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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: The Company of Biologists Ltd 2019
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6826018/
https://www.ncbi.nlm.nih.gov/pubmed/31519738
http://dx.doi.org/10.1242/dmm.038596

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6826018/
https://www.ncbi.nlm.nih.gov/pubmed/31519738
http://dx.doi.org/10.1242/dmm.038596

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