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Journal article

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.

Abstract:

Mutations in the enzyme glycyl-tRNA synthetase (GARS) cause motor and sensory axon loss in the peripheral nervous system in humans, described clinically as Charcot-Marie-Tooth type 2D or distal spinal muscular atrophy type V. Here, we characterise a new mouse mutant, Gars(C201R), with a point mutation that leads to a non-conservative substitution within GARS. Heterozygous mice with a C3H genetic background have loss of grip strength, decreased motor flexibility and disruption of fine motor co...

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Publication status:
Published

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Publisher copy:
10.1242/dmm.002527

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Journal:
Disease models and mechanisms
Volume:
2
Issue:
7-8
Pages:
359-373
Publication date:
2009-01-01
DOI:
EISSN:
1754-8411
ISSN:
1754-8403
URN:
uuid:f3a825ce-8272-484e-b327-ee700e38bbf9
Source identifiers:
110107
Local pid:
pubs:110107

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