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

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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Bibliographic Details
Main Authors: Julien Branchu, Maxime Boutry, Laura Sourd, Marine Depp, Céline Leone, Alexandrine Corriger, Maeva Vallucci, Typhaine Esteves, Raphaël Matusiak, Magali Dumont, Marie-Paule Muriel, Filippo M. Santorelli, Alexis Brice, Khalid Hamid El Hachimi, Giovanni Stevanin, Frédéric Darios
Format: Article
Language:English
Published: Elsevier 2017-06-01
Series:Neurobiology of Disease
Subjects:
Motor neuron
Neurodegeneration
Lysosome
Lipids
SPG11
Online Access:http://www.sciencedirect.com/science/article/pii/S0969996117300359

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http://www.sciencedirect.com/science/article/pii/S0969996117300359

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