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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Detalhes bibliográficos
Publicado no:Neurobiol Dis
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: Academic Press 2017
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5391847/
https://ncbi.nlm.nih.gov/pubmed/28237315
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.nbd.2017.02.007
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