Pathogenic mechanism of a human mitochondrial tRNAPhe mutation associated with myoclonic epilepsy with ragged red fibers syndrome.

Pathogenic mechanism of a human mitochondrial tRNAPhe mutation associated with myoclonic epilepsy with ragged red fibers syndrome.

Item
http://www.wikidata.org/entity/Q36024220
Human mitochondrial diseases caused by lack of taurine modification in mitochondrial tRNAsMechanistic insights into cognate substrate discrimination during proofreading in translationThe yeast PNC1 longevity gene is up-regulated by mRNA mistranslation.tRNA biology in mitochondriaExpanding the genetic code of Escherichia coli with phosphoserineComputational analysis of tRNA identity.The cost of wobble translation in fungal mitochondrial genomes: integration of two traditional hypotheses.Human mitochondrial leucyl-tRNA synthetase corrects mitochondrial dysfunctions due to the tRNALeu(UUR) A3243G mutation, associated with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like symptoms and diabetesIs mitochondrial tRNA(phe) variant m.593T>C a synergistically pathogenic mutation in Chinese LHON families with m.11778G>A?Mitochondrial transcript maturation and its disordersMechanism of protein biosynthesis in mammalian mitochondria.Anticodon G recognition by tRNA synthetases mimics the tRNA core.A disease-causing point mutation in human mitochondrial tRNAMet results in tRNA misfolding leading to defects in translational initiation and elongation.Large-scale movement of functional domains facilitates aminoacylation by human mitochondrial phenylalanyl-tRNA synthetase.Novel human mitochondrial tRNA phe mutation in a patient with hearing impairment: a case study.TRMT1-Catalyzed tRNA Modifications Are Required for Redox Homeostasis To Ensure Proper Cellular Proliferation and Oxidative Stress Survival.Mutations in FARS2 and non-fatal mitochondrial dysfunction in two siblings.
P2860

Pathogenic mechanism of a human mitochondrial tRNAPhe mutation associated with myoclonic epilepsy with ragged red fibers syndrome.

Item
http://www.wikidata.org/entity/Q36024220
description
2007 nî lūn-bûn
@nan
2007年の論文
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2007年学术文章
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2007年学术文章
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2007年学术文章
@zh-hans
2007年学术文章
@zh-my
2007年学术文章
@zh-sg
2007年學術文章
@yue
2007年學術文章
@zh
2007年學術文章
@zh-hant
name
Pathogenic mechanism of a huma ...... th ragged red fibers syndrome.
@ast
Pathogenic mechanism of a huma ...... th ragged red fibers syndrome.
@en
type
label
Pathogenic mechanism of a huma ...... th ragged red fibers syndrome.
@ast
Pathogenic mechanism of a huma ...... th ragged red fibers syndrome.
@en
prefLabel
Pathogenic mechanism of a huma ...... th ragged red fibers syndrome.
@ast
Pathogenic mechanism of a huma ...... th ragged red fibers syndrome.
@en
P1433
P1476
P2093
P2860
P304
P31
P356
P407
P433
P478
P50
P577
P5875
P698
P932
P356
P1433
P1476
Pathogenic mechanism of a huma ...... ith ragged red fibers syndrome
@en
P2093
P2860
P304
P31
P356
P407
P433
P478
P50
P577
P5875
P698
P932