Defects in the CAPN1 Gene Result in Alterations in Cerebellar Development and Cerebellar Ataxia in Mice and Humans
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- 作者：Yubin Wang1 ; Joshua Hersheson3 ; Dulce Lopez1 ; Monia Hammer5 ; 6 ; Yan Liu1 ; Ka-Hung Lee1 ; Vanessa Pinto2 ; Jeff Seinfeld1 ; Sarah Wiethoff3 ; 4 ; Jiandong Sun2 ; Rim Amouri5 ; Faycal Hentati5 ; Neema Baudry1 ; Jennifer Tran1 ; Andrew B. Singleton6 ; Marie Coutelier7 ; 8 ; 9 ; Alexis Brice7 ; 10 ; Giovanni Stevanin7 ; 9 ; 10 ; Alexandra Durr7 ; 10 ; Xiaoning Bi2 ; Henry Houlden3 ; 11 ; h.houlden@ucl.ac.uk" class="auth_mail" title="E-mail the corresponding author ; Michel Baudry1 ; 11 ; mbaudry@westernu.edu" class="auth_mail" title="E-mail the corresponding author
- 关键词：ataxia ; calpain-1 ; cerebellum ; apoptosis ; development
- 刊名：Cell Reports
- 出版年：2016
- 出版时间：28 June 2016
- 年：2016
- 卷：16
- 期：1
- 页码：79-91
- 全文大小：4627 K
文摘
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Null calpain-1 mutations result in cerebellar ataxia in humans and mice
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Ataxia is due to altered cerebellar development and adult function
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Calpain-1-mediated truncation of PHLPP1 and Akt activation limits postnatal apoptosis
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Pharmacologic or genetic Akt activation reverses developmental alterations and ataxia