Defective mitochondrial mRNA maturation is associated with spastic ataxia
about
LRPPRC is necessary for polyadenylation and coordination of translation of mitochondrial mRNAsEvolutionary conservation and expression of human RNA-binding proteins and their role in human genetic diseaseThe human mitochondrial transcriptome and the RNA-binding proteins that regulate its expressionDefinition of transcriptome-based indices for quantitative characterization of chemically disturbed stem cell development: introduction of the STOP-Toxukn and STOP-Toxukk tests.Homozygous mutation of MTPAP causes cellular radiosensitivity and persistent DNA double-strand breaks.Helicase SUV3, polynucleotide phosphorylase, and mitochondrial polyadenylation polymerase form a transient complex to modulate mitochondrial mRNA polyadenylated tail lengths in response to energetic changes.Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy.A human mitochondrial poly(A) polymerase mutation reveals the complexities of post-transcriptional mitochondrial gene expression.Mitochondrial energy failure in HSD10 disease is due to defective mtDNA transcript processingPDE12 removes mitochondrial RNA poly(A) tails and controls translation in human mitochondriaMaternally inherited mitochondrial DNA disease in consanguineous families.Spectrum of combined respiratory chain defects.Mitochondrial transcript maturation and its disordersMitochondrial poly(A) polymerase and polyadenylation.SUV3 helicase is required for correct processing of mitochondrial transcripts.Mitochondrial Polyadenylation Is a One-Step Process Required for mRNA Integrity and tRNA Maturation.Heterozygous deletions at the ZEB1 locus verify haploinsufficiency as the mechanism of disease for posterior polymorphous corneal dystrophy type 3.Systematic review of autosomal recessive ataxias and proposal for a classification.To live or to die: a matter of processing damaged DNA termini in neurons.Revisiting genotype-phenotype overlap in neurogenetics: triplet-repeat expansions mimicking spastic paraplegias.Mitochondria: impaired mitochondrial translation in human diseaseMaturation of selected human mitochondrial tRNAs requires deadenylation.Overcoming the divide between ataxias and spastic paraplegias: Shared phenotypes, genes, and pathways.Structure of mitochondrial poly(A) RNA polymerase reveals the structural basis for dimerization, ATP selectivity and the SPAX4 disease phenotype.Bone marrow failure and developmental delay caused by mutations in poly(A)-specific ribonuclease (PARN).RNA modification landscape of the human mitochondrial tRNA regulates protein synthesis
P2860
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P2860
Defective mitochondrial mRNA maturation is associated with spastic ataxia
description
2010 nî lūn-bûn
@nan
2010 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年学术文章
@wuu
2010年学术文章
@zh-cn
2010年学术文章
@zh-hans
2010年学术文章
@zh-my
2010年学术文章
@zh-sg
2010年學術文章
@yue
name
Defective mitochondrial mRNA maturation is associated with spastic ataxia
@ast
Defective mitochondrial mRNA maturation is associated with spastic ataxia
@en
Defective mitochondrial mRNA maturation is associated with spastic ataxia
@nl
type
label
Defective mitochondrial mRNA maturation is associated with spastic ataxia
@ast
Defective mitochondrial mRNA maturation is associated with spastic ataxia
@en
Defective mitochondrial mRNA maturation is associated with spastic ataxia
@nl
prefLabel
Defective mitochondrial mRNA maturation is associated with spastic ataxia
@ast
Defective mitochondrial mRNA maturation is associated with spastic ataxia
@en
Defective mitochondrial mRNA maturation is associated with spastic ataxia
@nl
P2093
P2860
P50
P1476
Defective mitochondrial mRNA maturation is associated with spastic ataxia
@en
P2093
Ali Al-Memar
Andrew H Crosby
Gaurav Harlalka
Harold E Cross
Heema Patel
Johanna A Reed
Katherine Dick
Michael A Patton
Reza Sharifi
P2860
P304
P356
10.1016/J.AJHG.2010.09.013
P407
P577
2010-10-21T00:00:00Z