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Identification of a novel causative gene for hereditary spastic paraplegia and elucidation of its mechanisms

Description: 遺伝性痙性対麻痺(以下HSP)は厚生労働省の特定疾病に指定されており、現在治療法のない難病の一つである。HSPの治療法の開発には病態解明が不可欠であり、その基礎にある原因遺伝子を同定し、病態機序を解明することが重要である。本研究では細胞内動態のキーとなる膜の動態に関与する遺伝子群に注目し、機能障害による運動神経への影響から新規の治療ターゲットとなる遺伝子変異を抽出する。
Amount: ¥4,290,000
Funding type: fellowship
Funder scheme: Grant-in-Aid for Early-Career Scientists
Start date: 2019-04-01
End date: 2023-03-31
Investigator: Kishin Koh
Institution: University of Yamanashi
Funded outputs count: 19
Funder award ID: 19K16910
OpenAlex ID: G4718684526
A heterozygous GRID2 mutation in autosomal dominant cerebellar ataxia
2022 · Kishin Koh, Haruo Shimazaki, et al. · Human Genome Variation · 8
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Novel heterozygous variants of SLC12A6 in Japanese families with Charcot–Marie–Tooth disease
2022 · Masahiro Ando, Yujiro Higuchi, et al. · Annals of Clinical and Translational Neurology · 7
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A clinical and genetic study of SPG31 in Japan
2022 · Takanori Hata, Haitian Nan, et al. · Journal of Human Genetics · 2
Chédiak–Higashi syndrome presenting as a hereditary spastic paraplegia
2021 · Kishin Koh, Mai Tsuchiya, et al. · Journal of Human Genetics · 7
Erratum to: Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia
2021 · Manuela Wiessner, Reza Maroofian, et al. · Brain · 2
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SPG9A with the new occurrence of an ALDH18A1 mutation in a CMT1A family with PMP22 duplication: case report
2021 · Kishin Koh, Ryusuke Takaki, et al. · BMC Neurology · 2
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Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia
2021 · Manuela Wiessner, Reza Maroofian, et al. · Brain · 52
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A Nepalese family with an REEP2 mutation: clinical and genetic study
2021 · Haitian Nan, Ryusuke Takaki, et al. · Journal of Human Genetics · 2
Identification of a novel mutation in ATP13A2 associated with a complicated form of hereditary spastic paraplegia
2020 · Yasuko Odake, Kishin Koh, et al. · Neurology Genetics · 17
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Spastic Paraplegia with Paget's Disease of Bone due to a VCP Gene Mutation
2020 · Takumi Nakamura, Takeshi Kawarabayashi, et al. · Internal Medicine · 6
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A Japanese SPG4 Patient with a Confirmed De Novo Mutation of the SPAST Gene
2020 · Haitian Nan, Kensho Okamoto, et al. · Internal Medicine · 1
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A novel mutation in the GBA2 gene in a Japanese patient with SPG46: A case report
2020 · Keiko Nakamura-Shindo, Kenjiro Ono, et al. · eNeurologicalSci · 8
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VPS13D‐related disorders presenting as a pure and complicated form of hereditary spastic paraplegia
2019 · Kishin Koh, Hiroyuki Ishiura, et al. · Molecular Genetics & Genomic Medicine · 43
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Conjugal cerebellar type of multiple system atrophy: Person-to-person transmission?
2019 · Haitian Nan, Takahiro Natori, et al. · Parkinsonism & Related Disorders · 6
UBAP1 mutations cause juvenile-onset hereditary spastic paraplegias (SPG80) and impair UBAP1 targeting to endosomes
2019 · Haitian Nan, Yuta Ichinose, et al. · Journal of Human Genetics · 22
Clinical and Genetic Study of the First Japanese FTDP-17 Patient with a Mutation of +3 in Intron 10 in the MAPT Gene
2019 · Haitian Nan, Ryusuke Takaki, et al. · Internal Medicine · 3
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A Japanese family with a novel nonsense mutation in the spastin gene associated with both cerebellar ataxia and cognitive impairment
2018 · Mai Tsuchiya, Kishin Koh, et al. · Journal of the Neurological Sciences · 1
Exome Sequencing Reveals a Novel Homozygous Frameshift Mutation in the CYP7B1 Gene in a Japanese Patient with SPG5
2018 · Haitian Nan, Keisuke Shimozono, et al. · Internal Medicine · 2
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A clinical and genetic study of SPG31 in Japan
· 羽田, 貴礼 · Institutional Repositories DataBase (IRDB)
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