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High sphingomyelin levels induce lysosomal damage and autophagy dysfunction in Niemann Pick disease type A

Niemann Pick disease type A (NPA), which is caused by loss of function mutations in the acid sphingomyelinase (ASM) gene, is a lysosomal storage disorder leading to neurodegeneration. Yet, lysosomal dysfunction and its consequences in the disease are poorly characterized. Here we show that undegrade...

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Bibliografische gegevens
Hoofdauteurs: Gabandé-Rodríguez, E, Boya, P, Labrador, V, Dotti, C G, Ledesma, M D
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Nature Publishing Group 2014
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Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4013520/
https://ncbi.nlm.nih.gov/pubmed/24488099
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/cdd.2014.4
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