Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome

Nature Genetics

Volumn 47, Issue 7, 2015, Pages 809-813

  Guemez Gamboa, Alicia ^a,b   Nguyen, Long N ^c   Yang, Hongbo ^d   Zaki, Maha S ^e   Kara, Majdi ^f   Ben Omran, Tawfeg ^g   Akizu, Naiara ^a,b   Rosti, Rasim Ozgur ^a,b   Rosti, Basak ^a,b   Scott, Eric ^a,b   Schroth, Jana ^a,b   Copeland, Brett ^a,b   Vaux, Keith K ^a,b   Cazenave Gassiot, Amaury ^h   Quek, Debra Q Y ^b   Wong, Bernice H ^c   Tan, Bryan C ^c   Wenk, Markus R ^h   Gunel, Murat ⁱ   Gabriel, Stacey ^j   Chi, Neil C ^d   Silver, David L ^c   Gleeson, Joseph G ^a,b   more..

^a UNIVERSITY OF CALIFORNIA   (United States)

^b HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^c DUKE NUS MEDICAL SCHOOL   (Singapore)

^d UNIVERSITY OF CALIFORNIA SAN DIEGO   (United States)

^e NATIONAL RESEARCH CENTRE   (Egypt)

^f Tripoli Children's Hospital   (Libyan Arab Jamahiriya)

^g HAMAD MEDICAL CORPORATION   (Qatar)

^h NATIONAL UNIVERSITY OF SINGAPORE   (Singapore)

ⁱ YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^j BROAD INSTITUTE OF MIT AND HARVARD   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CARRIER PROTEIN; MESSENGER RNA; MFSD2A PROTEIN; OMEGA 3 FATTY ACID; UNCLASSIFIED DRUG; MFSD2A PROTEIN, HUMAN; TUMOR SUPPRESSOR PROTEIN;

AMINO ACID SEQUENCE; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; BINDING SITE; BLOOD BRAIN BARRIER; BRAIN DEVELOPMENT; BRAIN FUNCTION; BRAIN GROWTH; CELL MEMBRANE; CHROMOSOME 1; CONTROLLED STUDY; EMBRYO; FUNCTIONAL DISEASE; GENE INACTIVATION; GENE MUTATION; GENE SILENCING; HUMAN; HYDROGEN BOND; IMMUNOBLOTTING; IMMUNOFLUORESCENCE; IMMUNOLOCALIZATION; IN SITU HYBRIDIZATION; IN VIVO STUDY; MICROCEPHALY; MOUSE; NERVE FIBER GROWTH; NONHUMAN; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PINOCYTOSIS; PRIORITY JOURNAL; PROTEIN EXPRESSION; TRANSCYTOSIS; ZEBRA FISH; ZYGOTE; ADOLESCENT; ANIMAL; BRAIN; CASE CONTROL STUDY; CHILD; CONSANGUINITY; FEMALE; GENETIC ASSOCIATION STUDY; GENETICS; HEK293 CELL LINE; INFANT; KNOCKOUT MOUSE; LETHAL GENE; MALE; METABOLISM; MISSENSE MUTATION; PRESCHOOL CHILD; SYNDROME; TRANSPORT AT THE CELLULAR LEVEL;

DANIO RERIO;

ADOLESCENT; ANIMALS; BIOLOGICAL TRANSPORT; BLOOD-BRAIN BARRIER; BRAIN; CASE-CONTROL STUDIES; CHILD; CHILD, PRESCHOOL; CONSANGUINITY; FATTY ACIDS, OMEGA-3; FEMALE; GENES, LETHAL; GENETIC ASSOCIATION STUDIES; HEK293 CELLS; HUMANS; INFANT; MALE; MICE, KNOCKOUT; MICROCEPHALY; MUTATION, MISSENSE; SYNDROME; TUMOR SUPPRESSOR PROTEINS; ZEBRAFISH;

EID: 84933040235     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.3311     Document Type: Article

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