Inactivating Mutations in MFSD2A, Required for Omega-3 Fatty Acid Transport in Brain, Cause a Lethal Microcephaly Syndrome

Docosahexanoic acid (DHA) is the most abundant omega-3 fatty acid in brain, and although considered essential, deficiency has not been linked to disease(1,2). Despite the large mass of DHA in phospholipids, the brain does not synthesize it. DHA is imported across the blood-brain barrier (BBB) throug...

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Udgivet i:Nat Genet
Main Authors: Guemez-Gamboa, Alicia, Nguyen, Long N., Yang, Hongbo, Zaki, Maha S., Kara, Majdi, Ben-Omran, Tawfeg, Akizu, Naiara, Rosti, Rasim Ozgur, Rosti, Basak, Scott, Eric, Schroth, Jana, Copeland, Brett, Vaux, Keith K., Cazenave-Gassiot, Amaury, Quek, Debra Q.Y., Wong, Bernice H., Tan, Bryan C., Wenk, Markus R., Gunel, Murat, Gabriel, Stacey, Chi, Neil C., Silver, David L., Gleeson, Joseph G.
Format: Artigo
Sprog:Inglês
Udgivet: 2015
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4547531/
https://ncbi.nlm.nih.gov/pubmed/26005868
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ng.3311
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