Antenatal mitochondrial disease caused by mitochondrial ribosomal protein (MRPS22) mutation.
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Mitochondrial translation and beyond: processes implicated in combined oxidative phosphorylation deficienciesHuman G-proteins, ObgH1 and Mtg1, associate with the large mitochondrial ribosome subunit and are involved in translation and assembly of respiratory complexesMitochondrial geneticsEvolutionary conservation and expression of human RNA-binding proteins and their role in human genetic diseaseRibosome. The complete structure of the 55S mammalian mitochondrial ribosomeInfantile encephaloneuromyopathy and defective mitochondrial translation are due to a homozygous RMND1 mutation.Biochemical diagnosis of mitochondrial disordersRibosome. The structure of the human mitochondrial ribosomeMutation in MRPS34 compromises protein synthesis and causes mitochondrial dysfunctionIdentification of novel susceptibility Loci for kawasaki disease in a Han chinese population by a genome-wide association studyA cytoplasmic suppressor of a nuclear mutation affecting mitochondrial functions in Drosophila.Gene expression in a Drosophila model of mitochondrial disease.Renal manifestations of primary mitochondrial disorders.Mitochondrial dysfunction in inherited renal disease and acute kidney injuryAnalysis of the functional consequences of lethal mutations in mitochondrial translational elongation factorsMitochondrial EFTs defects in juvenile-onset Leigh disease, ataxia, neuropathy, and optic atrophy.Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy.Mutation in mitochondrial ribosomal protein MRPS22 leads to Cornelia de Lange-like phenotype, brain abnormalities and hypertrophic cardiomyopathy.HMRF1L is a human mitochondrial translation release factor involved in the decoding of the termination codons UAA and UAG.Renal mitochondrial cytopathies.Opposite phenotypes of muscle strength and locomotor function in mouse models of partial trisomy and monosomy 21 for the proximal Hspa13-App region.Cardiomyopathy is associated with ribosomal protein gene haplo-insufficiency in Drosophila melanogasterA Role for the Mitochondrial Protein Mrpl44 in Maintaining OXPHOS CapacitySpectrum of combined respiratory chain defects.Mechanism of protein biosynthesis in mammalian mitochondria.Mitochondrial Dysfunction Plus High-Sugar Diet Provokes a Metabolic Crisis That Inhibits GrowthMitochondrial and cytoskeletal alterations are involved in the pathogenesis of hydronephrosis in ICR/Mlac-hydro miceMitochondrial ribosome assembly in health and diseaseThe effect of mutated mitochondrial ribosomal proteins S16 and S22 on the assembly of the small and large ribosomal subunits in human mitochondria.Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency.Neonatal mitochondrial encephaloneuromyopathy due to a defect of mitochondrial protein synthesisIdentification and characterization of CHCHD1, AURKAIP1, and CRIF1 as new members of the mammalian mitochondrial ribosome.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.Sexual Dimorphism and Aging in the Human Hyppocampus: Identification, Validation, and Impact of Differentially Expressed Genes by Factorial Microarray and Network Analysis.Pathogenic mutations of nuclear genes associated with mitochondrial disorders.ECOD: new developments in the evolutionary classification of domains.Infantile-onset disorders of mitochondrial replication and protein synthesis.Mechanisms of mitochondrial diseases.A disproportionate role for mtDNA in Dobzhansky-Muller incompatibilities?
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Antenatal mitochondrial disease caused by mitochondrial ribosomal protein (MRPS22) mutation.
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on 14 September 2007
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
Antenatal mitochondrial diseas ...... mal protein (MRPS22) mutation.
@en
Antenatal mitochondrial disease caused by mitochondrial ribosomal protein
@nl
type
label
Antenatal mitochondrial diseas ...... mal protein (MRPS22) mutation.
@en
Antenatal mitochondrial disease caused by mitochondrial ribosomal protein
@nl
prefLabel
Antenatal mitochondrial diseas ...... mal protein (MRPS22) mutation.
@en
Antenatal mitochondrial disease caused by mitochondrial ribosomal protein
@nl
P2093
P2860
P356
P1476
Antenatal mitochondrial diseas ...... mal protein (MRPS22) mutation.
@en
P2093
D Fuchs-Telem
P2860
P304
P356
10.1136/JMG.2007.053116
P407
P50
P577
2007-09-14T00:00:00Z