Altered RNA splicing contributes to skeletal muscle pathology in Kennedy disease knock-in mice

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Altered RNA splicing contributes to skeletal muscle pathology in Kennedy disease knock-in mice.

Here, we used a mouse model of Kennedy disease, a degenerative disorder caused by an expanded CAG repeat in the androgen receptor (AR) gene, to explore pathways leading to cellular dysfunction. We demonstrate that male mice containing a targeted Ar allele with 113 CAG repeats (AR113Q mice) exhibit hormone- and glutamine length-dependent missplicing of Clcn1 RNA in skeletal muscle. Changes in RN...

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Kennedy disease, a degenerative disorder characterized by androgen-dependent neuromuscular weakness, is caused by a CAG/glutamine tract expansion in the androgen receptor (Ar) gene. We developed a mouse model of Kennedy disease, using gene targeting to convert mouse androgen receptor (AR) to human sequence while introducing 113 glutamines. AR113Q mice developed hormone and glutamine length-depe...

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ژورنال

عنوان ژورنال: Disease Models & Mechanisms

سال: 2009

ISSN: 1754-8411,1754-8403

DOI: 10.1242/dmm.003301