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

@article{GabandRodrguez2014HighSL,
  title={High sphingomyelin levels induce lysosomal damage and autophagy dysfunction in Niemann Pick disease type A},
  author={Enrique Gaband{\'e}-Rodr{\'i}guez and Patricia Boya and Ver{\'o}nica Labrador and Carlos G Dotti and Mar{\'i}a Dolores Ledesma},
  journal={Cell Death and Differentiation},
  year={2014},
  volume={21},
  pages={864-875}
}
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… CONTINUE READING
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