Article
Defects in the CAPN1 Gene Result in Alterations in Cerebellar Development and Cerebellar Ataxia in Mice and Humans.
Cell reports - 28 Jun 2016
Wang Yubin, Hersheson Joshua, Lopez Dulce, Hammer Monia, Liu Yan, Lee Ka-Hung, Pinto Vanessa, Seinfeld Jeff, Wiethoff Sarah, Sun Jiandong, Amouri Rim, Hentati Faycal, Baudry Neema, Tran Jennifer, Singleton Andrew B, Coutelier Marie, Brice Alexis, Stevanin Giovanni, Durr Alexandra, Bi Xiaoning, Houlden Henry, Baudry Michel
Abstract excerpt
A CAPN1 missense mutation in Parson Russell Terrier dogs is associated with spinocerebellar ataxia. We now report that homozygous or heterozygous CAPN1-null mutations in humans result in cerebellar ataxia and limb spasticity in four independent pedigrees. Calpain-1 knockout (KO) mice also exhibit a mild form of ataxia due to abnormal cerebellar development, including enhanced neuronal apoptosis, decreased number...
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