Distinct clinical phenotypes associated with a mutation in the mitochondrial translation elongation factor EFTs
about
Mitochondrial translation and beyond: processes implicated in combined oxidative phosphorylation deficienciesInfantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTumtRF1a is a human mitochondrial translation release factor decoding the major termination codons UAA and UAGEvolutionary conservation and expression of human RNA-binding proteins and their role in human genetic diseaseInfantile encephaloneuromyopathy and defective mitochondrial translation are due to a homozygous RMND1 mutation.Biochemical diagnosis of mitochondrial disordersMolecular-genetic characterization and rescue of a TSFM mutation causing childhood-onset ataxia and nonobstructive cardiomyopathyPolymorphic variation in cytochrome oxidase subunit genes.The Mitochondrial Aminoacyl tRNA Synthetases: Genes and Syndromes.Functional consequences of mitochondrial tRNA Trp and tRNA Arg mutations causing combined OXPHOS defects.GeneDistiller--distilling candidate genes from linkage intervals.The effect of single nucleotide polymorphisms from genome wide association studies in multiple sclerosis on gene expression.The in-depth evaluation of suspected mitochondrial diseaseA compendium of human mitochondrial gene expression machinery with links to disease.Analysis of the functional consequences of lethal mutations in mitochondrial translational elongation factorsDistribution and medical impact of loss-of-function variants in the Finnish founder population.Mitochondrial EFTs defects in juvenile-onset Leigh disease, ataxia, neuropathy, and optic atrophy.Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy.Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing.Familial neonatal isolated cardiomyopathy caused by a mutation in the flavoprotein subunit of succinate dehydrogenase.Mutation in mitochondrial ribosomal protein MRPS22 leads to Cornelia de Lange-like phenotype, brain abnormalities and hypertrophic cardiomyopathy.Mutation in subdomain G' of mitochondrial elongation factor G1 is associated with combined OXPHOS deficiency in fibroblasts but not in muscleHMRF1L is a human mitochondrial translation release factor involved in the decoding of the termination codons UAA and UAG.Mitochondrial proteomics of the retinal pigment epithelium at progressive stages of age-related macular degeneration.Bioenergetic origins of complexity and disease.A Role for the Mitochondrial Protein Mrpl44 in Maintaining OXPHOS CapacitySpectrum of combined respiratory chain defects.Mechanism of protein biosynthesis in mammalian mitochondria.Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasiaAlterations of oxidative phosphorylation in meningiomas and peripheral nerve sheath tumorsExpression and maintenance of mitochondrial DNA: new insights into human disease pathologyIn utero exposure to low doses of environmental pollutants disrupts fetal ovarian development in sheep.Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency.Neonatal mitochondrial encephaloneuromyopathy due to a defect of mitochondrial protein synthesisAntenatal mitochondrial disease caused by mitochondrial ribosomal protein (MRPS22) mutation.Approaches to finding the molecular basis of mitochondrial oxidative phosphorylation disorders.Phenotypic expression of maternally inherited deafness is affected by RNA modification and cytoplasmic ribosomal proteins.West syndrome caused by homozygous variant in the evolutionary conserved gene encoding the mitochondrial elongation factor GUF1Pathogenic mutations of nuclear genes associated with mitochondrial disorders.Neurodevelopmental manifestations of mitochondrial disease.
P2860
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P2860
Distinct clinical phenotypes associated with a mutation in the mitochondrial translation elongation factor EFTs
description
2006 nî lūn-bûn
@nan
2006 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2006 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
name
Distinct clinical phenotypes a ...... slation elongation factor EFTs
@ast
Distinct clinical phenotypes a ...... slation elongation factor EFTs
@en
Distinct clinical phenotypes a ...... slation elongation factor EFTs
@nl
type
label
Distinct clinical phenotypes a ...... slation elongation factor EFTs
@ast
Distinct clinical phenotypes a ...... slation elongation factor EFTs
@en
Distinct clinical phenotypes a ...... slation elongation factor EFTs
@nl
prefLabel
Distinct clinical phenotypes a ...... slation elongation factor EFTs
@ast
Distinct clinical phenotypes a ...... slation elongation factor EFTs
@en
Distinct clinical phenotypes a ...... slation elongation factor EFTs
@nl
P2093
P2860
P50
P356
P1476
Distinct clinical phenotypes a ...... slation elongation factor EFTs
@en
P2093
Avraham Shaag
Bert van den Heuvel
Brigitte Welling
Eric A Shoubridge
Florin Sasarman
Gideon Rechavi
Heleen Diepstra
Jan A M Smeitink
Jasmine Jacob-Hirsch
Jurgen Horst
P2860
P304
P356
10.1086/508434
P407
P577
2006-11-01T00:00:00Z