2. Academic Validation
  3. Mutation in the Scyl1 gene encoding amino-terminal kinase-like protein causes a recessive form of spinocerebellar neurodegeneration

Mutation in the Scyl1 gene encoding amino-terminal kinase-like protein causes a recessive form of spinocerebellar neurodegeneration

  • EMBO Rep. 2007 Jul;8(7):691-7. doi: 10.1038/sj.embor.7401001.
Wolfgang M Schmidt 1,  Cornelia Kraus,  Harald Höger,  Sonja Hochmeister,  Felicitas Oberndorfer,  Manuela Branka,  Sonja Bingemann,  Hans Lassmann,  Markus Müller,  Lúcia Inês Macedo-Souza,  Mariz Vainzof,  Mayana Zatz,  André Reis,  Reginald E Bittner
Affiliations

Affiliation

  • 1 Neuromuscular Research Department, Center of Anatomy & Cell Biology, Medical University of Vienna, Währinger Strasse 13, A-1090 Vienna, Austria.
PMID: 17571074 DOI: 10.1038/sj.embor.7401001
Abstract

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.

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