Crystal structure of human wildtype and S581L-mutant glycyl-tRNA synthetase, an enzyme underlying distal spinal muscular atrophy
about
Charcot-Marie-Tooth-linked mutant GARS is toxic to peripheral neurons independent of wild-type GARS levelsCrystal structures and biochemical analyses suggest a unique mechanism and role for human glycyl-tRNA synthetase in Ap4A homeostasisGARS axonopathy: not every neuron's cup of tRNAAn ENU-induced mutation in mouse glycyl-tRNA synthetase (GARS) causes peripheral sensory and motor phenotypes creating a model of Charcot-Marie-Tooth type 2D peripheral neuropathyDispersed disease-causing neomorphic mutations on a single protein promote the same localized conformational opening.A recurrent loss-of-function alanyl-tRNA synthetase (AARS) mutation in patients with Charcot-Marie-Tooth disease type 2N (CMT2N)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 and their connections to disease.The crystal structures of the α-subunit of the α(2)β (2) tetrameric Glycyl-tRNA synthetaseTo charge or not to charge: mechanistic insights into neuropathy-associated tRNA synthetase mutationsEmergence and evolution.Expansion of the QARS deficiency phenotype with report of a family with isolated supratentorial brain abnormalities.Human SHMT inhibitors reveal defective glycine import as a targetable metabolic vulnerability of diffuse large B-cell lymphoma.
P2860
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P2860
Crystal structure of human wildtype and S581L-mutant glycyl-tRNA synthetase, an enzyme underlying distal spinal muscular atrophy
description
2007 nî lūn-bûn
@nan
2007 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2007 թվականի հունիսին հրատարակված գիտական հոդված
@hy
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
name
Crystal structure of human wil ...... distal spinal muscular atrophy
@ast
Crystal structure of human wil ...... distal spinal muscular atrophy
@en
Crystal structure of human wil ...... distal spinal muscular atrophy
@en-gb
Crystal structure of human wil ...... distal spinal muscular atrophy
@nl
type
label
Crystal structure of human wil ...... distal spinal muscular atrophy
@ast
Crystal structure of human wil ...... distal spinal muscular atrophy
@en
Crystal structure of human wil ...... distal spinal muscular atrophy
@en-gb
Crystal structure of human wil ...... distal spinal muscular atrophy
@nl
prefLabel
Crystal structure of human wil ...... distal spinal muscular atrophy
@ast
Crystal structure of human wil ...... distal spinal muscular atrophy
@en
Crystal structure of human wil ...... distal spinal muscular atrophy
@en-gb
Crystal structure of human wil ...... distal spinal muscular atrophy
@nl
P2860
P50
P921
P1433
P1476
Crystal structure of human wil ...... distal spinal muscular atrophy
@en
P2093
David K Stammers
Paul A James
P2860
P304
P356
10.1016/J.FEBSLET.2007.05.046
P407
P577
2007-05-29T00:00:00Z