MeCP2 isoform e1 mutant mice recapitulate motor and metabolic phenotypes of Rett syndrome

Mutations in the X-linked gene MECP2 cause the majority of Rett syndrome (RTT) cases. Two differentially spliced isoforms of exons 1 and 2 (MeCP2-e1 and MeCP2-e2) contribute to the diverse functions of MeCP2, but only mutations in exon 1, not exon 2, are observed in RTT. We previously described an i...

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Dades bibliogràfiques
Publicat a:Hum Mol Genet
Autors principals: Vogel Ciernia, Annie, Yasui, Dag H, Pride, Michael C, Durbin-Johnson, Blythe, Noronha, Adriana B, Chang, Alene, Knotts, Trina A, Rutkowsky, Jennifer R, Ramsey, Jon J, Crawley, Jacqueline N, LaSalle, Janine M
Format: Artigo
Idioma:Inglês
Publicat: Oxford University Press 2018
Matèries:
General Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6240741/
https://ncbi.nlm.nih.gov/pubmed/30137367
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddy301
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