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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Detalles Bibliográficos
Autores principales: Mastrodonato, Valeria, Beznoussenko, Galina, Mironov, Alexandre, Ferrari, Laura, Deflorian, Gianluca, Vaccari, Thomas
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6361908/
https://www.ncbi.nlm.nih.gov/pubmed/30718891
http://dx.doi.org/10.1038/s41598-018-37780-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6361908/
https://www.ncbi.nlm.nih.gov/pubmed/30718891
http://dx.doi.org/10.1038/s41598-018-37780-4

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