Combinatorial treatment increases IKAP levels in human cells generated from Familial Dysautonomia patients

Familial Dysautonomia (FD) is an autosomal recessive congenital neuropathy that results from a point mutation at the 5’ splice site of intron 20 in the IKBKAP gene. This mutation decreases production of the IKAP protein, and treatments that increase the level of the full-length IKBKAP transcript are...

Descripción completa

Detalles Bibliográficos
Autores principales: Yannai, Sivan, Zonszain, Jonathan, Donyo, Maya, Ast, Gil
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2019
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6424424/
https://www.ncbi.nlm.nih.gov/pubmed/30889183
http://dx.doi.org/10.1371/journal.pone.0211602

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6424424/
https://www.ncbi.nlm.nih.gov/pubmed/30889183
http://dx.doi.org/10.1371/journal.pone.0211602

Ejemplares similares