Human diseases with impaired mitochondrial protein synthesis.
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The human mitochondrial transcriptome and the RNA-binding proteins that regulate its expressionLoss of the RNA-binding protein TACO1 causes late-onset mitochondrial dysfunction in miceCryo-EM structure of the small subunit of the mammalian mitochondrial ribosomeRibosome. The complete structure of the 55S mammalian mitochondrial ribosomeInfantile encephaloneuromyopathy and defective mitochondrial translation are due to a homozygous RMND1 mutation.Activation of a cryptic splice site in the mitochondrial elongation factor GFM1 causes combined OXPHOS deficiency.A cytoplasmic suppressor of a nuclear mutation affecting mitochondrial functions in Drosophila.Novel mutation in mitochondrial Elongation Factor EF-Tu associated to dysplastic leukoencephalopathy and defective mitochondrial DNA translation.MTO1 mutations are associated with hypertrophic cardiomyopathy and lactic acidosis and cause respiratory chain deficiency in humans and yeast.Clinical and functional characterisation of the combined respiratory chain defect in two sisters due to autosomal recessive mutations in MTFMTNovel (ovario) leukodystrophy related to AARS2 mutationsAn Incompatibility between a mitochondrial tRNA and its nuclear-encoded tRNA synthetase compromises development and fitness in Drosophila.Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations.Opposite phenotypes of muscle strength and locomotor function in mouse models of partial trisomy and monosomy 21 for the proximal Hspa13-App region.A Novel Homozygous YARS2 Mutation in Two Italian Siblings and a Review of Literature.MTO1 mediates tissue specificity of OXPHOS defects via tRNA modification and translation optimization, which can be bypassed by dietary intervention.Novel large-range mitochondrial DNA deletions and fatal multisystemic disorder with prominent hepatopathyMechanism of protein biosynthesis in mammalian mitochondria.A Drosophila model for mito-nuclear diseases generated by an incompatible interaction between tRNA and tRNA synthetase.Mechanism of transcription initiation by the yeast mitochondrial RNA polymeraseMitochondrial ribosome assembly in health and diseaseEvolution and diversification of the organellar release factor family.AFG3L2 supports mitochondrial protein synthesis and Purkinje cell survival.The 55S mammalian mitochondrial ribosome and its tRNA-exit region.Challenges of bringing next generation sequencing technologies to clinical molecular diagnostic laboratoriesIdentification and characterization of CHCHD1, AURKAIP1, and CRIF1 as new members of the mammalian mitochondrial ribosome.RNA-DNA differences in human mitochondria restore ancestral form of 16S ribosomal RNAPhenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia.A deafness-associated tRNAAsp mutation alters the m1G37 modification, aminoacylation and stability of tRNAAsp and mitochondrial function.Next-generation sequencing for mitochondrial disordersMitochondria: impaired mitochondrial translation in human diseaseReversible infantile mitochondrial diseases.Protecting the mitochondrial powerhouse.Mutant eIF2B leads to impaired mitochondrial oxidative phosphorylation in vanishing white matter disease.VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies.Underlying role of mitochondrial mutagenesis in the pathogenesis of a disease and current approaches for translational research.Altered 2-thiouridylation impairs mitochondrial translation in reversible infantile respiratory chain deficiency.Biochemical Evidence for a Nuclear Modifier Allele (A10S) in TRMU (Methylaminomethyl-2-thiouridylate-methyltransferase) Related to Mitochondrial tRNA Modification in the Phenotypic Manifestation of Deafness-associated 12S rRNA Mutation.Molecular insights into HSD10 disease: impact of SDR5C1 mutations on the human mitochondrial RNase P complex.Mutation in mitochondrial ribosomal protein S7 (MRPS7) causes congenital sensorineural deafness, progressive hepatic and renal failure and lactic acidemia.
P2860
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P2860
Human diseases with impaired mitochondrial protein synthesis.
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on 25 June 2011
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
Human diseases with impaired mitochondrial protein synthesis.
@en
Human diseases with impaired mitochondrial protein synthesis.
@nl
type
label
Human diseases with impaired mitochondrial protein synthesis.
@en
Human diseases with impaired mitochondrial protein synthesis.
@nl
prefLabel
Human diseases with impaired mitochondrial protein synthesis.
@en
Human diseases with impaired mitochondrial protein synthesis.
@nl
P1476
Human diseases with impaired mitochondrial protein synthesis.
@en
P304
P356
10.1016/J.BBABIO.2011.06.010
P407
P50
P577
2011-06-25T00:00:00Z