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PD-linked CHCHD2 mutations impair CHCHD10 and MICOS complex leading to mitochondria dysfunction

Coiled-coil-helix-coiled-coil-helix domain containing protein 2 (CHCHD2) mutations were linked with autosomal dominant Parkinson’s disease (PD) and recently, Alzheimer’s disease/frontotemporal dementia. In the current study, we generated isogenic human embryonic stem cell (hESC) lines harboring PD-a...

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Detalles Bibliográficos
Autores principales: Zhou, Wei, Ma, Dongrui, Sun, Alfred Xuyang, Tran, Hoang-Dai, Ma, Dong-liang, Singh, Brijesh K, Zhou, Jin, Zhang, Jinyan, Wang, Danlei, Zhao, Yi, Yen, Paul M, Goh, Eyleen, Tan, Eng-King
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6423417/
https://www.ncbi.nlm.nih.gov/pubmed/30496485
http://dx.doi.org/10.1093/hmg/ddy413