their History and Evolution
DOI: https://doi.org/10.14802/jmd.23065
[2023] The Myocardial Accumulation of Aggregated Desmin Protein in a Case of Desminopathy with a de novo DES p.R406W Mutation
DOI: https://doi.org/10.2169/internalmedicine.0992-22
[2023] Neurofilament light chain levels in cerebrospinal fluid as a sensitive biomarker for cerebral adrenoleukodystrophy
DOI: https://doi.org/10.1002/acn3.51818
[2023] Clinical features of a family with late‐onset distal hereditary motor neuropathy harboring p.<scp>Pro39Leu</scp> variant of HSPB1
DOI: https://doi.org/10.1111/jns.12567
[2023] Noncanonical splice‐site variant in peripheral myelin protein 22 gene (<scp>PMP22</scp>) in a patient with hereditary neuropathy with liability to pressure palsies
DOI: https://doi.org/10.1111/jns.12558
[2023] Favorable outcome of hematopoietic stem cell transplantation in late-onset Krabbe disease
DOI: https://doi.org/10.1016/j.braindev.2023.04.001
[2023] High-dose ubiquinol supplementation in multiple-system atrophy: a multicentre, randomised, double-blinded, placebo-controlled phase 2 trial
DOI: https://doi.org/10.1016/j.eclinm.2023.101920
[2023] A novel homozygous nonsense variant of LMF1 in pregnancy-induced hypertriglyceridemia with acute pancreatitis
DOI: https://doi.org/10.1016/j.jacl.2023.03.005
[2023] A case of intravascular lymphoma presenting with a lesion in the splenium of the corpus callosum
DOI: https://doi.org/10.1016/j.radcr.2023.02.025
[2023] Clinical diagnostic criteria of benign adult familial myoclonus epilepsy type 1 are highly concordant with genetic testing
DOI: https://doi.org/10.1111/ncn3.12696
[2023] Insights into familial adult myoclonus epilepsy pathogenesis: How the same repeat expansion in six unrelated genes may lead to cortical excitability
DOI: https://doi.org/10.1111/epi.17504
[2022] CSF P-Tau181 and Other Biomarkers in Patients With Neuronal Intranuclear Inclusion Disease
DOI: https://doi.org/10.1212/wnl.0000000000201647
[2022] The clinical and molecular spectrum of ZFYVE26-associated 1 hereditary spastic paraplegia: SPG15
DOI: https://doi.org/10.5281/zenodo.7429273
[2022] Recent advances in benign adult familial myoclonus epilepsy
DOI: https://doi.org/10.1111/ncn3.12685
[2022] Valosin-containing protein Asp395Gly mutation in a patient with frontotemporal dementia: a case report
DOI: https://doi.org/10.1186/s12883-022-02951-4
[2022] The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15
DOI: https://doi.org/10.1093/brain/awac391
[2022] A Novel de novo KIF1A Mutation in a Patient with Ataxia, Intellectual Disability and Mild Foot Deformity
DOI: https://doi.org/10.1007/s12311-022-01489-y
[2022] APOE Alleles With Tau and Aβ Pathology in Patients With Amyotrophic Lateral Sclerosis and Parkinsonism-Dementia Complex in the Kii Peninsula
DOI: https://doi.org/10.1212/wnl.0000000000201156
[2022] Clinical and Genetic Features of Multiplex Families with Multiple System Atrophy and Parkinson’s Disease
DOI: https://doi.org/10.1007/s12311-022-01426-z
[2022] Expanded clinical spectrum of oculopharyngodistal myopathy type 1
DOI: https://doi.org/10.1002/mus.27717
[2022] Copper Deficiency in Wilson's Disease with a Normal Zinc Value
DOI: https://doi.org/10.2169/internalmedicine.9366-22
[2022] Multi-type RFC1 repeat expansions as the most common cause of hereditary sensory and autonomic neuropathy
DOI: https://doi.org/10.3389/fneur.2022.986504
[2022] Somatic GJA4 gain-of-function mutation in orbital cavernous venous malformations
DOI: https://doi.org/10.1007/s10456-022-09846-5
[2022] Comprehensive Genetic Analyses of Inherited Peripheral Neuropathies in Japan: Making Early Diagnosis Possible
DOI: https://doi.org/10.3390/biomedicines10071546
[2022] Asymptomatic myocardial infarction in a patient with myotonic dystrophy type 1
DOI: https://doi.org/10.1016/j.jccase.2022.05.004
