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Article

Functional analyses of glycyl-tRNA synthetase mutations suggest a key role for tRNA-charging enzymes in peripheral axons.

The Journal of neuroscience : the official journal of the Society for Neuroscience - 11 Oct 2006

Antonellis Anthony, Lee-Lin Shih-Queen, Wasterlain Amy, Leo Paul, Quezado Martha, Goldfarb Lev G, Myung Kyungjae, Burgess Shawn, Fischbeck Kenneth H, Green Eric D

Abstract excerpt

Charcot-Marie-Tooth disease type 2D (CMT2D) and distal spinal muscular atrophy type V (dSMA-V) are axonal neuropathies characterized by a phenotype that is more severe in the upper extremities. We previously implicated mutations in the gene encoding glycyl-tRNA synthetase (GARS) as the cause of CMT2D and dSMA-V. GARS is a member of the family of aminoacyl-tRNA synthetases responsible for charging tRNA with...

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Identifiers

PMID: 17035524
DOI: 10.1523/JNEUROSCI.1671-06.2006
PMCID: PMC6674701

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Functional analyses of glycyl-tRNA synthetase mutations suggest a key role for tRNA-charging enzymes in peripheral axons.PMID 17035524Read ↗

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To charge or not to charge: mechanistic insights into neuropathy-associated tRNA synthetase mutations.Semantic proximity Read ↗

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Compound heterozygosity for loss-of-function GARS variants results in a multisystem developmental syndrome that includes severe growth retardation.Semantic proximity Read ↗

An 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 neuropathy.Semantic proximity Read ↗

CMT2D neuropathy is linked to the neomorphic binding activity of glycyl-tRNA synthetase.Semantic proximity Read ↗

Dominant, toxic gain-of-function mutations in gars lead to non-cell autonomous neuropathology.Semantic proximity Read ↗

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