Charcot-Marie-Tooth disease-associated mutant tRNA synthetases linked to altered dimer interface and neurite distribution defect.
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 homeostasisDynamics of axonal mRNA transport and implications for peripheral nerve regenerationGARS 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 neuropathyStructural basis of human triosephosphate isomerase deficiency: mutation E104D is related to alterations of a conserved water network at the dimer interfaceCocrystal Structures of Glycyl-tRNA Synthetase in Complex with tRNA Suggest Multiple Conformational States in Glycylationp23H implicated as cis/trans regulator of AlaXp-directed editing for mammalian cell homeostasisGlycyl-tRNA synthetase specifically binds to the poliovirus IRES to activate translation initiationDispersed disease-causing neomorphic mutations on a single protein promote the same localized conformational opening.Dominant mutations in the tyrosyl-tRNA synthetase gene recapitulate in Drosophila features of human Charcot-Marie-Tooth neuropathy.Dimerization is required for GARS-mediated neurotoxicity in dominant CMT diseaseAnatomical distributional defects in mutant genes associated with dominant intermediate Charcot-Marie-Tooth disease type C in an adenovirus-mediated mouse model.Trk receptor signaling and sensory neuron fate are perturbed in human neuropathy caused by Gars mutations.Noncanonical activity of seryl-tRNA synthetase is involved in vascular development.Functional expansion of human tRNA synthetases achieved by structural inventionsTransfer RNA and human diseaseRNA metabolism in neurodegenerative disease.Noncanonical activity of seryl-transfer RNA synthetase and vascular developmenttRNA synthetase: tRNA aminoacylation and beyondCMT-associated mutations in glycyl- and tyrosyl-tRNA synthetases exhibit similar pattern of toxicity and share common genetic modifiers in Drosophila.Expression, purification, and characterization of rhTyrRS.Neuropathic pain model of peripheral neuropathies mediated by mutations of glycyl-tRNA synthetaseCompound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy.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 mutationsAn assessment of mechanisms underlying peripheral axonal degeneration caused by aminoacyl-tRNA synthetase mutations.Orthogonal use of a human tRNA synthetase active site to achieve multifunctionalityNew functions of aminoacyl-tRNA synthetases beyond translation.Dissociating quaternary structure regulates cell-signaling functions of a secreted human tRNA synthetaseMapping and exome sequencing identifies a mutation in the IARS gene as the cause of hereditary perinatal weak calf syndromeDefects in transient tRNA translocation bypass tRNA synthetase quality control mechanisms.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.Secreted human glycyl-tRNA synthetase implicated in defense against ERK-activated tumorigenesis.Impaired protein translation in Drosophila models for Charcot-Marie-Tooth neuropathy caused by mutant tRNA synthetasesTwo Novel De Novo GARS Mutations Cause Early-Onset Axonal Charcot-Marie-Tooth Disease.A novel therapeutic target for peripheral nerve injury-related diseases: aminoacyl-tRNA synthetases.A loss-of-function variant in the human histidyl-tRNA synthetase (HARS) gene is neurotoxic in vivoInfantile onset CMT2D/dSMA V in monozygotic twins due to a mutation in the anticodon-binding domain of GARS.
P2860
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P2860
Charcot-Marie-Tooth disease-associated mutant tRNA synthetases linked to altered dimer interface and neurite distribution defect.
description
2007 nî lūn-bûn
@nan
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
2007年论文
@zh
2007年论文
@zh-cn
name
Charcot-Marie-Tooth disease-as ...... d neurite distribution defect.
@ast
Charcot-Marie-Tooth disease-as ...... d neurite distribution defect.
@en
type
label
Charcot-Marie-Tooth disease-as ...... d neurite distribution defect.
@ast
Charcot-Marie-Tooth disease-as ...... d neurite distribution defect.
@en
prefLabel
Charcot-Marie-Tooth disease-as ...... d neurite distribution defect.
@ast
Charcot-Marie-Tooth disease-as ...... d neurite distribution defect.
@en
P2093
P2860
P921
P356
P1476
Charcot-Marie-Tooth disease-as ...... nd neurite distribution defect
@en
P2093
Leslie A Nangle
Paul Schimmel
Xiang-Lei Yang
P2860
P304
11239-11244
P356
10.1073/PNAS.0705055104
P407
P50
P577
2007-06-26T00:00:00Z