id	author	title	date	pages	extension	mime	words	sentences	flesch	summary	cache	txt
work_yjfa4hjqfve7ldfrku3f26swnm	Andrew H. Crosby	Defective Mitochondrial mRNA Maturation Is Associated with Spastic Ataxia	2010.0	6	.pdf	application/pdf	3207	360	55	In human mitochondria, polyadenylation of mRNA, undertaken by the nuclear-encoded mitochondrial poly(A) RNA polymerase, is optic atrophy, present among the Old Order Amish, identified a mutation of MTPAP associated with the disease phenotype. subjected to poly(A) tail-length assays, mitochondrial mRNAs from affected individuals were shown to have severely truncated poly(A) 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 mitochondrial poly(A) RNA polymerase gene MTPAP RNA (2.5 mg) from each individual was ligated to linker and subjected to the mitochondrial poly(A) tail-length assay as described in 4. Simpson, M.A., Cross, H., Proukakis, C., Pryde, A., Hershberger, R., Chatonnet, A., Patton, M.A., and Crosby, A.H. Defective Mitochondrial mRNA Maturation Is Associated with Spastic Ataxia Defective Mitochondrial mRNA Maturation Is Associated with Spastic Ataxia	./cache/work_yjfa4hjqfve7ldfrku3f26swnm.pdf	./txt/work_yjfa4hjqfve7ldfrku3f26swnm.txt