ArticleRare diseases (Austin, Tex.)2013
WNK1/HSN2 isoform and the regulation of KCC2 activity.
Article in Rare diseases (Austin, Tex.), 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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2 citing papers in PubMed, 2 citations in OpenAlex.
- Unanticipated domain requirements for Drosophila Wnk kinase in vivo.PLoS genetics · 2023Article
- WNK Kinases in Development and Disease.Current topics in developmental biology · 2017Review
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1 author at 1 institution in 2 countries.
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Abstract
Hereditary sensory and autonomic neuropathy type 2 is a rare autosomal recessive pathology presenting with early onset peripheral sensory defects. It arises from mutations affecting a specific isoform of the WNK1 kinase (with-no-lysine protein kinase 1) termed WNK1/HSN2. The role of WNK1 in the nervous system is not well understood. In our recent paper, we examined the effect of a pathological loss-of-function of the Wnk1/Hsn2 isoform on the development of the peripheral nervous system of the zebrafish embryo. Upon Wnk1/Hsn2 silencing using antisense morpholino oligonucleotides, we observed defects in the development of the sensory peripheral lateral line (PLL). Phenotypical embryos were also found to overexpress RNA for potassium-chloride cotransporter 2 (KCC2), a downstream target of WNK1 phosphorylation. Injection of recombinant mRNA for active KCC2, but not for inactive mutant KCC2-C568A, replicated the PLL defects observed in wnk1/hsn2 deficient animals, suggesting an essential role for WNK1/HSN2 in KCC2 regulation.
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