Isoleucyl-tRNA synthetase levels modulate the penetrance of a homoplasmic m.4277T>C mitochondrial tRNA(Ile) mutation causing hypertrophic cardiomyopathy.
about
Modification of the wobble uridine in bacterial and mitochondrial tRNAs reading NNA/NNG triplets of 2-codon boxesToward a mtDNA locus-specific mutation database using the LOVD platformCardiac involvement in mitochondrial DNA disease: clinical spectrum, diagnosis, and management.Transfer RNA and human diseaseAn Incompatibility between a mitochondrial tRNA and its nuclear-encoded tRNA synthetase compromises development and fitness in Drosophila.Private mitochondrial DNA variants in danish patients with hypertrophic cardiomyopathy.Boswellia serrata Preserves Intestinal Epithelial Barrier from Oxidative and Inflammatory DamageImpaired mitochondrial biogenesis is a common feature to myocardial hypertrophy and end-stage ischemic heart failure.Mutations in the mitochondrial tRNA Ser(AGY) gene are associated with deafness, retinal degeneration, myopathy and epilepsy.Gene-based meta-analysis of genome-wide association studies implicates new loci involved in obesityMutations in mitochondrial DNA causing tubulointerstitial kidney disease.An innovative strategy to clone positive modifier genes of defects caused by mtDNA mutations: MRPS18C as suppressor gene of m.3946G>A mutation in MT-ND1 gene.Inhibition of glucose-6-phosphate dehydrogenase sensitizes cisplatin-resistant cells to death.Short peptides from leucyl-tRNA synthetase rescue disease-causing mitochondrial tRNA point mutations.Coronary heart disease is associated with a mutation in mitochondrial tRNA.Mixing and matching mitochondrial aminoacyl synthetases and their tRNAs: a new way to treat respiratory chain disorders?Emerging aspects of treatment in mitochondrial disorders.Expression of IARS2 gene in colon cancer and effect of its knockdown on biological behavior of RKO cells.Targeting estrogen receptor β as preventive therapeutic strategy for Leber's hereditary optic neuropathy.The phenotypic expression of mitochondrial tRNA-mutations can be modulated by either mitochondrial leucyl-tRNA synthetase or the C-terminal domain thereof.The isolated carboxy-terminal domain of human mitochondrial leucyl-tRNA synthetase rescues the pathological phenotype of mitochondrial tRNA mutations in human cellsHuman mitochondrial leucyl tRNA synthetase can suppress non cognate pathogenic mt-tRNA mutationsMutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with cataracts, growth hormone deficiency with short stature, partial sensorineural deafness, and peripheral neuropathy or with Leigh syndrome.Overexpression of human mitochondrial alanyl-tRNA synthetase suppresses biochemical defects of the mt-tRNA mutation in cybrids
P2860
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P2860
Isoleucyl-tRNA synthetase levels modulate the penetrance of a homoplasmic m.4277T>C mitochondrial tRNA(Ile) mutation causing hypertrophic cardiomyopathy.
description
2011 nî lūn-bûn
@nan
2011年の論文
@ja
2011年学术文章
@wuu
2011年学术文章
@zh
2011年学术文章
@zh-cn
2011年学术文章
@zh-hans
2011年学术文章
@zh-my
2011年学术文章
@zh-sg
2011年學術文章
@yue
2011年學術文章
@zh-hant
name
Isoleucyl-tRNA synthetase leve ...... c m.4277T>C mitochondrial tRNA
@nl
Isoleucyl-tRNA synthetase leve ...... g hypertrophic cardiomyopathy.
@en
type
label
Isoleucyl-tRNA synthetase leve ...... c m.4277T>C mitochondrial tRNA
@nl
Isoleucyl-tRNA synthetase leve ...... g hypertrophic cardiomyopathy.
@en
prefLabel
Isoleucyl-tRNA synthetase leve ...... c m.4277T>C mitochondrial tRNA
@nl
Isoleucyl-tRNA synthetase leve ...... g hypertrophic cardiomyopathy.
@en
P2093
P50
P356
P1476
Isoleucyl-tRNA synthetase leve ...... ng hypertrophic cardiomyopathy
@en
P2093
Annalinda Pisano
Daniela Catanzaro
Elena Perli
Giulia d'Amati
Helen A L Tuppen
Laura Caparrotta
Laura Frontali
Maurizia Orlandi
Monica Montopoli
Pietro Gallo
P304
P356
10.1093/HMG/DDR440
P50
P577
2011-09-26T00:00:00Z