CLP1 Founder Mutation Links tRNA Splicing and Maturation to Cerebellar Development and Neurodegeneration
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- 作者：Ashleigh E. Schaffer1 ; Veerle R.C. Eggens2 ; Ahmet Okay Caglayan3 ; Miriam S. Reuter4 ; Eric Scott1 ; Nicole G. Coufal1 ; Jennifer L. Silhavy1 ; Yuanchao Xue5 ; Hulya Kayserili6 ; Katsuhito Yasuno3 ; Rasim Ozgur Rosti1 ; Mostafa Abdellateef1 ; Caner Caglar3 ; Paul R. Kasher2 ; J. Leonie Cazemier2 ; Marian A. Weterman2 ; Vincent Cantagrel1 ; 7 ; Na Cai1 ; Christiane Zweier4 ; Umut Altunoglu6 ; N. Bilge Satkin6 ; Fesih Aktar8 ; Beyhan Tuysuz9 ; Cengiz Yalcinkaya10 ; Huseyin Caksen11 ; Kaya Bilguvar3 ; Xiang-Dong Fu5 ; Christopher R. Trotta12 ; Stacey Gabriel13 ; André ; Reis4 ; Murat Gunel3 ; 14 ; Frank Baas2 ; 14 ; Joseph G. Gleeson1 ; 14 ; jogleeson@ucsd.edu" class="auth_mail
- 刊名：Cell
- 出版年：24 April 2014
- 年：2014
- 卷：157
- 期：3
- 页码：651-663
- 全文大小：1831 K
文摘
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A human CLP1 mutation causes brain and motor neuron degeneration
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Mutation impairs kinase activity, nuclear localization, and TSEN complex assembly
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Patient iNeurons have accumulated pre-tRNA and reduced mature tRNA
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Clp1 mutant zebrafish display p53-dependent neurodegeneration