Charcot-Marie-Tooth Disease
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Dominant mutations cause the disease, and studies of CMT disease-causing mutant glycyl-tRNA synthetase (GlyRS) and tyrosyl-tRNA synthetase (TyrRS) showed their mutations create neomorphic structures consistent with a gain-of-function mechanism.
|
31501329 |
2019 |
Charcot-Marie-Tooth Disease
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Novel GARS mutation presenting as autosomal dominant intermediate Charcot-Marie-Tooth disease.
|
30394614 |
2019 |
Charcot-Marie-Tooth Disease
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
We present here a consanguineous family with CMT phenotype in which a novel mutation in the GARS (glycyl-tRNA synthetase) gene was identified.
|
31173493 |
2019 |
Charcot-Marie-Tooth Disease
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
HDAC6 is a therapeutic target in mutant GARS-induced Charcot-Marie-Tooth disease.
|
29415205 |
2018 |
Charcot-Marie-Tooth Disease
|
0.300 |
Biomarker
|
disease |
BEFREE |
We conclude that defective sensory motor connectivity in spinal muscular atrophy results from perturbations in a UBA1/GARS pathway that modulates sensory neuron fate, thereby highlighting significant molecular and phenotypic overlap between spinal muscular atrophy and Charcot-Marie-Tooth disease.
|
30239612 |
2018 |
Charcot-Marie-Tooth Disease
|
0.300 |
Biomarker
|
disease |
BEFREE |
Aberrant GlyRS-HDAC6 interaction linked to axonal transport deficits in Charcot-Marie-Tooth neuropathy.
|
29520015 |
2018 |
Charcot-Marie-Tooth Disease
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Six novel CMT-associated gene mutations including BSCL2 (c.461C>T), LITAF (c.32C>G), MFN2 (c.497C>T), GARS (c.794C>T), NEFL (c.280C>T), and MPZ (c.440T>C) were discovered.
|
27862672 |
2017 |
Charcot-Marie-Tooth Disease
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
GARS variants have been associated with dominant Charcot-Marie-Tooth disease but have not been convincingly implicated in recessive phenotypes.
|
28675565 |
2017 |
Charcot-Marie-Tooth Disease
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
While there is strong genetic evidence linking GARS mutations to CMT disease, the molecular pathology underlying the neuromuscular and sensory phenotypes is still not fully understood.
|
27008886 |
2016 |
Charcot-Marie-Tooth Disease
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Dominant mutations in the gene GARS, encoding the ubiquitous enzyme, glycyl-tRNA synthetase (GlyRS), cause peripheral nerve degeneration and lead to CMT disease type 2D.
|
25972375 |
2015 |
Charcot-Marie-Tooth Disease
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
GARS mutations are an uncommon cause of CMT in Taiwan.
|
26244500 |
2015 |
Charcot-Marie-Tooth Disease
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Expression of three CMT-mutant GARS proteins induces defects in motor performance and motor and sensory neuron morphology, and shortens lifespan.
|
26138142 |
2015 |
Charcot-Marie-Tooth Disease
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Dominant mutations in GARS cause rare forms of Charcot-Marie-Tooth disease and distal spinal muscular atrophy.
|
24669931 |
2014 |
Charcot-Marie-Tooth Disease
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
The CMT-causing mutations in tyrosyl- and glycyl-tRNA synthetases (YARS and GARS, respectively) alter the activity of the proteins in a range of ways (some mutations do not impact charging function, while others abrogate it), making a loss of function in tRNA charging unlikely to be the cause of disease pathology.
|
24807208 |
2014 |
Charcot-Marie-Tooth Disease
|
0.300 |
Biomarker
|
disease |
MGD |
Charcot-Marie-Tooth-linked mutant GARS is toxic to peripheral neurons independent of wild-type GARS levels.
|
22144914 |
2011 |
Charcot-Marie-Tooth Disease
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Charcot-Marie-Tooth-linked mutant GARS is toxic to peripheral neurons independent of wild-type GARS levels.
|
22144914 |
2011 |
Charcot-Marie-Tooth Disease
|
0.300 |
Biomarker
|
disease |
BEFREE |
Additional result showed that a helix-turn-helix WHEP domain that was appended to GlyRS in metazoans can regulate the neomorphic structural change, and that the gain of function of the CMT mutants might be due to the loss of function of the WHEP domain as a regulator.
|
21737751 |
2011 |
Charcot-Marie-Tooth Disease
|
0.300 |
Biomarker
|
disease |
MGD |
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.
|
19470612 |
2009 |
Charcot-Marie-Tooth Disease
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
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.
|
19470612 |
2009 |
Charcot-Marie-Tooth Disease
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
The GARS gene is rarely mutated in Japanese patients with Charcot-Marie-Tooth neuropathy.
|
19329989 |
2009 |
Charcot-Marie-Tooth Disease
|
0.300 |
Biomarker
|
disease |
BEFREE |
Distal hereditary motor neuropathy type V (dHMN-V) and Charcot-Marie-Tooth syndrome (CMT) type 2 presenting with predominant hand involvement, also known as CMT2D and Silver syndrome (SS) are rare phenotypically overlapping diseases which can be caused by mutations in the Berardinelli-Seip Congenital Lipodystrophy 2 (BSCL2) and in the glycyl-tRNA synthetase encoding (GARS) genes.
|
17663003 |
2007 |
Charcot-Marie-Tooth Disease
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Here we report the structure of wild type and a CMT-causing mutant (G526R) of homodimeric human GlyRS.
|
17545306 |
2007 |
Charcot-Marie-Tooth Disease
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
Here, mapping mutations onto the recently determined crystal structure of human GlyRS showed them within a band encompassing both sides of the dimer interface, with two CMT-causing mutations being at sites that are complementary partners of a "kissing" contact across the dimer interface.
|
17595294 |
2007 |
Charcot-Marie-Tooth Disease
|
0.300 |
GeneticVariation
|
disease |
BEFREE |
An active dominant mutation of glycyl-tRNA synthetase causes neuropathy in a Charcot-Marie-Tooth 2D mouse model.
|
16982418 |
2006 |
Charcot-Marie-Tooth Disease
|
0.300 |
Biomarker
|
disease |
MGD |
An active dominant mutation of glycyl-tRNA synthetase causes neuropathy in a Charcot-Marie-Tooth 2D mouse model.
|
16982418 |
2006 |