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SHR Neuro Cancer Cardio Lipid Metab Microb
Schmidt, WM; Kraus, C; Hoger, H; Hochmeister, S; Oberndorfer, F; Branka, M; Bingemann, S; Lassmann, H; Mueller, M; Macedo-Souza, LI; Vainzof, M; Zatz, M; Reis, A; Bittner, RE.
Mutation in the Scyl1 gene encoding amino-terminal kinase-like protein causes a recessive form of spinocerebellar neurodegeneration.
EMBO REP. 2007; 8(7): 691-697.
Doi: 10.1038/sj.embor.7401001
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- Co-authors Med Uni Graz
- Hochmeister Sonja
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- 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.
- Find related publications in this database (using NLM MeSH Indexing)
- Animals -
- Crosses, Genetic -
- Genes, Recessive -
- Humans -
- Immunohistochemistry -
- In Situ Hybridization -
- Mice -
- Mice, Inbred C57BL -
- Mice, Mutant Strains -
- Mutation -
- Nerve Degeneration - genetics
- Physical Chromosome Mapping - genetics
- Protein Kinases - chemistry
- Protein Structure, Tertiary - chemistry
- RNA, Messenger - metabolism
- Spinocerebellar Ataxias - genetics
- Transcription Factors - genetics
- Find related publications in this database (Keywords)
- muscle deficient (mdf)
- motor neuron disease Purkinje cells
- SCY1-like 1 (S. cerevisiae)
- spinocerebellar ataxia