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

• Asıl Yazarlar: Robert A. Brown (Yazar), Antanina Voit (Yazar), Manasa P. Srikanth (Yazar), Julia A. Thayer (Yazar), Tami J. Kingsbury (Yazar), Marlene A. Jacobson (Yazar), Marta M. Lipinski (Yazar), Ricardo A. Feldman (Yazar), Ola Awad (Yazar)
• Materyal Türü: Kitap
• Baskı/Yayın Bilgisi: The Company of Biologists, 2019-10-01T00:00:00Z.
• Konular: article
• Online Erişim: 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...