Oligophrenin-1 (OPHN1), a Gene Involved in X-Linked Intellectual Disability, Undergoes RNA Editing and Alternative Splicing during Human Brain Development

Oligophrenin-1 (OPHN1) encodes for a Rho-GTPase-activating protein, important for dendritic morphogenesis and synaptic function. Mutations in this gene have been identified in patients with X-linked intellectual disability associated with cerebellar hypoplasia. ADAR enzymes are responsible for A-to-...

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Detalles Bibliográficos
Autores principales: Barresi, Sabina, Tomaselli, Sara, Athanasiadis, Alekos, Galeano, Federica, Locatelli, Franco, Bertini, Enrico, Zanni, Ginevra, Gallo, Angela
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2014
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3956665/
https://www.ncbi.nlm.nih.gov/pubmed/24637888
http://dx.doi.org/10.1371/journal.pone.0091351

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