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Background

Spinocerebellar ataxia type 10 (SCA10) is an autosomal dominant disorder characterized by cerebellar ataxia and seizures. SCA10 is caused by an expansion of an ATTCT pentanucleotide repeat in intron 9 of the ataxin 10 (ATXN10) gene encoding an approximately 55-kd protein of unknown function. However, how this mutation leads to SCA10 is unknown.

Methods

In an effort to understand the pathogenic mechanism of SCA10, the authors conducted a series of experiments to address the effect of repeat expansion on the transcription and RNA processing of the ATXN10 gene. In addition, we generated Sca10 (mouse ataxin 10 homolog)-null mice and addressed the role of Sca10 gene dosage on the cerebellum.

Results

Mutant ATXN10 allele is transcribed at the normal level, and the pre-mRNA containing an expanded repeat is processed normally in patient-derived cells. Sca10-null mice exhibited embryonic lethality. Heterozygous mutants were overtly normal and did not develop SCA10 phenotype

Conclusion

A simple gain of function or loss of function of ATXN10 is unlikely to be the major pathogenic mechanism contributing to the spinocerebellar ataxia type 10 phenotype."xsd:string
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http://purl.uniprot.org/citations/16924013http://purl.uniprot.org/core/author"Gao R."xsd:string
http://purl.uniprot.org/citations/16924013http://purl.uniprot.org/core/author"Liu Y."xsd:string
http://purl.uniprot.org/citations/16924013http://purl.uniprot.org/core/author"Lin X."xsd:string
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http://purl.uniprot.org/citations/16924013http://purl.uniprot.org/core/author"Matsuura T."xsd:string
http://purl.uniprot.org/citations/16924013http://purl.uniprot.org/core/author"Wakamiya M."xsd:string
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http://purl.uniprot.org/citations/16924013http://purl.uniprot.org/core/author"Sarkar P.S."xsd:string
http://purl.uniprot.org/citations/16924013http://purl.uniprot.org/core/author"Schuster G.C."xsd:string
http://purl.uniprot.org/citations/16924013http://purl.uniprot.org/core/date"2006"xsd:gYear
http://purl.uniprot.org/citations/16924013http://purl.uniprot.org/core/name"Neurology"xsd:string
http://purl.uniprot.org/citations/16924013http://purl.uniprot.org/core/pages"607-613"xsd:string
http://purl.uniprot.org/citations/16924013http://purl.uniprot.org/core/title"The role of ataxin 10 in the pathogenesis of spinocerebellar ataxia type 10."xsd:string
http://purl.uniprot.org/citations/16924013http://purl.uniprot.org/core/volume"67"xsd:string
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