[2022] Nonsyndromic arteriopathy and aortopathy and vascular Ehlers–Danlos syndrome <scp>causing COL3A1</scp> variants
DOI: https://doi.org/10.1002/ajmg.a.62774
[2022] Expression profile analysis in cells overexpressing <scp>DRPLA cDNA</scp> to explore the roles of <scp>DRPLAp</scp> as a transcriptional coregulator
DOI: https://doi.org/10.1111/ncn3.12607
[2022] Novel de novo <scp>POLR3B</scp> mutations responsible for demyelinating Charcot–Marie–Tooth disease in Japan
DOI: https://doi.org/10.1002/acn3.51555
[2022] Complex hereditary peripheral neuropathies caused by novel variants in mitochondrial-related nuclear genes
DOI: https://doi.org/10.1007/s00415-022-11026-w
[2022] A clinical and genetic study of SPG31 in Japan
DOI: https://doi.org/10.1038/s10038-022-01021-4
[2022] Family with congenital contractural arachnodactyly due to a novel multiexon deletion of the FBN2 gene
DOI: https://doi.org/10.1002/ccr3.5335
[2022] An NEFH founder mutation causes broad phenotypic spectrum in multiple Japanese families
DOI: https://doi.org/10.1038/s10038-022-01019-y
[2022] Muscle Transcriptomics Shows Overexpression of Cadherin 1 in Inclusion Body Myositis
DOI: https://doi.org/10.1002/ana.26304
[2022] Elderly patients with suspected Charcot-Marie-Tooth disease should be tested for the TTR gene for effective treatments
DOI: https://doi.org/10.1038/s10038-021-01005-w
[2022] High-Dose Ubiquinol Supplementation in Multiple-System Atrophy: A Multicentre, Randomised, Double-Blinded, Placebo-Controlled Phase 2 Trial
DOI: https://doi.org/10.2139/ssrn.4117370
[2022] Recommendations (Proposal) for promoting research for overcoming neurological diseases 2020
DOI: https://doi.org/10.5692/clinicalneurol.cn-001695
[2022] Recommendations (Proposal) for promoting research for overcoming neurological diseases 2020
DOI: https://doi.org/10.5692/clinicalneurol.cn-001696
[2021] DMD exon 2 duplication due to a complex genomic rearrangement is associated with a somatic mosaicism
DOI: https://doi.org/10.1016/j.nmd.2021.12.004
[2021] Randomized, double‐blind, placebo‐controlled phase 1 study to evaluate the safety and pharmacokinetics of high doses of ubiquinol in healthy adults
DOI: https://doi.org/10.1111/ncn3.12566
[2021] Frequency of FMR1 Premutation Alleles in Patients with Undiagnosed Cerebellar Ataxia and Multiple System Atrophy in the Japanese Population
DOI: https://doi.org/10.1007/s12311-021-01329-5
[2021] Diagnostic Values of Venous Peak Lactate, Lactate-to-pyruvate Ratio, and Fold Increase in Lactate from Baseline in Aerobic Exercise Tests in Patients with Mitochondrial Diseases
DOI: https://doi.org/10.2169/internalmedicine.8629-21
[2021] Abstract 13685: Combined Genetic Defects of Sitosterolemia and Familial Hypercholesterolemia
DOI: https://doi.org/10.1161/circ.144.suppl_1.13685
[2021] An immigrant family with Kii amyotrophic lateral sclerosis/parkinsonism–dementia complex
DOI: https://doi.org/10.1007/s10072-021-05737-7
[2021] Severe dilated cardiomyopathy and ventricular arrhythmia in a patient with Emery‐Dreifuss muscular dystrophy harboring a novel frameshift mutation in EMD
DOI: https://doi.org/10.1111/ncn3.12552
[2021] Chédiak–Higashi syndrome presenting as a hereditary spastic paraplegia
DOI: https://doi.org/10.1038/s10038-021-00977-z
[2021] Cranial Nerve Involvement and Dysautonomia in Post-COVID-19 Guillain-Barré Syndrome
DOI: https://doi.org/10.2169/internalmedicine.7355-21
[2021] Randomized phase 2 study of perampanel for sporadic amyotrophic lateral sclerosis
DOI: https://doi.org/10.1007/s00415-021-10670-y
[2021] A Case of Irreversible Corneal Edema Associated with Dentatorubropallidoluysian Atrophy Following Corneal Endothelial Transplantation
DOI: https://doi.org/10.1007/s42399-021-00962-9

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AI 要約（直近 5 年の研究成果）

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研究成果（100 件）

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