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Journal article

KCC3 loss-of-function contributes to Andermann syndrome by inducing activity-dependent neuromuscular junction defects

Abstract:

Loss-of-function mutations in the potassium-chloride cotransporter KCC3 lead to Andermann syndrome, a severe sensorimotor neuropathy characterized by areflexia, amyotrophy and locomotor abnormalities. The molecular events responsible for axonal loss remain poorly understood. Here, we establish that global or neuron-specific KCC3 loss-of-function in mice leads to early neuromuscular junction (NMJ) abnormalities and muscular atrophy that are consistent with the pre-synaptic neurotransmission de...

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Publication status:
Published
Peer review status:
Peer reviewed
Version:
Accepted manuscript

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Publisher copy:
10.1016/j.nbd.2017.06.013

Authors


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Department:
Wadham College
Bernard, V More by this author
Soulard, C More by this author
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Funding agency for:
Bowerman, M
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Publisher:
Elsevier Publisher's website
Journal:
Neurobiology of Disease Journal website
Volume:
106
Pages:
35-48
Publication date:
2017-06-21
Acceptance date:
2017-06-20
DOI:
EISSN:
1095-953X
ISSN:
0969-9961
Pubs id:
pubs:703157
URN:
uri:2abd0a2f-f0c6-41b0-aeb9-8880ebfd9c85
UUID:
uuid:2abd0a2f-f0c6-41b0-aeb9-8880ebfd9c85
Local pid:
pubs:703157

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