Article
Mutation in the Scyl1 gene encoding amino-terminal kinase-like protein causes a recessive form of spinocerebellar neurodegeneration.
EMBO reports - 1 Jul 2007
Schmidt Wolfgang M, Kraus Cornelia, Höger Harald, Hochmeister Sonja, Oberndorfer Felicitas, Branka Manuela, Bingemann Sonja, Lassmann Hans, Müller Markus, Macedo-Souza Lúcia Inês, Vainzof Mariz, Zatz Mayana, Reis André, Bittner Reginald E
Abstract excerpt
Here, we show that the murine neurodegenerative disease mdf (autosomal recessive mouse mutant 'muscle deficient') is caused by a loss-of-function mutation in Scyl1, disrupting the expression of N-terminal kinase-like protein, an evolutionarily conserved putative component of the nucleocytoplasmic transport machinery. Scyl1 is prominently expressed in neurons, and enriched at central nervous system synapses and...
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