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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 microRNAs...

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Principais autores: Mylène Hervé, El Chérif Ibrahim
Format: Artigo
Sprog:Inglês
Udgivet: The Company of Biologists 2016-08-01
Serier:Disease Models & Mechanisms
Fag:
Familial dysautonomia
MicroRNA
Stem cell
NOVA1
IKAP
ELP1
Online adgang:http://dmm.biologists.org/content/9/8/899
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