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 (Q24651733)

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Language	Label	Description	Also known as
English	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	scientific article

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scholarly article

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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 (English)

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Glycyl-tRNA synthetase

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GOA release 2020-03-11

peripheral neuropathy

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based on heuristic

inferred from title

Elizabeth M. C. Fisher

21

object named as

Elizabeth M C Fisher

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Virginie Bros-Facer

2

object named as

Virginie Bros-Facer

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author name string

Francesca Achilli

1

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Hazel P Williams

3

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Gareth T Banks

4

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Mona AlQatari

5

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Ruth Chia

6

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Valter Tucci

7

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Michael Groves

8

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Carole D Nickols

9

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Kevin L Seburn

10

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Rachel Kendall

11

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Muhammed Z Cader

12

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Kevin Talbot

13

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Jan van Minnen

14

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Robert W Burgess

15

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Sebastian Brandner

16

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Joanne E Martin

17

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Martin Koltzenburg

18

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Linda Greensmith

19

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Patrick M Nolan

20

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language of work or name

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publication date

2009

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Disease Models & Mechanisms

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2

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7-8

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359-73

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Long-range structural effects of a Charcot-Marie-Tooth disease-causing mutation in human glycyl-tRNA synthetase

1 reference

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7 April 2017

Crystal structure of human wildtype and S581L-mutant glycyl-tRNA synthetase, an enzyme underlying distal spinal muscular atrophy

1 reference

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7 April 2017

Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2707104

7 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2707104

7 April 2017

Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V.

1 reference

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7 April 2017

Cloning, sequencing and bacterial expression of human glycine tRNA synthetase

1 reference

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7 April 2017

Structure-function relationship of CAP-Gly domains

1 reference

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7 April 2017

Crystal structure of the cytoskeleton-associated protein glycine-rich (CAP-Gly) domain

1 reference

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7 April 2017

Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy

1 reference

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7 April 2017

Editing-defective tRNA synthetase causes protein misfolding and neurodegeneration

1 reference

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7 April 2017

A missense mutation in Tbce causes progressive motor neuronopathy in mice

1 reference

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7 April 2017

Insertion of Inhbb into the Inhba locus rescues the Inhba-null phenotype and reveals new activin functions

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7 April 2017

Dissection of a QTL hotspot on mouse distal chromosome 1 that modulates neurobehavioral phenotypes and gene expression

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28 September 2017

Aminoacyl tRNA synthetases and their connections to disease

1 reference

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28 September 2017

TDP-43 is a culprit in human neurodegeneration, and not just an innocent bystander

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28 September 2017

WHEP domains direct noncanonical function of glutamyl-Prolyl tRNA synthetase in translational control of gene expression

1 reference

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28 September 2017

Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia

1 reference

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28 September 2017

Local translation and directional steering in axons

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28 September 2017

Charcot-Marie-Tooth disease-associated mutant tRNA synthetases linked to altered dimer interface and neurite distribution defect.

1 reference

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28 September 2017

Severe childhood SMA and axonal CMT due to anticodon binding domain mutations in the GARS gene

1 reference

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28 September 2017

An active dominant mutation of glycyl-tRNA synthetase causes neuropathy in a Charcot-Marie-Tooth 2D mouse model

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2707104

28 September 2017

The G526R glycyl-tRNA synthetase gene mutation in distal hereditary motor neuropathy type V.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2707104

28 September 2017

Coexistence of CMT-2D and distal SMA-V phenotypes in an Italian family with a GARS gene mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2707104

28 September 2017

Functional expansion of aminoacyl-tRNA synthetases and their interacting factors: new perspectives on housekeepers

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2707104

28 September 2017

Nerve excitability studies: past, present, future?

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28 September 2017

Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations

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28 September 2017

Axonal and presynaptic protein synthesis: new insights into the biology of the neuron

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28 September 2017

SHIRPA, a protocol for behavioral assessment: validation for longitudinal study of neurological dysfunction in mice.

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28 September 2017

A systematic, genome-wide, phenotype-driven mutagenesis programme for gene function studies in the mouse

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28 September 2017

Behavioral and functional analysis of mouse phenotype: SHIRPA, a proposed protocol for comprehensive phenotype assessment

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28 September 2017

Human glycyl-tRNA synthetase. Wide divergence of primary structure from bacterial counterpart and species-specific aminoacylation.

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28 September 2017

Global effects of mistranslation from an editing defect in mammalian cells

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30 May 2018

Glycyl- and alanyl-tRNA synthetases from Bombyx mori. Purification and properties.

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30 May 2018

A rat in vitro model for the measurement of multiple excitability properties of cutaneous axons

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28 November 2018

Cytoplasmic and mitochondrial protein translation in axonal and dendritic terminal arborization

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28 November 2018

KCNQ channels mediate IKs, a slow K+ current regulating excitability in the rat node of Ranvier

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28 November 2018

The effect of peripheral nerve injury on disease progression in the SOD1(G93A) mouse model of amyotrophic lateral sclerosis.

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28 November 2018

Inhibition of calpains, by treatment with leupeptin, improves motoneuron survival and muscle function in models of motoneuron degeneration

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28 November 2018

Mutant dynactin in motor neuron disease.

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28 November 2018

Receptive properties of mouse sensory neurons innervating hairy skin

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28 November 2018

Genetic and clinical aspects of Charcot-Marie-Tooth's disease

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Muscle reinnervation--II. Sprouting, synapse formation and repression

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Not just because it is there: aminoacyl-tRNA synthetases gain control of the cell

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Identifiers

10.1242/DMM.002527

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Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

OpenCitations bibliographic resource ID

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Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PMC publication ID

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Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PubMed publication ID

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Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

ResearchGate publication ID

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