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J-GLOBAL ID：200901022353508239 Update date: Feb. 12, 2025

Yamakawa Kazuhiro

ヤマカワカズヒロ | Yamakawa Kazuhiro

Affiliation and department：
Job title： Professor
Homepage URL (1)： http://www.med.nagoya-cu.ac.jp/neurogenet/

Research field (3)： Psychiatry , Fetal medicine/Pediatrics , Medical biochemistry

Research keywords (4)： disease responsible genes , intellectual disability , autism , epilepsy

Research theme for competitive and other funds (18)：

2024 - 2026 ナトリウムチャネル異常によるてんかん・神経発達症発症機構の解明
2023 - 2026 ナトリウムチャネル異常によるてんかん・神経発達症発症機構の解明
2020 - 2023 SCN2A neurodevelopmental disorders and environments
2017 - 2022 Comprehensive analysis of unmyelinated fibers in central nervous system
2013 - 2018 Epilepsy mechanism investigation and therapy development

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Papers (221)：

Yamakawa K., Meisler MH, Isom LL. Chapter 44. Sodium Channelopathies in Human and Animal Models of Epilepsy and Neurodevelopmental Disorders. Jasper's Basic Mechanisms of the Epilepsies. 5th ed. 2024
Siwei Chen, Bassel W. Abou-Khalil, Zaid Afawi, Quratulain Zulfiqar Ali, Elisabetta Amadori, Alison Anderson, Joe Anderson, Danielle M. Andrade, Grazia Annesi, Mutluay Arslan, et al. Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes. Nature Neuroscience. 2024. 27. 10. 1864-1879
Toshimitsu Suzuki, Kripamoy Aguan, Hideaki Mizuno, Takeshi Nakamura, Ikuyo Inoue, Katsuhiko Mikoshiba, Atsushi Miyawaki, Kazuhiro Yamakawa. Epilepsy protein myoclonin1 interacts with inositol 1,4,5-trisphosphate (IP3) receptor and reduces Ca2+ store in endoplasmic reticulum. 2024
Haruko Miyazaki, Saki Nishioka, Tomoyuki Yamanaka, Manabu Abe, Yukio Imamura, Tomohiro Miyasaka, Nobuto Kakuda, Toshitaka Oohashi, Tomomi Shimogori, Kazuhiro Yamakawa, et al. Generation and characterization of cerebellar granule neurons specific knockout mice of Golli-MBP. Transgenic research. 2024. 33. 3. 99-117
Hideo Hagihara, Hirotaka Shoji, Satoko Hattori, Giovanni Sala, Yoshihiro Takamiya, Mika Tanaka, Masafumi Ihara, Mihiro Shibutani, Izuho Hatada, Kei Hori, et al. Large-scale animal model study uncovers altered brain pH and lactate levels as a transdiagnostic endophenotype of neuropsychiatric disorders involving cognitive impairment. eLife. 2024. 12

MISC (129)：

川崎真菜, 斉藤美知子, 山川和弘, 河下映里, 秋葉聡, 石原慶一. Roles of Vps26c on copper accumulation in the adult brain of a Down syndrome model mouse. 日本薬学会年会要旨集(Web). 2024. 144th
川上陽菜, 千代華歩, 河下映里, 山川和弘, 秋葉聡, 石原慶一. Is brain copper accumulation involved in cognitive dysfunction of Down syndrome model mice models?. 日本薬学会年会要旨集(Web). 2024. 144th
巽友理奈, 斉藤美知子, 高田修治, 河下映里, 山川和弘, 秋葉聡, 石原慶一. Identification of the genetic loci responsible for copper accumulation in the brain of Down syndrome model mouse using mouse models carrying deletions on the trisomic region. 日本薬学会年会要旨集(Web). 2024. 144th
千代華歩, 河下映里, 秋葉聡, 山川和弘, 石原慶一. Correlation between brain copper accumulation and emotional memory impairment in mouse models of Down syndrome. 日本薬学会年会要旨集(Web). 2023. 143rd
神保里菜, 高田修治, 斉藤美知子, 山川和弘, 河下映里, 左合治彦, 秋葉聡, 石原慶一. Narrowing down the genetic loci responsible for copper accumulation in the Down syndrome brain. 日本薬学会年会要旨集(Web). 2023. 143rd

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