https://scholars.lib.ntu.edu.tw/handle/123456789/631016
標題: | A novel C19orf12 frameshift mutation in a MPAN pedigree impairs mitochondrial function and connectivity leading to neurodegeneration | 作者: | Chen, Huan-Yun Lin, Han-I Hsu, Chia-Lang PEI-LUNG CHEN Huang, Cheng-Yen SHU-CHUN TENG CHIN-HSIEN LIN |
關鍵字: | PROTEIN; SUBTYPE; PATHWAY; SERVER | 公開日期: | 四月-2023 | 出版社: | ELSEVIER SCI LTD | 卷: | 109 | 起(迄)頁: | 105353 | 來源出版物: | Parkinsonism & Related Disorders | 摘要: | Mitochondrial membrane protein‒associated neurodegeneration (MPAN) is a rare genetic disease characterized by progressive neurodegeneration with brain iron accumulations combined with neuronal α-synuclein and tau aggregations. Mutations in C19orf12 have been associated with both autosomal recessive and autosomal dominant inheritance patterns of MPAN. |
URI: | https://scholars.lib.ntu.edu.tw/handle/123456789/631016 | ISSN: | 1353-8020 | DOI: | 10.1016/j.parkreldis.2023.105353 |
顯示於: | 基因體暨蛋白體醫學研究所 |
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