Hideshi Kawakami
Last Updated :2021/01/05
- Affiliations, Positions
- Research Institute for Radiation Biology and Medicine, Professor
- E-mail
- hkawakam
hiroshima-u.ac.jp
Basic Information
Academic Degrees
- Doctor of Philosophy in Medical Science, Kyoto University
Research Fields
- Medicine,dentistry, and pharmacy;Clinical internal medicine;Neurology
Research Keywords
- neurodegerative disease
- SCA
- optineurin
- geneticfactor
- triplet repeats
- ALS
Educational Activity
Course in Charge
- 2020, Undergraduate Education, First Semester, Human genetics
- 2020, Undergraduate Education, Intensive, Practice for medical research
- 2020, Graduate Education (Doctoral Program) , First Semester, Advanced seminar on Epidemiology
- 2020, Graduate Education (Doctoral Program) , Second Semester, Advanced seminar on Epidemiology
- 2020, Graduate Education (Doctoral Program) , First Semester, Advanced research on Epidemiology
- 2020, Graduate Education (Doctoral Program) , Second Semester, Advanced research on Epidemiology
- 2020, Graduate Education (Master's Program) , First Semester, Seminar
- 2020, Graduate Education (Master's Program) , Second Semester, Seminar
- 2020, Graduate Education (Master's Program) , First Semester, Research
- 2020, Graduate Education (Master's Program) , Second Semester, Research
- 2020, Graduate Education (Doctoral Program) , First Semester, Advanced Seminar
- 2020, Graduate Education (Doctoral Program) , Second Semester, Advanced Seminar
- 2020, Graduate Education (Doctoral Program) , First Semester, Advanced Research
- 2020, Graduate Education (Doctoral Program) , Second Semester, Advanced Research
- 2020, Graduate Education (Doctoral Program) , First Semester, Advanced Seminar on Epidemiology
- 2020, Graduate Education (Doctoral Program) , Second Semester, Advanced Seminar on Epidemiology
- 2020, Graduate Education (Doctoral Program) , First Semester, Advanced Research on Epidemiology
- 2020, Graduate Education (Doctoral Program) , Second Semester, Advanced Research on Epidemiology
- 2020, Graduate Education (Doctoral Program) , 2Term, Trends of Genome Editing in Medical Science
Research Activities
Academic Papers
- Co-morbidity of progressive supranuclear palsy and amyotrophic lateral sclerosis: a clinical-pathological case report., BMC Neurology, 19(1), 168, 2019 Jul 18
- Treatment of intractable resting tremor of spinocerebellar ataxia 42 with zonisamide., Journal of Neurological Science, 396(1), 119-120, 2019 Jan 15
- Using global team science to identify genetic parkinson's disease worldwide, Annals of neurology, 86(2), 153-157, 2019, Aug,1
- Genetic screening for potassium channel mutations in Japanese autosomal dominant spinocerebellar ataxia, JOURNAL OF HUMAN GENETICS, 65(4), 363-369, 202004
- Middle-age-onset cerebellar ataxia caused by a homozygous TWNK variant: a case report, BMC MEDICAL GENETICS, 21(1), 20200331
- Optineurin regulates osteoblastogenesis through STAT1, BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 525(4), 889-894, 20200514
- Biallelic mutation of HSD17B4 induces middle age-onset spinocerebellar ataxia, NEUROLOGY-GENETICS, 6(1), 202002
- Amyotrophic lateral sclerosis of long clinical course clinically presenting with progressive muscular atrophy, NEUROPATHOLOGY, 39(1), 47-53, 201902
- Mitochondrial DNA haplogroups and age at onset of Machado-Joseph disease/spinocerebellar ataxia type 3: a study in patients from multiple populations, EUROPEAN JOURNAL OF NEUROLOGY, 26(3), 506-512, 201903
- Characteristics of 5015 Salivary Gland Neoplasms Registered in the Hiroshima Tumor Tissue Registry over a Period of 39 Years, JOURNAL OF CLINICAL MEDICINE, 8(5), 201905
- Novel compound heterozygous mutations in the PARK2 gene identified in a Chinese pedigree with early-onset Parkinson's disease, BRAIN AND BEHAVIOR, 8(1), 201801
- Multiple Proteinopathies in Familial ALS Cases With Optineurin Mutations, JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY, 77(2), 128-138, 201802
- RELATIVE BIOLOGICAL EFFECTIVENESS OF NEUTRONS DERIVED FROM THE EXCESS RELATIVE RISK MODEL WITH THE ATOMIC BOMB SURVIVORS DATA MANAGED BY HIROSHIMA UNIVERSITY, RADIATION PROTECTION DOSIMETRY, 180(1-4), 346-350, 201808
