Snap29 mutant mice recapitulate neurological and ophthalmological abnormalities associated with 22q11 and CEDNIK syndrome

Synaptosomal-associated protein 29 (SNAP29) encodes a member of the SNARE family of proteins implicated in numerous intracellular protein trafficking pathways. SNAP29 maps to the 22q11.2 region and is deleted in 90% of patients with 22q11.2 deletion syndrome (22q11.2DS). Moreover, bi-allelic SNAP29...

Descripción completa

Detalles Bibliográficos
Autores principales: Keser, Vafa, Lachance, Jean-François Boisclair, Alam, Sabrina Shameen, Lim, Youngshin, Scarlata, Eleonora, Kaur, Apinder, Zhang, Tian Fang, Lv, Shasha, Lachapelle, Pierre, O’Flaherty, Cristian, Golden, Jeffrey A., Jerome-Majewska, Loydie A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6789041/
https://www.ncbi.nlm.nih.gov/pubmed/31633066
http://dx.doi.org/10.1038/s42003-019-0601-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6789041/
https://www.ncbi.nlm.nih.gov/pubmed/31633066
http://dx.doi.org/10.1038/s42003-019-0601-5

Ejemplares similares