A Phenotype-Driven Approach to Generate Mouse Models with Pathogenic mtDNA Mutations Causing Mitochondrial Disease
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- 作者：Johanna H.K. Kauppila1 ; 5 ; Holly L. Baines2 ; 5 ; Ana Bratic1 ; Marie-Lune Simard1 ; Christoph Freyer3 ; Arnaud Mourier1 ; Craig Stamp2 ; Roberta Filograna3 ; Nils-Gö ; ran Larsson1 ; 3 ; larsson@age.mpg.de" class="auth_mail" title="E-mail the corresponding author ; Laura C. Greaves2 ; 4 ; James B. Stewart1 ; 6 ; jstewart@age.mpg.de" class="auth_mail" title="E-mail the corresponding author
- 刊名：Cell Reports
- 出版年：2016
- 出版时间：13 September 2016
- 年：2016
- 卷：16
- 期：11
- 页码：2980-2990
- 全文大小：2878 K
文摘
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We present a method to isolate and identify pathogenic mtDNA mutations in mice
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We describe a mouse with a pathogenic mutation in the mitochondrial tRNAALA gene
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The mice display disrupted mitochondrial translation as a result of the mutation
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The mice display molecular and histochemical symptoms of human mitochondrial disease