Loss of spatacsin function alters lysosomal lipid clearance leading to upper and lower motor neuron degeneration

Mutations in SPG11 account for the most common form of autosomal recessive hereditary spastic paraplegia (HSP), characterized by a gait disorder associated with various brain alterations. Mutations in the same gene are also responsible for rare forms of Charcot-Marie-Tooth (CMT) disease and progress...

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Detalles Bibliográficos
Autores principales: Branchu, Julien, Boutry, Maxime, Sourd, Laura, Depp, Marine, Leone, Céline, Corriger, Alexandrine, Vallucci, Maeva, Esteves, Typhaine, Matusiak, Raphaël, Dumont, Magali, Muriel, Marie-Paule, Santorelli, Filippo M., Brice, Alexis, El Hachimi, Khalid Hamid, Stevanin, Giovanni, Darios, Frédéric
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Academic Press 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5391847/
https://www.ncbi.nlm.nih.gov/pubmed/28237315
http://dx.doi.org/10.1016/j.nbd.2017.02.007

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