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MicroRNA screening identifies a link between NOVA1 expression and a low level of IKAP in familial dysautonomia

Familial dysautonomia (FD) is a rare neurodegenerative disease caused by a mutation in intron 20 of the IKBKAP gene (c.2204+6T>C), leading to tissue-specific skipping of exon 20 and a decrease in the synthesis of the encoded protein IKAP (also known as ELP1). Small non-coding RNAs known as microR...

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Detalles Bibliográficos
Autores principales: Hervé, Mylène, Ibrahim, El Chérif
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Company of Biologists Ltd 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5007982/
https://www.ncbi.nlm.nih.gov/pubmed/27483351
http://dx.doi.org/10.1242/dmm.025841