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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Detaylı Bibliyografya
Yayımlandı:Nat Genet
Asıl Yazarlar: 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.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 2015
Konular:
Article
Online Erişim: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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