Deficiency of the frontotemporal dementia gene GRN results in gangliosidosis

Autor: 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
Jazyk: angličtina
Rok vydání: 2022
Předmět:
Zdroj: Nature Communications, Vol 13, Iss 1, Pp 1-13 (2022)
Druh dokumentu: article
ISSN: 2041-1723
DOI: 10.1038/s41467-022-33500-9
Popis: 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.
Databáze: Directory of Open Access Journals