Mutation in ATG5 reduces autophagy and leads to ataxia with developmental delay

Autophagy is required for the homeostasis of cellular material and is proposed to be involved in many aspects of health. Defects in the autophagy pathway have been observed in neurodegenerative disorders; however, no genetically-inherited pathogenic mutations in any of the core autophagy-related (AT...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:eLife
Main Authors: Kim, Myungjin, Sandford, Erin, Gatica, Damian, Qiu, Yu, Liu, Xu, Zheng, Yumei, Schulman, Brenda A, Xu, Jishu, Semple, Ian, Ro, Seung-Hyun, Kim, Boyoung, Mavioglu, R Nehir, Tolun, Aslıhan, Jipa, Andras, Takats, Szabolcs, Karpati, Manuela, Li, Jun Z, Yapici, Zuhal, Juhasz, Gabor, Lee, Jun Hee, Klionsky, Daniel J, Burmeister, Margit
Formato: Artigo
Idioma:Inglês
Publicado em: eLife Sciences Publications, Ltd 2016
Assuntos:
Human Biology and Medicine
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4786408/
https://ncbi.nlm.nih.gov/pubmed/26812546
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7554/eLife.12245
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados