Article
A mutation of spastin is responsible for swellings and impairment of transport in a region of axon characterized by changes in microtubule composition.
Human molecular genetics - 15 Dec 2006
Tarrade Anne, Fassier Coralie, Courageot Sabrina, Charvin Delphine, Vitte Jérémie, Peris Leticia, Thorel Alain, Mouisel Etienne, Fonknechten Nuria, Roblot Natacha, Seilhean Danielle, Diérich Andrée, Hauw Jean Jacques, Melki Judith
Abstract excerpt
Mutations of the spastin gene (Sp) are responsible for the most frequent autosomal dominant form of spastic paraplegia, a disease characterized by the degeneration of corticospinal tracts. We show that a deletion in the mouse Sp gene, generating a premature stop codon, is responsible for progressive axonal degeneration, restricted to the central nervous system, leading to a late and mild motor defect. The...
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