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Mutations in ATP6AP2 cause autophagic liver disease in humans

The biogenesis of the proton pump V-ATPase commences with the assembly of the proton pore sector V(0) in the endoplasmic reticulum (ER). This process occurs under the control of a group of assembly factors whose mutations have recently been shown to cause glycosylation disorders with overlapping phe...

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Detalhes bibliográficos
Publicado no:Autophagy
Main Authors: Cannata Serio, Magda, Rujano, Maria A., Simons, Matias
Formato: Artigo
Idioma:Inglês
Publicado em: Taylor & Francis 2018
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6103403/
https://ncbi.nlm.nih.gov/pubmed/29388887
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1080/15548627.2018.1434370
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