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Deficiency of the frontotemporal dementia gene GRN results in gangliosidosis

Progranulin-deficieny results in gangliosidosis due to reduced lysosomal lipids (BMP) required for ganglioside degradation. Lysosomal ganglioside accumulation may contribute to neuroinflammation and neurodegeneration susceptibility observed in FTD.

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Principais autores: Sebastian Boland, Sharan Swarup, Yohannes A. Ambaw, Pedro C. Malia, Ruth C. Richards, Alexander W. Fischer, Shubham Singh, Geetika Aggarwal, Salvatore Spina, Alissa L. Nana, Lea T. Grinberg, William W. Seeley, Michal A. Surma, Christian Klose, Joao A. Paulo, Andrew D. Nguyen, J. Wade Harper, Tobias C. Walther, Robert V. Farese
Format: Artigo
Sprog:Inglês
Udgivet: Nature Portfolio 2022-10-01
Serier:Nature Communications
Online adgang:https://doi.org/10.1038/s41467-022-33500-9
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