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mTOR dysfunction contributes to vacuolar pathology and weakness in valosin-containing protein associated inclusion body myopathy

Autophagy is dysfunctional in many degenerative diseases including myopathies. Mutations in valosin-containing protein (VCP) cause inclusion body myopathy (IBM) associated with Paget's disease of the bone, fronto-temporal dementia and amyotrophic lateral sclerosis (IBMPFD/ALS). VCP is necessary...

Ausführliche Beschreibung

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Bibliographische Detailangaben
Hauptverfasser: Ching, James K., Elizabeth, Sarita V., Ju, Jeong-Sun, Lusk, Caleb, Pittman, Sara K., Weihl, Conrad C.
Format: Artigo
Sprache:Inglês
Veröffentlicht: Oxford University Press 2013
Schlagworte:
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3657474/
https://ncbi.nlm.nih.gov/pubmed/23250913
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/dds524
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