Source:http://linkedlifedata.com/resource/pubmed/id/15201271
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
34
|
| pubmed:dateCreated |
2004-8-16
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| pubmed:abstractText |
Spinocerebellar ataxia (SCA) type 10, an autosomal dominant disease characterized by cerebellar ataxia, is caused by a novel pentanucleotide (ATTCT) repeat expansion in the SCA10 gene. Although clinical features of the disease are well characterized, nothing is known so far about the affected SCA10 gene product, ataxin-10 (Atx-10). We have cloned the rat SCA10 gene and expressed the corresponding protein in HEK293 cells. Atx-10 has an apparent molecular mass of approximately 55 kDa and belongs to the family of armadillo repeat proteins. In solution, it tends to form homotrimeric complexes, which associate via a tip-to-tip contact with the concave sides of the molecules facing each other. Atx-10 immunostaining of mouse and human brain sections revealed a predominantly cytoplasmic and perinuclear localization with a clear restriction to olivocerebellar regions. Knock down of SCA10 in primary neuronal cells by small interfering RNAs resulted in an increased apoptosis of cerebellar neurons, arguing for a loss-of-function phenotype in SCA10 patients.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
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| pubmed:month |
Aug
|
| pubmed:issn |
0021-9258
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| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:day |
20
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| pubmed:volume |
279
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| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
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| pubmed:pagination |
35542-50
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| pubmed:dateRevised |
2011-11-4
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| pubmed:meshHeading |
pubmed-meshheading:15201271-Amino Acid Sequence,
pubmed-meshheading:15201271-Animals,
pubmed-meshheading:15201271-Apoptosis,
pubmed-meshheading:15201271-Base Sequence,
pubmed-meshheading:15201271-Cell Survival,
pubmed-meshheading:15201271-Cells, Cultured,
pubmed-meshheading:15201271-Cerebellum,
pubmed-meshheading:15201271-Down-Regulation,
pubmed-meshheading:15201271-Humans,
pubmed-meshheading:15201271-Mice,
pubmed-meshheading:15201271-Molecular Sequence Data,
pubmed-meshheading:15201271-Nerve Tissue Proteins,
pubmed-meshheading:15201271-Rats,
pubmed-meshheading:15201271-Rats, Wistar,
pubmed-meshheading:15201271-Repetitive Sequences, Nucleic Acid,
pubmed-meshheading:15201271-Spinocerebellar Ataxias,
pubmed-meshheading:15201271-Spinocerebellar Degenerations,
pubmed-meshheading:15201271-Tissue Distribution
|
| pubmed:year |
2004
|
| pubmed:articleTitle |
Ataxin-10, the spinocerebellar ataxia type 10 neurodegenerative disorder protein, is essential for survival of cerebellar neurons.
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| pubmed:affiliation |
Institute of Physiology, Vesalgasse 1, University of Basel, 4051 Basel, Switzerland. p.maerz@unibas.ch
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| pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
|