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

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...

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Bibliographic Details
Main Authors: Myungjin Kim, Erin Sandford, Damian Gatica, Yu Qiu, Xu Liu, Yumei Zheng, Brenda A Schulman, Jishu Xu, Ian Semple, Seung-Hyun Ro, Boyoung Kim, R Nehir Mavioglu, Aslıhan Tolun, Andras Jipa, Szabolcs Takats, Manuela Karpati, Jun Z Li, Zuhal Yapici, Gabor Juhasz, Jun Hee Lee, Daniel J Klionsky, Margit Burmeister
Format: Article
Language:English
Published: eLife Sciences Publications Ltd 2016-01-01
Series:eLife
Subjects:
ataxia
next generation sequencing
autophagy
Online Access:https://elifesciences.org/articles/12245

Internet

https://elifesciences.org/articles/12245

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