- Second derivative of the finger photoplethysmogram and cardiovascular mortality in middle-aged and elderly Japanese women, HYPERTENSION RESEARCH, 40(2), 207-211, 201702
- First report of a Japanese family with spinocerebellar ataxia type 10: The second report from Asia after a report from China, PLOS ONE, 12(5), 20170519
- PLK1-mediated phosphorylation of WDR62/MCPH2 ensures proper mitotic spindle orientation, HUMAN MOLECULAR GENETICS, 26(22), 4429-4440, 20171115
- Linear ubiquitination is involved in the pathogenesis of optineurin-associated amyotrophic lateral sclerosis, NATURE COMMUNICATIONS, 7, 201608
- Vulnerability of Purkinje Cells Generated from Spinocerebellar Ataxia Type 6 Patient-Derived iPSCs, CELL REPORTS, 17(6), 1482-1490, 20161101
- Self-Organization of Polarized Cerebellar Tissue in 3D Culture of Human Pluripotent Stem Cells, CELL REPORTS, 10(4), 537-550, 20150203
- A mutation in the low voltage-gated calcium channel CACNA1G alters the physiological properties of the channel, causing spinocerebellar ataxia, MOLECULAR BRAIN, 8, 20151229
- Neurogenetics: The expanding horizons of diagnosis and disease pathogenesis., Neurology, 84(11), 1070-1071, 20150317
- Multicenter Study of Intravenous Recombinant Tissue Plasminogen Activator Infusion around Hiroshima, Japan: The Hiroshima Acute Stroke Retrospective and Prospective Registry Study., J Stroke Cerebrovasc Dis., 24(12), 2747-2753, 201512
- Exome sequencing reveals a novel TTC19 mutation in an autosomal recessive spinocerebellar ataxia patient, BMC NEUROLOGY, 14, 20140107
- An autopsy case of sporadic amyotrophic lateral sclerosis associated with the I113T SOD1 mutation, NEUROPATHOLOGY, 34(1), 58-63, 201402
- Clinicopathologic features of autosomal recessive amyotrophic lateral sclerosis associated with optineurin mutation, NEUROPATHOLOGY, 34(1), 64-70, 201402
- Exome sequencing reveals a novel MRE11 mutation in a patient with progressive myoclonic ataxia, JOURNAL OF THE NEUROLOGICAL SCIENCES, 337(1-2), 219-223, 20140215
- Neuropathological features of Japanese familial amyotrophic lateral sclerosis with p.N352S mutation in TARDBP., Neuropathology and Applied Neurobiology, 40(2), 231-236, 20140201
- Exome sequencing reveals a novel ANO10 mutation in a Japanese patient with autosomal recessive spinocerebellar ataxia., Clinical Genetics, 85(3), 296-297, 20140301
- DYT6 in Japan - genetic screening and clinical characteristics of the patients., Movement Disorders, 29(2), 278-280, 20140201
- ALS12 (optineurin), 27, 496-499, 20140301
- An autopsy case of familial amyotrophic lateral sclerosis with FUS R521G mutation, AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION, 15(3-4), 305-308, 201406
- Detecting gene mutations in Japanese Alzheimer's patients by semiconductor sequencing, NEUROBIOLOGY OF AGING, 35(7), 201407
- Genome-Wide Association Study in Musician's Dystonia: A Risk Variant at the Arylsulfatase G Locus?, MOVEMENT DISORDERS, 29(7), 921-927, 201406
- A Japanese patient with familial ALS and a p.K510M mutation in the gene for FUS (FUS) resulting in the totally locked-in state, NEUROPATHOLOGY, 34(5), 504-509, 201410
- Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features, NEUROLOGY, 83(22), 2054-2061, 20141125
- Immunoreactivity of valosin-containing protein in sporadic amyotrophic lateral sclerosis and in a case of its novel mutant, ACTA NEUROPATHOLOGICA COMMUNICATIONS, 2, 2014
- Optineurin and amyotrophic lateral sclerosis, GERIATRICS & GERONTOLOGY INTERNATIONAL, 13(3), 528-532, 201307
- Optineurin suppression causes neuronal cell death via NF-kappa B pathway, JOURNAL OF NEUROCHEMISTRY, 126(6), 699-704, 201309
- Cerebellar ataxia with SYNE1 mutation accompanying motor neuron diesease., Neurology, 80(2), 600-601, 20130201
- Convenient diagnosis of spinal and bulbar muscular atrophy using a microchip electrophoresis system, American Journal of Neurodegenerative Disease, 2(1), 35-39, 20130301
- Oromandibular Dystonia associated with SCA36, Movement Disorders, 28(4), 557-559, 20130401
- Investigation on circular asymmetry of geographical distribution in cancer mortality of Hiroshima atomic bomb survivors based on risk maps: analysis of spatial survival data, RADIATION AND ENVIRONMENTAL BIOPHYSICS, 51(2), 133-141, 201205
