Crystal structure of human wildtype and S581L-mutant glycyl-tRNA synthetase, an enzyme underlying distal spinal muscular atrophy (Q24307723)

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31 December 2019

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17544401%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

main subject

crystal structure

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spinal muscular atrophy

1 reference

inferred from title

Glycyl-tRNA synthetase 1

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protein dimerization activity

GOA release 2020-03-11

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GOA release 2020-03-11

muscular atrophy

1 reference

Distal hereditary motor neuropathies

inferred from title

1 reference

1

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31 December 2019

Jingshan Ren

2

1 reference

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31 December 2019

Louise E Bird

4

1 reference

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31 December 2019

Kevin Talbot

5

1 reference

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31 December 2019

author name string

Paul A James

3

1 reference

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31 December 2019

David K Stammers

6

1 reference

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31 December 2019

language of work or name

English

0 references

publication date

29 May 2007

1 reference

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31 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17544401%20AND%20SRC:MED&resulttype=core&format=json

31 December 2019

volume

581

1 reference

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31 December 2019

issue

16

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31 December 2019

page(s)

2959-2964

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Glycyl-tRNA synthetase from Thermus thermophilus--wide structural divergence with other prokaryotic glycyl-tRNA synthetases and functional inter-relation with prokaryotic and eukaryotic glycylation systems

31 December 2019

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Autosomal dominant Charcot-Marie-Tooth axonal neuropathy mapped on chromosome 7p (CMT2D).

21 January 2018

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

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Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations

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

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

21 January 2018

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

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

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Editing-defective tRNA synthetase causes protein misfolding and neurodegeneration

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A procedure for setting up high-throughput nanolitre crystallization experiments. Crystallization workflow for initial screening, automated storage, imaging and optimization

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Crystallography & NMR System: A New Software Suite for Macromolecular Structure Determination

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Interaction between human tRNA synthetases involves repeated sequence elements

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Partition of tRNA synthetases into two classes based on mutually exclusive sets of sequence motifs

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SCOP database in 2004: refinements integrate structure and sequence family data

21 January 2018

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Crystal structure and deletion analysis show that the accessory subunit of mammalian DNA polymerase gamma, Pol gamma B, functions as a homodimer

21 January 2018

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The structure of threonyl-tRNA synthetase-tRNA(Thr) complex enlightens its repressor activity and reveals an essential zinc ion in the active site

21 January 2018

1 reference

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Glycyl-tRNA synthetase uses a negatively charged pit for specific recognition and activation of glycine

21 January 2018

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Crystallization and preliminary X-ray analysis of a native human tRNA synthetase whose allelic variants are associated with Charcot-Marie-Tooth disease

21 January 2018

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3'-Azido-3'-deoxythymidine drug resistance mutations in HIV-1 reverse transcriptase can induce long range conformational changes

21 January 2018

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Structural insights into the evolution of an antibody combining site

21 January 2018

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Crystal structure of a eukaryote/archaeon-like protyl-tRNA synthetase and its complex with tRNAPro(CGG)

21 January 2018

1 reference

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Thermodynamic characterization of the binding of nucleotides to glycyl-tRNA synthetase

21 January 2018

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Long-range intramolecular signaling in a tRNA synthetase complex revealed by pre-steady-state kinetics

21 January 2018

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Glycyl-tRNA synthetase from baker's yeast. Interconversion between active and inactive forms of the enzyme.

21 January 2018

1 reference

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Mapping of a distal form of spinal muscular atrophy with upper limb predominance to chromosome 7p

21 January 2018

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Confirmation of a second locus for CMT2 and evidence for additional genetic heterogeneity

21 January 2018

1 reference

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7 January 2021

inferred from DOI database lookup

Autosomal dominant distal spinal muscular atrophy type V (dSMA-V) and Charcot-Marie-Tooth disease type 2D (CMT2D) segregate within a single large kindred and map to a refined region on chromosome 7p15

1 reference

https://api.crossref.org/works/10.1016%2FJ.FEBSLET.2007.05.046

7 January 2021