Dispersed disease-causing neomorphic mutations on a single protein promote the same localized conformational opening.
about
CMT2D neuropathy is linked to the neomorphic binding activity of glycyl-tRNA synthetase.Cocrystal Structures of Glycyl-tRNA Synthetase in Complex with tRNA Suggest Multiple Conformational States in GlycylationEvolutionary Gain of Alanine Mischarging to Noncognate tRNAs with a G4:U69 Base PairTrk receptor signaling and sensory neuron fate are perturbed in human neuropathy caused by Gars mutations.Secreted histidyl-tRNA synthetase splice variants elaborate major epitopes for autoantibodies in inflammatory myositis.Neuromuscular junction maturation defects precede impaired lower motor neuron connectivity in Charcot-Marie-Tooth type 2D miceImpaired function is a common feature of neuropathy-associated glycyl-tRNA synthetase mutationsMistranslation of the genetic code.Dominant, toxic gain-of-function mutations in gars lead to non-cell autonomous neuropathology.A loss-of-function variant in the human histidyl-tRNA synthetase (HARS) gene is neurotoxic in vivoAminoacyl-tRNA synthetases in medicine and diseaseHuman mitochondrial disease-like symptoms caused by a reduced tRNA aminoacylation activity in flies.Neddylation requires glycyl-tRNA synthetase to protect activated E2.Essential nontranslational functions of tRNA synthetases.Structural disorder in expanding the functionome of aminoacyl-tRNA synthetases.Exome sequencing identifies a significant variant in methionyl-tRNA synthetase (MARS) in a family with late-onset CMT2Architecture and metamorphosis.Emerging Mechanisms of Aminoacyl-tRNA Synthetase Mutations in Recessive and Dominant Human Disease.Alternative stable conformation capable of protein misinteraction links tRNA synthetase to peripheral neuropathy.Peripheral neuropathy via mutant tRNA synthetases: Inhibition of protein translation provides a possible explanation.Recent advances in the genetic neuropathies.Neuropilin 1 sequestration by neuropathogenic mutant glycyl-tRNA synthetase is permissive to vascular homeostasisA WHEP Domain Regulates the Dynamic Structure and Activity of Caenorhabditis elegans Glycyl-tRNA SynthetasePlexin-Semaphorin Signaling Modifies Neuromuscular Defects in a Drosophila Model of Peripheral Neuropathy.Aberrant GlyRS-HDAC6 interaction linked to axonal transport deficits in Charcot-Marie-Tooth neuropathy.
P2860
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P2860
Dispersed disease-causing neomorphic mutations on a single protein promote the same localized conformational opening.
description
2011 nî lūn-bûn
@nan
2011 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2011年の論文
@ja
2011年学术文章
@wuu
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
name
Dispersed disease-causing neom ...... alized conformational opening.
@ast
Dispersed disease-causing neom ...... alized conformational opening.
@en
type
label
Dispersed disease-causing neom ...... alized conformational opening.
@ast
Dispersed disease-causing neom ...... alized conformational opening.
@en
prefLabel
Dispersed disease-causing neom ...... alized conformational opening.
@ast
Dispersed disease-causing neom ...... alized conformational opening.
@en
P2093
P2860
P356
P1476
Dispersed disease-causing neom ...... alized conformational opening.
@en
P2093
Alan G Marshall
Hui-Min Zhang
Xiang-Lei Yang
Yeeting E Chong
P2860
P304
12307-12312
P356
10.1073/PNAS.1104293108
P407
P577
2011-07-07T00:00:00Z