Defects in the CAPN1 gene result in alterations in cerebellar development and in cerebellar ataxia in mice and humans

A CAPN1 missense mutation in Parson Russell Terrier dogs is associated with spinocerebellar ataxia. We now report that homozygous CAPN1 null mutations in humans result in cerebellar ataxia and limb spasticity in four independent pedigrees. Calpain-1 knock-out (KO) mice also exhibit a mild form of at...

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Detalhes bibliográficos
Publicado no:Cell Rep
Main Authors: Wang, Yubin, Hersheson, Joshua, Lopez, Dulce, Hamad, Monia Ben, 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
Formato: Artigo
Idioma:Inglês
Publicado em: 2016
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4927383/
https://ncbi.nlm.nih.gov/pubmed/27320912
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.celrep.2016.05.044
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