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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Detalhes bibliográficos
Autor principal: Barresi, Sabina (author)
Outros Autores: Tomaselli, Sara (author), Athanasiadis, Alekos (author), Galeano, Federica (author), Locatelli, Franco (author), Bertini, Enrico (author), Zanni, Ginevra (author), Gallo, Angela (author)
Formato: article
Idioma:eng
Publicado em: 2015
Assuntos:
RNA editing
Brain Development
Texto completo:http://hdl.handle.net/10400.7/318
País:Portugal
Oai:oai:arca.igc.gulbenkian.pt:10400.7/318

Texto Completo

http://hdl.handle.net/10400.7/318

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