Rare Variant Burden Analysis within Enhancers Identifies CAV1 as an ALS Risk Gene

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Amyotrophic lateral sclerosis (ALS) is an incurable neurodegenerative disease. CAV1 and CAV2 organize membrane lipid rafts (MLRs) important for cell signaling and neuronal survival, and overexpression of CAV1 ameliorates ALS phenotypes in vivo. Genome-wide association studies localize a large propor...

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Detalles Bibliográficos
Autores principales: Cooper-Knock, Johnathan, Zhang, Sai, Kenna, Kevin P., Moll, Tobias, Franklin, John P., Allen, Samantha, Nezhad, Helia Ghahremani, Iacoangeli, Alfredo, Yacovzada, Nancy Y., Eitan, Chen, Hornstein, Eran, Ehilak, Eran, Celadova, Petra, Bose, Daniel, Farhan, Sali, Fishilevich, Simon, Lancet, Doron, Morrison, Karen E., Shaw, Christopher E., Al-Chalabi, Ammar, Veldink, Jan H., Kirby, Janine, Snyder, Michael P., Shaw, Pamela J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cell Press 2020
Materias:
Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7710676/
https://www.ncbi.nlm.nih.gov/pubmed/33264630
http://dx.doi.org/10.1016/j.celrep.2020.108456

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