mTOR hyperactivity mediates lysosomal dysfunction in Gaucher's disease iPSC-neuronal cells

Bi-allelic GBA1 mutations cause Gaucher's disease (GD), the most common lysosomal storage disorder. Neuronopathic manifestations in GD include neurodegeneration, which can be severe and rapidly progressive. GBA1 mutations are also the most frequent genetic risk factors for Parkinson's dise...

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Detalhes bibliográficos
Publicado no:Dis Model Mech
Main Authors: Brown, Robert A., Voit, Antanina, Srikanth, Manasa P., Thayer, Julia A., Kingsbury, Tami J., Jacobson, Marlene A., Lipinski, Marta M., Feldman, Ricardo A., Awad, Ola
Formato: Artigo
Idioma:Inglês
Publicado em: The Company of Biologists Ltd 2019
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6826018/
https://ncbi.nlm.nih.gov/pubmed/31519738
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1242/dmm.038596
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