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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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Bibliografiske detaljer
Udgivet i: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
Format: Artigo
Sprog:Inglês
Udgivet: The Company of Biologists Ltd 2019
Fag:
Online adgang: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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