A novel HSD17B10 mutation impairing the activities of the mitochondrial RNase P complex causes X-linked intractable epilepsy and neurodevelopmental regression.

Falk, Marni J; Gai, Xiaowu; Shigematsu, Megumi; Vilardo, Elisa; Takase, Ryuichi; McCormick, Elizabeth; Christian, Thomas; Place, Emily; Pierce, Eric A; Consugar, Mark; Gamper, Howard B; Rossmanith, Walter; Hou, Ya-Ming

Falk, Marni J; Gai, Xiaowu; Shigematsu, Megumi; Vilardo, Elisa; Takase, Ryuichi; McCormick, Elizabeth; Christian, Thomas; Place, Emily; Pierce, Eric A; Consugar, Mark; Gamper, Howard B; Rossmanith, Walter; Hou, Ya-Ming.

Afiliação

Falk MJ; a Division of Human Genetics , Department of Pediatrics, The Children's Hospital of Philadelphia , Philadelphia , PA , USA.
Gai X; b Department of Pediatrics , University of Pennsylvania Perelman School of Medicine , Philadelphia , PA , USA.
Shigematsu M; c Center for Personalized Medicine, Children's Hospital Los Angeles , Los Angeles , CA , USA.
Vilardo E; d Department of Biochemistry and Molecular Biology , Thomas Jefferson University , Philadelphia , PA , USA.
Takase R; e Center for Anatomy and Cell Biology, Medical University of Vienna , Vienna , Austria.
McCormick E; d Department of Biochemistry and Molecular Biology , Thomas Jefferson University , Philadelphia , PA , USA.
Christian T; a Division of Human Genetics , Department of Pediatrics, The Children's Hospital of Philadelphia , Philadelphia , PA , USA.
Place E; d Department of Biochemistry and Molecular Biology , Thomas Jefferson University , Philadelphia , PA , USA.
Pierce EA; a Division of Human Genetics , Department of Pediatrics, The Children's Hospital of Philadelphia , Philadelphia , PA , USA.
Consugar M; f Massachusetts Eye and Ear Infirmary, Harvard Medical School , Boston , MA , USA.
Gamper HB; f Massachusetts Eye and Ear Infirmary, Harvard Medical School , Boston , MA , USA.
Rossmanith W; f Massachusetts Eye and Ear Infirmary, Harvard Medical School , Boston , MA , USA.
Hou YM; d Department of Biochemistry and Molecular Biology , Thomas Jefferson University , Philadelphia , PA , USA.

RNA Biol ; 13(5): 477-85, 2016 05 03.

Article em En | MEDLINE | ID: mdl-26950678

Assuntos

3-Hidroxiacil-CoA Desidrogenases/genética; Deficiências do Desenvolvimento/genética; Epilepsia Resistente a Medicamentos/genética; Mutação; Ribonuclease P/metabolismo; Análise de Sequência de DNA/métodos; Criança; Exoma; Genes Ligados ao Cromossomo X; Humanos; Masculino; Mitocôndrias/genética; Mitocôndrias/metabolismo; RNA de Transferência/metabolismo

Palavras-chave

17ß-hydroxysteroid dehydrogenase type 10; HSD10 disease; PRORP; SDR5C1; TRMT10C

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Deficiências do Desenvolvimento / Análise de Sequência de DNA / Ribonuclease P / Epilepsia Resistente a Medicamentos / 3-Hidroxiacil-CoA Desidrogenases / Mutação Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Child / Humans / Male Idioma: En Revista: RNA Biol Assunto da revista: BIOLOGIA MOLECULAR Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Estados Unidos

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