GJB4 variants linked to skin disease exhibit a trafficking deficiency en route to gap junction formation that can be restored by co-expression of select connexins

Epidermal keratinocytes are enriched with at least nine connexins that are key regulators of epidermal homeostasis. The role of Cx30.3 in keratinocytes and epidermal health became evident when fourteen autosomal dominant mutations in the Cx30.3-encoding GJB4 gene were linked to a rare and incurable...

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Detalles Bibliográficos
Autores principales: Lucaciu, Sergiu A., Figliuzzi, Rhett, Neumann, Ruth, Nazarali, Samina, Del Sordo, Luigi, Leighton, Stephanie E., Hauser, Alexandra, Shao, Qing, Johnston, Danielle, Bai, Donglin, Laird, Dale W.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Cell and Developmental Biology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9968944/
https://www.ncbi.nlm.nih.gov/pubmed/36861039
http://dx.doi.org/10.3389/fcell.2023.1073805

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9968944/
https://www.ncbi.nlm.nih.gov/pubmed/36861039
http://dx.doi.org/10.3389/fcell.2023.1073805

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