<i>O</i>-GlcNAc transferase missense mutations linked to X-linked intellectual disability deregulate genes involved in cell fate determination and signaling.

Selvan, Nithya; George, Stephan; Serajee, Fatema J; Shaw, Marie; Hobson, Lynne; Kalscheuer, Vera; Prasad, Nripesh; Levy, Shawn E; Taylor, Juliet; Aftimos, Salim; Schwartz, Charles E; Huq, Ahm M; Gecz, Jozef; Wells, Lance

O-GlcNAc transferase missense mutations linked to X-linked intellectual disability deregulate genes involved in cell fate determination and signaling.

Selvan, Nithya; George, Stephan; Serajee, Fatema J; Shaw, Marie; Hobson, Lynne; Kalscheuer, Vera; Prasad, Nripesh; Levy, Shawn E; Taylor, Juliet; Aftimos, Salim; Schwartz, Charles E; Huq, Ahm M; Gecz, Jozef; Wells, Lance.

Afiliação

Selvan N; From the Department of Biochemistry and Molecular Biology, Complex Carbohydrate Research Center, University of Georgia, Athens, Georgia 30602.
George S; From the Department of Biochemistry and Molecular Biology, Complex Carbohydrate Research Center, University of Georgia, Athens, Georgia 30602.
Serajee FJ; the Departments of Pediatrics and of Neurology, Wayne State University, Detroit, Michigan 48201.
Shaw M; the Adelaide Medical School, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide South Australia 5006, Australia.
Hobson L; the Women's and Children's Hospital, North Adelaide, South Australia 5006, Australia.
Kalscheuer V; the Research Group Development and Disease, Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany.
Prasad N; the Genomic Services Laboratory, HudsonAlpha Institute for Biotechnology, Huntsville, Alabama 35806.
Levy SE; the Genomic Services Laboratory, HudsonAlpha Institute for Biotechnology, Huntsville, Alabama 35806.
Taylor J; the Genetic Health Services New Zealand-Northern Hub, Auckland City Hospital, Auckland 1142, New Zealand.
Aftimos S; the Genetic Health Services New Zealand-Northern Hub, Auckland City Hospital, Auckland 1142, New Zealand.
Schwartz CE; the Greenwood Genetic Center, Greenwood, South Carolina 29646, and.
Huq AM; the Departments of Pediatrics and of Neurology, Wayne State University, Detroit, Michigan 48201.
Gecz J; the Adelaide Medical School, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide South Australia 5006, Australia.
Wells L; the South Australian Health and Medical Research Institute, Adelaide, South Australia 5006, Australia.

J Biol Chem ; 293(27): 10810-10824, 2018 07 06.

Article em En | MEDLINE | ID: mdl-29769320

Assuntos

Linhagem da Célula; Células-Tronco Embrionárias/metabolismo; Genes Ligados ao Cromossomo X; Marcadores Genéticos; Deficiência Intelectual/genética; Mutação de Sentido Incorreto; N-Acetilglucosaminiltransferases/genética; Diferenciação Celular; Criança; Cristalografia por Raios X; Células-Tronco Embrionárias/patologia; Feminino; Perfilação da Expressão Gênica; Regulação da Expressão Gênica no Desenvolvimento; Humanos; Recém-Nascido; Deficiência Intelectual/enzimologia; Deficiência Intelectual/patologia; Masculino; N-Acetilglucosaminiltransferases/química; N-Acetilglucosaminiltransferases/metabolismo; Linhagem; Conformação Proteica; Transdução de Sinais

Palavras-chave

RNA-seq; XLID; enzyme kinetics; genetic disease; glycosyltransferase; O-linked N-acetylglucosamine (O-GlcNAc) transferase (OGT); O-linked N-acetylglucosamine (O-GlcNAc); intellectual disability; post-translational modification; transcriptomics

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Marcadores Genéticos / N-Acetilglucosaminiltransferases / Linhagem da Célula / Mutação de Sentido Incorreto / Genes Ligados ao Cromossomo X / Células-Tronco Embrionárias / Deficiência Intelectual Limite: Child / Female / Humans / Male / Newborn Idioma: En Revista: J Biol Chem Ano de publicação: 2018 Tipo de documento: Article

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