共查询到20条相似文献,搜索用时 31 毫秒
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Crosby AH Patel H Chioza BA Proukakis C Gurtz K Patton MA Sharifi R Harlalka G Simpson MA Dick K Reed JA Al-Memar A Chrzanowska-Lightowlers ZM Cross HE Lightowlers RN 《American journal of human genetics》2010,87(5):655-660
In human mitochondria, polyadenylation of mRNA, undertaken by the nuclear-encoded mitochondrial poly(A) RNA polymerase, is essential for maintaining mitochondrial gene expression. Our molecular investigation of an autosomal-recessive spastic ataxia with optic atrophy, present among the Old Order Amish, identified a mutation of MTPAP associated with the disease phenotype. When subjected to poly(A) tail-length assays, mitochondrial mRNAs from affected individuals were shown to have severely truncated poly(A) tails. Although defective mitochondrial DNA maintenance underlies a well-described group of clinical disorders, our findings reveal a defect of mitochondrial mRNA maturation associated with human disease and imply that this disease mechanism should be considered in other complex neurodegenerative disorders. 相似文献
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Slomovic S Portnoy V Yehudai-Resheff S Bronshtein E Schuster G 《Biochimica et biophysica acta》2008,1779(4):247-255
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MicroRNA genes are transcribed by RNA polymerase II 总被引:68,自引:0,他引:68