Journal
EMBO REPORTS
Volume 8, Issue 7, Pages 691-697Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/sj.embor.7401001
Keywords
muscle deficient (mdf); motor neuron disease Purkinje cells; SCY1-like 1 (S. cerevisiae); spinocerebellar ataxia
Categories
Ask authors/readers for more resources
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 neuromuscular junctions. We show that the pathology of mdf comprises cerebellar atrophy, Purkinje cell loss and optic nerve atrophy, and therefore defines a new animal model for neurodegenerative diseases with cerebellar involvement in humans.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available