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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: eLife Sciences Publications, Ltd 2016
Materias:
Human Biology and Medicine
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4786408/
https://www.ncbi.nlm.nih.gov/pubmed/26812546
http://dx.doi.org/10.7554/eLife.12245

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4786408/
https://www.ncbi.nlm.nih.gov/pubmed/26812546
http://dx.doi.org/10.7554/eLife.12245

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