Reduction of sphingomyelinase activity associated with progranulin deficiency and frontotemporal dementia

Reduction of sphingomyelinase activity associated with progranulin deficiency and frontotemporal dementia

Loss-of-function mutations affecting the lysosomal protein progranulin are a leading cause of frontotemporal dementia. Progranulin mutations cause abnormalities in lysosomal lipid processing, particularly of sphingolipids, major components of neural cell membranes that play important signaling roles...

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Bibliographic Details
Main Authors: Nicholas R. Boyle, Stephanie N. Fox, Aniketh S. Tadepalli, Nicholas T. Seyfried, Thomas Kukar, Eliana M. Ramos, Alissa L. Nana, Salvatore Spina, Lea T. Grinberg, Bruce L. Miller, William W. Seeley, Andrew E. Arrant, Erik D. Roberson
Format: Article
Language:English
Published: Elsevier 2025-09-01
Series:Neurobiology of Disease
Subjects:
Frontotemporal dementia
Frontotemporal lobar degeneration
Progranulin
Sphingomyelinase
Sphingolipid
Lysosome
Online Access:http://www.sciencedirect.com/science/article/pii/S0969996125002402
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