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

• Main Authors: Robert A. Brown (Author), Antanina Voit (Author), Manasa P. Srikanth (Author), Julia A. Thayer (Author), Tami J. Kingsbury (Author), Marlene A. Jacobson (Author), Marta M. Lipinski (Author), Ricardo A. Feldman (Author), Ola Awad (Author)
• Format: Book
• Published: The Company of Biologists, 2019-10-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...