Article
Mice with an isoform-ablating Mecp2 exon 1 mutation recapitulate the neurologic deficits of Rett syndrome.
Human molecular genetics - 1 May 2014
Yasui Dag H, Gonzales Michael L, Aflatooni Justin O, Crary Florence K, Hu Daniel J, Gavino Bryant J, Golub Mari S, Vincent John B, Carolyn Schanen N, Olson Carl O, Rastegar Mojgan, Lasalle Janine M
Abstract excerpt
Mutations in MECP2 cause the neurodevelopmental disorder Rett syndrome (RTT OMIM 312750). Alternative inclusion of MECP2/Mecp2 exon 1 with exons 3 and 4 encodes MeCP2-e1 or MeCP2-e2 protein isoforms with unique amino termini. While most MECP2 mutations are located in exons 3 and 4 thus affecting both isoforms, MECP2 exon 1 mutations but not exon 2 mutations have been identified in RTT patients, suggesting that...
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