Novel mutations in malonyl-CoA-acyl carrier protein transacylase provoke autosomal recessive optic neuropathy.

Li, Huiping; Yuan, Shiqin; Minegishi, Yuriko; Suga, Akiko; Yoshitake, Kazutoshi; Sheng, Xunlun; Ye, Jianping; Smith, Stuart; Bunkoczi, Gabor; Yamamoto, Megumi; Iwata, Takeshi

Li, Huiping; Yuan, Shiqin; Minegishi, Yuriko; Suga, Akiko; Yoshitake, Kazutoshi; Sheng, Xunlun; Ye, Jianping; Smith, Stuart; Bunkoczi, Gabor; Yamamoto, Megumi; Iwata, Takeshi.

Afiliação

Li H; Division of Molecular and Cellular Biology, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, 2-5-1, Higashigaoka, Meguro-ku, Tokyo, 152-8902, Japan.
Yuan S; Ningxia Clinical Research Center of Blinding Eye Disease, Ningxia Eye Hospital, People Hospital of Ningxia Hui Autonomous Region, No. 936, Huang He East Road,Yinchuan, 750001, China.
Minegishi Y; Division of Molecular and Cellular Biology, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, 2-5-1, Higashigaoka, Meguro-ku, Tokyo, 152-8902, Japan.
Suga A; Ningxia Clinical Research Center of Blinding Eye Disease, Ningxia Eye Hospital, People Hospital of Ningxia Hui Autonomous Region, No. 936, Huang He East Road,Yinchuan, 750001, China.
Yoshitake K; Division of Molecular and Cellular Biology, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, 2-5-1, Higashigaoka, Meguro-ku, Tokyo, 152-8902, Japan.
Sheng X; Division of Molecular and Cellular Biology, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, 2-5-1, Higashigaoka, Meguro-ku, Tokyo, 152-8902, Japan.
Ye J; Division of Molecular and Cellular Biology, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, 2-5-1, Higashigaoka, Meguro-ku, Tokyo, 152-8902, Japan.
Smith S; Ningxia Clinical Research Center of Blinding Eye Disease, Ningxia Eye Hospital, People Hospital of Ningxia Hui Autonomous Region, No. 936, Huang He East Road,Yinchuan, 750001, China.
Bunkoczi G; Pennington Biomedical Research Center, Louisiana State University Systems, 6400, Perkin Road, Baton Rouge, LA, 70808, USA.
Yamamoto M; Children's Hospital Oakland Research Institute, 5700, Martin Luther King Jr. Way, Oakland, CA, 94609, USA.
Iwata T; Astex Pharmaceuticals, 436, Cambridge Science Park, Cambridge, CB4 0QA, UK.

Hum Mol Genet ; 29(3): 444-458, 2020 02 01.

Article em En | MEDLINE | ID: mdl-31915829

Assuntos

Proteína de Transporte de Acila S-Maloniltransferase/genética; Genes Recessivos; Mitocôndrias/patologia; Doenças do Nervo Óptico/patologia; Nervo Óptico/patologia; Células Ganglionares da Retina/patologia; Proteína de Transporte de Acila S-Maloniltransferase/química; Proteína de Transporte de Acila S-Maloniltransferase/metabolismo; Sequência de Aminoácidos; Animais; Criança; Feminino; Humanos; Masculino; Camundongos; Camundongos Knockout; Mitocôndrias/metabolismo; Mutação; Nervo Óptico/metabolismo; Doenças do Nervo Óptico/etiologia; Doenças do Nervo Óptico/metabolismo; Linhagem; Conformação Proteica; Células Ganglionares da Retina/metabolismo; Homologia de Sequência; Sequenciamento do Exoma

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Nervo Óptico / Células Ganglionares da Retina / Doenças do Nervo Óptico / Proteína de Transporte de Acila S-Maloniltransferase / Genes Recessivos / Mitocôndrias Tipo de estudo: Etiology_studies Limite: Animals / Child / Female / Humans / Male Idioma: En Ano de publicação: 2020 Tipo de documento: Article

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