Condition: Charcot-Marie-Tooth disease, Type 2D
rs137852643 in
GARS1 gene and
Charcot-Marie-Tooth disease, Type 2D
PMID 26244500 2015 Two Novel De Novo GARS Mutations Cause Early-Onset Axonal Charcot-Marie-Tooth Disease.
PMID 20169446 2010 Charcot-Marie-Tooth disease type 2D with a novel glycyl-tRNA synthetase gene (GARS) mutation.
PMID 25168514 2014 Impaired function is a common feature of neuropathy-associated glycyl-tRNA synthetase mutations.
PMID 24604904 2014 Application of whole exome sequencing in undiagnosed inherited polyneuropathies.
PMID 17035524 2006 Functional analyses of glycyl-tRNA synthetase mutations suggest a key role for tRNA-charging enzymes in peripheral axons.
PMID 26503042 2015 CMT2D neuropathy is linked to the neomorphic binding activity of glycyl-tRNA synthetase.
PMID 17101916 2006 Severe childhood SMA and axonal CMT due to anticodon binding domain mutations in the GARS gene.
PMID 17663003 2007 Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndrome.
PMID 12690580 2003 Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V.
PMID 21737751 2011 Dispersed disease-causing neomorphic mutations on a single protein promote the same localized conformational opening.
PMID 17595294 2007 Charcot-Marie-Tooth disease-associated mutant tRNA synthetases linked to altered dimer interface and neurite distribution defect.
PMID 26633545 2016 Molecular diagnostic experience of whole-exome sequencing in adult patients.
PMID 17544401 2007 Crystal structure of human wildtype and S581L-mutant glycyl-tRNA synthetase, an enzyme underlying distal spinal muscular atrophy.
PMID 24669931 2014 Compound heterozygous mutations in glycyl-tRNA synthetase are a proposed cause of systemic mitochondrial disease.