分子診断・治療医学

　ショウジョウバエモデルを用いた神経変性疾患、神経発達症の新規治療探索（京都工芸繊維大学との共同研究）
 

1. Matsuoka T, Yoshida H, Kasai T, Tozawa T, Iehara T, Chiyonobu T. a-Synuclein pathology in Drosophila melanogaster is exacerbated by haploinsufficiency of Rop:Connecting STXBP1 encephalopathy with a-synucleinopathies. Hum Mol Genet, in press.

2. Takada R, Tozawa T, Yamanaka T, Moroto M, Iehara T, Chiyonobu T. Bilateral choroid plexus resection in a 9p hexasomy/tetrasomy mosaic patient. Hum Genome Var 11: 9,2024.

3. Yamaguchi M, Huynh MA, Chiyonobu T, Yoshida H. Knockdown of Chronophage in the nervous system mimics features of neurodevelopmental disorders caused by BCL11A/B variants. Exp Cell Res 433: 113827, 2023.

4. Taura Y, Tozawa T, Isoda K, Hirai S, Chiyonobu T, Yano N, Hayashi T, Yoshida T,Iehara T. Leigh-like syndrome with progressive cerebellar atrophy caused by novel HIBCH variants. Hum Genome Var 10: 23, 2023.

5. Taura Y, Tozawa T, Fujimoto T, Ichise E, Chiyonobu T, Itoh K, Iehara T. Myosin Va, a novel interaction partner of STXBP1, is required to transport syntaxin1A to the plasma membrane. Neuroscience 524: 256-268, 2023.

6. Mori J, Hasegawa T, Miyamoto Y, Kitamura K, Morimoto H, Tozawa T, Pooh RK,Chiyonobu T. Thyroid hypogenesis is associated with a novel AKT3 germline variant that causes megalencephaly and cortical malformation. Hum Genome Var 9: 18, 2022.

7. Tomida A, Chiyonobu T, Tokuda S, Miyachi M, Murashima K, Hirata M, Nakagawa M,Iehara T, Kuroda J, Takayama K. Pleomorphic rhabdomyosarcoma in a young adult harboring a novel germline MSH2 variant. Hum Genome Var 9: 8, 2022.

8. Mori J, Umemura A, Satake W, Cha PC, Suzuki Y, Itoh K, Chiyonobu T. TUBB E410K syndrome with childhood-onset nonalcoholic steatohepatitis. J Clin Endocrinol Metab 107: e38-e43, 2022.

9. Ichise E, Chiyonobu T, Ishikawa M, Tanaka Y, Shibata M, Tozawa T, Taura Y, Yamashita S, Yoshida M, Morimoto M, Higurashi N, Yamamoto T, Okano H, Hirose S. Impaired neuronal activity and differential gene expression in STXBP1 encephalopathy patient iPSC-derived GABAergic neurons. Hum Mol Genet 30: 1337-1348, 2021.