Ontology highlight
ABSTRACT:
SUBMITTER: Gabande-Rodriguez E
PROVIDER: S-EPMC4013520 | biostudies-literature | 2014 Jun
REPOSITORIES: biostudies-literature
Gabandé-Rodríguez E E Boya P P Labrador V V Dotti C G CG Ledesma M D MD
Cell death and differentiation 20140131 6
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 undegraded molecules build up in neurons of acid sphingomyelinase knockout mice and in fibroblasts from NPA patients in which autophagolysosomes accumulate. The latter is not due to alterations in autophagy in ...[more]