Novel insights into the functional metabolic impact of an apparent de novo m.8993T>G variant in the MT-ATP6 gene associated with maternally inherited form of Leigh Syndrome.

Uittenbogaard, Martine; Brantner, Christine A; Fang, ZiShui; Wong, Lee-Jun C; Gropman, Andrea; Chiaramello, Anne

Uittenbogaard, Martine; Brantner, Christine A; Fang, ZiShui; Wong, Lee-Jun C; Gropman, Andrea; Chiaramello, Anne.

Afiliação

Uittenbogaard M; Department of Anatomy and Regenerative Biology, George Washington University School of Medicine and Health Sciences, Washington, DC 20037, USA.
Brantner CA; GW Nanofabrication and Imaging Center, Office of the Vice President for Research, George Washington University, Washington, DC 20052, USA.
Fang Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Wong LC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Gropman A; Children's National Medical Center, Division of Neurogenetics and Developmental Pediatrics, Washington, DC 20010, USA.
Chiaramello A; Department of Anatomy and Regenerative Biology, George Washington University School of Medicine and Health Sciences, Washington, DC 20037, USA. Electronic address: achiaram@gwu.edu.

Mol Genet Metab ; 124(1): 71-81, 2018 05.

Article em En | MEDLINE | ID: mdl-29602698

Assuntos

Fibroblastos/metabolismo; Doença de Leigh/genética; Doença de Leigh/fisiopatologia; ATPases Mitocondriais Próton-Translocadoras/genética; DNA Mitocondrial/genética; Metabolismo Energético; Feminino; Fibroblastos/citologia; Glicólise; Sequenciamento de Nucleotídeos em Larga Escala; Humanos; Lactente; Doença de Leigh/diagnóstico; Masculino; Mitocôndrias/metabolismo; Mães; Mutação; Fosforilação Oxidativa; Linhagem; Adulto Jovem

Palavras-chave

ATP synthase; Extracellular flux analysis; MT-ATP6 gene; Mitochondrial encephalopathy; Mitochondrial morphometric analysis; de novo mutation

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doença de Leigh / ATPases Mitocondriais Próton-Translocadoras / Fibroblastos Tipo de estudo: Diagnostic_studies / Risk_factors_studies Limite: Adult / Female / Humans / Infant / Male Idioma: En Ano de publicação: 2018 Tipo de documento: Article

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