Reactivation of mTOR signaling slows neurodegeneration in a lysosomal sphingolipid storage disease

Reactivation of mTOR signaling slows neurodegeneration in a lysosomal sphingolipid storage disease

Sandhoff disease, a lysosomal storage disorder, is caused by pathogenic variants in the HEXB gene, resulting in the loss of β-hexosaminidase activity and accumulation of sphingolipids including GM2 ganglioside. This accumulation occurs primarily in neurons, and leads to progressive neurodegeneration...

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Bibliographic Details
Main Authors: Hongling Zhu, Y. Terry Lee, Colleen Byrnes, Jabili Angina, Danielle A. Springer, Galina Tuymetova, Mari Kono, Cynthia J. Tifft, Richard L. Proia
Format: Article
Language:English
Published: Elsevier 2025-01-01
Series:Neurobiology of Disease
Subjects:
Sphingolipid
Neurodegeneration
mTOR
Lysosome
Ganglioside
Sandhoff disease
Online Access:http://www.sciencedirect.com/science/article/pii/S0969996124003620
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