- The clinical characteristics of spinocerebellar ataxia 36: A study of 2121 Japanese ataxia patients, MOVEMENT DISORDERS, 27(9), 1158-1163, 201208
- Investigation on circular asymmetry of geographical distribution of mortality risk in Hiroshima atomic bomb survivors, IPSHU English Research Report Series, 28, 57-65, 20120401
- Clinicopathologic study on an ALS family with a heterozygous E478G optineurin mutation, ACTA NEUROPATHOLOGICA, 122(2), 223-229, 201108
- Screening for OPTN mutations in amyotrophic lateral sclerosis in a mainly Caucasian population, NEUROBIOLOGY OF AGING, 32(10), 201110
- Optineurin with amyotrophic lateral sclerosis-related mutations abrogates inhibition of interferon regulatory factor-3 activation, NEUROSCIENCE LETTERS, 505(3), 279-281, NOV 21 2011
- Optineurin is co-localized with FUS in basophilic inclusions of ALS with FUS mutation and in basophilic inclusion body disease., Acta Neuropathologica, 121(4), 555-557, 20110401
- The UCHL1 polymorphism and parkinson's disease in a Japanese population, Parkinsonism and Related Disorders, 17, 473-475, 20110701
- Detection of large expansions in SCA8 using a fluorescent repeat-primed PCR assay., Hiroshima Journal of Mediacal Science, 60(3), 63-66, 20110901
- Severe brain atrophy after long-term survival seen in siblings with familial amyotrophic lateral sclerosis and a mutation in the optineurin gene: a case series, Journal of Medical Case Reports, 5(12), 573, 20111201
- The UCHL1 S18Y polymorphism and Parkinson's disease in a Japanese population, PARKINSONISM & RELATED DISORDERS, 17(6), 473-475, 201107
- Homozygosity Mapping on Homozygosity Haplotype Analysis to Detect Recessive Disease-Causing Genes from a Small Number of Unrelated, Outbred Patients, PLOS ONE, 6(9), 20110920
- Mutations of optineurin in amyotrophic lateral sclerosis, NATURE, 465(7295), 223-U109, 20100513
- Autopsy Case of Later-Onset Pontocerebellar Hypoplasia Type 1: Pontine Atrophy and Pyramidal Tract Involvement, JOURNAL OF CHILD NEUROLOGY, 25(11), 1429-1434, NOV 2010
- A quantitatively-modeled homozygosity mapping algorithm, qHomozygosityMapping, utilizing whole genome single nucleotide polymorphism genotyping data, BMC BIOINFORMATICS, 11, 20101015
- LRRK2 Mutations and Risk Variants in Japanese Patients with Parkinson's Disease, MOVEMENT DISORDERS, 24(7), 1034-1041, 20090515
- Genome-wide association study identifies common variants at four loci as genetic risk factors for Parkinson's disease., Nature Genetics, 41(12), 1303-1307, 20091201
- Screening for TARDBP mutations in Japanese familial amyotrophic lateral sclerosis, J Neurol Sci., 15(284), 69-71, 20090501
- LRRK2 mutations and risk variants in Japanese patients with Parkinson's disease., Mov Disord., 24(7), 1034-41, 20090501
- Aortic Pulse Wave Velocity Predicts Cardiovascular Mortality in Middle-Aged and Elderly Japanese Men, CIRCULATION JOURNAL, 73(3), 549-553, 200903
- Screening for TARDBP mutations in Japanese familial amyotrophic lateral sclerosis, JOURNAL OF THE NEUROLOGICAL SCIENCES, 284(1-2), 69-71, 20090915
- The CNTN4 c.4256C>T mutation is rare in Japanese with inherited spinocerebellar ataxia, Journal of the Neurological Sciences, 266, 180-181, 20080201
- Pathogenic expansions of the SCA6 locus are associated with a common CACNA1A haplotype across the globe: founder effect or predisposing chromosome?, European Journal of Human Genetics, 16(7), 841-847, 20080701
- Pathogenic expansions of the SCA6 locus are associated with a common CACNA1A haplotype across the globe: founder effect or predisposing chromosome?, EUROPEAN JOURNAL OF HUMAN GENETICS, 16(7), 841-847, 200807
- A polymorphism of LOC387715 gene is associated with age-related macular degeneration in the Japanese population., Neurosci. Lett., 414(1), 71-74, 20070201
- No association of complement factor H gene polymorphism and age-related macular degeneration in the Japanese population., Retina, 26(9), 985-987, 20060901
- Optineurin with amyotrophic lateral sclerosis-related mutations abrogates inhibition of interferon regulatory factor-3 activation, Neuroscience Letters, 505(3), 279-281, 2011