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Loss of spatacsin impairs cholesterol trafficking and calcium homeostasis

Mutations in SPG11, leading to loss of spatacsin function, impair the formation of membrane tubules in lysosomes and cause lysosomal lipid accumulation. However, the full nature of lipids accumulating in lysosomes and the physiological consequences of such accumulation are unknown. Here we show that...

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Detalles Bibliográficos
Autores principales: Boutry, Maxime, Pierga, Alexandre, Matusiak, Raphaël, Branchu, Julien, Houllegatte, Marc, Ibrahim, Yoan, Balse, Elise, El Hachimi, Khalid-Hamid, Brice, Alexis, Stevanin, Giovanni, Darios, Frédéric
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6797781/
https://www.ncbi.nlm.nih.gov/pubmed/31637311
http://dx.doi.org/10.1038/s42003-019-0615-z