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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書誌詳細
出版年:Nat Genet
主要な著者: 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.
フォーマット: Artigo
言語:Inglês
出版事項: 2015
主題:
Article
オンライン･アクセス: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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