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AarF Domain Containing Kinase 3 (ADCK3) Mutant Cells Display Signs of Oxidative Stress, Defects in Mitochondrial Homeostasis and Lysosomal Accumulation

Autosomal recessive ataxias are a clinically diverse group of syndromes that in some cases are caused by mutations in genes with roles in the DNA damage response, transcriptional regulation or mitochondrial function. One of these ataxias, known as Autosomal Recessive Cerebellar Ataxia Type-2 (ARCA-2...

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Detalles Bibliográficos
Autores principales: Cullen, Jason K., Abdul Murad, Norazian, Yeo, Abrey, McKenzie, Matthew, Ward, Micheal, Chong, Kok Leong, Schieber, Nicole L., Parton, Robert G., Lim, Yi Chieh, Wolvetang, Ernst, Maghzal, Ghassan J., Stocker, Roland, Lavin, Martin F.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4751082/
https://www.ncbi.nlm.nih.gov/pubmed/26866375
http://dx.doi.org/10.1371/journal.pone.0148213