Rchr
J-GLOBAL ID:201801001730401234
Update date: Oct. 11, 2024 Suzuki Toshimitsu
スズキ トシミツ | Suzuki Toshimitsu
Affiliation and department: Job title:
Lecturer
Homepage URL (1): http://www.med.nagoya-cu.ac.jp/neurogenet/index.html Research field (3):
Neuroscience - general
, Psychiatry
, Genetics
Research keywords (5):
neurodevelopmental disorder
, autism spectrum disorder
, epilepsy
, 疾患責任・関連遺伝子の同定
, 疾患の発症機序の解明
Research theme for competitive and other funds (10): - 2022 - 2025 SCN2A遺伝子変異による社会性行動障害に関わる神経回路の解明
- 2022 - 2023 SCN2A遺伝子欠損による皮質-側坐核神経回路の異常を介した社会性行動障害の解明
- 2019 - 2022 EFHC1およびICK遺伝子変異によるてんかんに共通する発症メカニズムの解明
- 2016 - 2019 EFHC1変異によるてんかん新規発症機序の解明
- 2012 - 2015 Efhc1コンディショナルノックアウトマウスを用いたてんかん発症機序の解明
- 2010 - 2012 EFHC1変異による小胞体カルシウム貯蔵量の調節を介したてんかん発症機序の解明
- 2010 - 2011 てんかん原因遺伝子EFHC1遺伝子がコードするタンパク
- 2008 - 2010 Efhc1遺伝子改変マウスを用いた若年性ミオクロニーてんかん発症機序の解明
- 2006 - 2008 Characterization of EFHC1 and Understand the Pathology of Juvenile Myoclonic Epilepsy (JME)
- 2004 - 2006 若年性ミオクローヌスてんかん新規原因遺伝子の機能解析
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Papers (64): -
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
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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. bioRxiv. 2024
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Toshimitsu Suzuki, Satoko Hattori, Hiroaki Mizukami, Ryuichi Nakajima, Yurina Hibi, Saho Kato, Mahoro Matsuzaki, Ryu Ikebe, Tsuyoshi Miyakawa, Kazuhiro Yamakawa. Inversed Effects of Nav1.2 Deficiency at Medial Prefrontal Cortex and Ventral Tegmental Area for Prepulse Inhibition in Acoustic Startle Response. Molecular Neurobiology. 2023. 61. 2. 622-634
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Remi Stevelink, Ciarán Campbell, Siwei Chen, Bassel Abou-Khalil, Oluyomi M. Adesoji, Zaid Afawi, Elisabetta Amadori, Alison Anderson, Joseph Anderson, Danielle M. Andrade, et al. GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture. Nature Genetics. 2023. 55. 9. 1471-1482
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Ludovica Montanucci, David Lewis-Smith, Ryan L. Collins, Lisa-Marie Niestroj, Shridhar Parthasarathy, Julie Xian, Shiva Ganesan, Marie Macnee, Tobias Brünger, Rhys H. Thomas, et al. Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals. Nature Communications. 2023. 14. 1. 4392
more... MISC (77): -
Suzuki T, Yamakawa K. Identification of responsible genes for temporal lobe epilepsy and investigation of pathological cascade. 2023
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Suzuki T, Yamakawa K. Inversed effects of Nav1.2 deficiency at medial prefrontal cortex and ventral tegmental area for prepulse inhibition in acoustic startle response. Molecular neurobiology. 2023
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Yamakawa K, Yamagata T, Suzuki T. Pathomechanisms of neurodevelopmental disorders caused by sodium channel gene SCN2A mutations. 第65回日本小児神経学会学術集会 (岡山). 2023
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鈴木 俊光. 側頭葉てんかん責任遺伝子の同定と発症メカニズムの解明. 2022
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Yamakawa K, Suzuki T. Elimination of EFHC1 in brain ventricle ependymal cells reproduces epileptic phenotypes of systemic deficient mouse. 第67回 日本人類遺伝学会 (横浜). 2022
more... Patents (2): -
てんかんの診断および治療のための組成物ならびに方法
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てんかんの診断および治療のための組成物ならびに方法
Professional career (1): - Ph.D. (Tokyo Medical and Dental University)
Work history (7): - 2021/03 - 現在 Institute of Brain Sciences, Nagoya City University Graduate School of Medical Sciences Department of Neurodevelopmental Disorder Genetics Lecturer
- 2019/10 - 2021/02 Institute of Brain Sciences, Nagoya City University Graduate School of Medical Sciences Department of Neurodevelopmental Disorder Genetics Assistant Professor
- 2018/04 - 2019/09 RIKEN Center for Brain Science Lab. for Neurogenetics Research Scientist
- 2009/04 - 2018/03 RIKEN Brain Science Institute Lab. for Neurogenetics Research Scientist
- 2006/04 - 2009/03 RIKEN Brain Science Institute Lab. for Neurogenetics Special Postdoctoral Researcher
- 2002/10 - 2006/03 RIKEN Brain Science Institute Lab. for Neurogenetics Research Associate
- 1999/04 - 2002/09 RIKEN Brain Science Institute Lab. for Neurogenetics Technical stuff
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