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

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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Bibliographic Details
Main Authors: Robert A. Brown, Antanina Voit, Manasa P. Srikanth, Julia A. Thayer, Tami J. Kingsbury, Marlene A. Jacobson, Marta M. Lipinski, Ricardo A. Feldman, Ola Awad
Format: Article
Language:English
Published: The Company of Biologists 2019-10-01
Series:Disease Models & Mechanisms
Subjects:
lysosomal storage disorder
gba1 mutations
tfeb
ipsc
mtorc1
Online Access:http://dmm.biologists.org/content/12/10/dmm038596

Internet

http://dmm.biologists.org/content/12/10/dmm038596

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