Homozygous mutation in MFSD2A, encoding a lysolipid transporter for docosahexanoic acid, is associated with microcephaly and hypomyelination.

Harel, Tamar; Quek, Debra Q Y; Wong, Bernice H; Cazenave-Gassiot, Amaury; Wenk, Markus R; Fan, Hao; Berger, Itai; Shmueli, Dorit; Shaag, Avraham; Silver, David L; Elpeleg, Orly; Edvardson, Shimon

Harel, Tamar; Quek, Debra Q Y; Wong, Bernice H; Cazenave-Gassiot, Amaury; Wenk, Markus R; Fan, Hao; Berger, Itai; Shmueli, Dorit; Shaag, Avraham; Silver, David L; Elpeleg, Orly; Edvardson, Shimon.

Afiliação

Harel T; Department of Genetic and Metabolic Diseases, Hadassah-Hebrew University Medical Center, POB 12000, 9112001, Jerusalem, Israel. tamarhe@hadassah.org.il.
Quek DQY; Signature Research Program in Cardiovascular and Metabolic Disorders, Duke-NUS Medical School, Singapore, 169857, Singapore.
Wong BH; Signature Research Program in Cardiovascular and Metabolic Disorders, Duke-NUS Medical School, Singapore, 169857, Singapore.
Cazenave-Gassiot A; Department of Biochemistry, National University of Singapore, 8 Medical Drive, Block MD 7, Singapore, 117597, Singapore.
Wenk MR; Singapore Lipidomics Incubator (SLING), Life Sciences Institute, National University of Singapore, 28 Medical Drive, Singapore, 117456, Singapore.
Fan H; Department of Biochemistry, National University of Singapore, 8 Medical Drive, Block MD 7, Singapore, 117597, Singapore.
Berger I; Singapore Lipidomics Incubator (SLING), Life Sciences Institute, National University of Singapore, 28 Medical Drive, Singapore, 117456, Singapore.
Shmueli D; Bioinformatics Institute (BII), Agency for Science, Technology and Research (A*STAR), 30 Biopolis St., Matrix No. 07-01, Singapore, 138671, Singapore.
Shaag A; Department of Biological Sciences, National University of Singapore, 14 Science Drive 4, Singapore, 117543, Singapore.
Silver DL; Centre for Computational Biology, DUKE-NUS Medical School, 8 College Road, Singapore, 169857, Singapore.
Elpeleg O; Pediatric Neurology Unit, Hadassah-Hebrew University Medical Center, 9112001, Jerusalem, Israel.
Edvardson S; Child Developmental Center, Clalit Health Services, Jerusalem, Israel.

Neurogenetics ; 19(4): 227-235, 2018 12.

Article em En | MEDLINE | ID: mdl-30043326

Assuntos

Doenças Desmielinizantes/genética; Ácidos Docosa-Hexaenoicos/metabolismo; Microcefalia/genética; Mutação de Sentido Incorreto; Proteínas Supressoras de Tumor/genética; Substituição de Aminoácidos; Animais; Transporte Biológico/genética; Barreira Hematoencefálica/metabolismo; Criança; Pré-Escolar; Doenças Desmielinizantes/metabolismo; Deficiências do Desenvolvimento/genética; Feminino; Células HEK293; Homozigoto; Humanos; Metabolismo dos Lipídeos/genética; Lisofosfatidilcolinas/metabolismo; Masculino; Camundongos; Camundongos Knockout; Microcefalia/metabolismo; Modelos Moleculares; Bainha de Mielina/metabolismo; Linhagem; Irmãos; Simportadores; Proteínas Supressoras de Tumor/química; Proteínas Supressoras de Tumor/metabolismo

Palavras-chave

Blood-brain barrier; Docosahexanoic acid; Lysolipid transporters; Lysophosphatidylcholine; MFSD2A; Microcephaly

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Ácidos Docosa-Hexaenoicos / Doenças Desmielinizantes / Mutação de Sentido Incorreto / Proteínas Supressoras de Tumor / Microcefalia Idioma: En Ano de publicação: 2018 Tipo de documento: Article

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