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Plexin-semaphorin signaling modifies neuromuscular defects in a drosophila model of peripheral neuropathy

Abstract:

Dominant mutations in GARS, encoding the ubiquitous enzyme glycyl-tRNA synthetase (GlyRS), cause peripheral nerve degeneration and Charcot-Marie-Tooth disease type 2D (CMT2D). This genetic disorder exemplifies a recurring paradigm in neurodegeneration, in which mutations in essential genes cause selective degeneration of the nervous system. Recent evidence suggests that the mechanism underlying CMT2D involves extracellular neomorphic binding of mutant GlyRS to neuronally-expressed proteins. C...

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Publication status:
Published
Peer review status:
Peer reviewed
Version:
Publisher's version

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Publisher copy:
10.3389/fnmol.2018.00055

Authors


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Institution:
University of Oxford
Division:
MPLS Division
Department:
Physiology Anatomy and Genetics
Sleigh, JN More by this author
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Institution:
University of Oxford
Division:
Medical Sciences Division
Department:
Clinical Neurosciences
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Funding agency for:
Sleigh, JN
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Publisher:
Frontiers Media Publisher's website
Journal:
Frontiers in Molecular Neuroscience Journal website
Volume:
11
Issue:
55
Pages:
1-11
Publication date:
2018-02-22
Acceptance date:
2018-02-08
DOI:
ISSN:
1662-5099
Pubs id:
pubs:827807
URN:
uri:07e1d521-23f2-4cb4-a2dd-0876ccc6442e
UUID:
uuid:07e1d521-23f2-4cb4-a2dd-0876ccc6442e
Local pid:
pubs:827807
Paper number:
55

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