A genetic model of CEDNIK syndrome in zebrafish highlights the role of the SNARE protein Snap29 in neuromotor and epidermal development

Homozygous mutations in SNAP29, encoding a SNARE protein mainly involved in membrane fusion, cause CEDNIK (Cerebral Dysgenesis, Neuropathy, Ichthyosis and Keratoderma), a rare congenital neurocutaneous syndrome associated with short life expectancy, whose pathogenesis is unclear. Here, we report the...

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Udgivet i:Sci Rep
Main Authors: Mastrodonato, Valeria, Beznoussenko, Galina, Mironov, Alexandre, Ferrari, Laura, Deflorian, Gianluca, Vaccari, Thomas
Format: Artigo
Sprog:Inglês
Udgivet: Nature Publishing Group UK 2019
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6361908/
https://ncbi.nlm.nih.gov/pubmed/30718891
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-018-37780-4
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