Severe phenotype of ATP6AP1-CDG in two siblings with a novel mutation leading to a differential tissue-specific ATP6AP1 protein pattern, cellular oxidative stress and hepatic copper accumulation.

Ondruskova, Nina; Honzik, Tomas; Vondrackova, Alzbeta; Stranecky, Viktor; Tesarova, Marketa; Zeman, Jiri; Hansikova, Hana

Ondruskova, Nina; Honzik, Tomas; Vondrackova, Alzbeta; Stranecky, Viktor; Tesarova, Marketa; Zeman, Jiri; Hansikova, Hana.

Afiliación

Ondruskova N; Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.
Honzik T; Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.
Vondrackova A; Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.
Stranecky V; Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.
Tesarova M; Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.
Zeman J; Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.
Hansikova H; Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.

J Inherit Metab Dis ; 43(4): 694-700, 2020 07.

Article en En | MEDLINE | ID: mdl-32216104

Asunto(s)

Trastornos Congénitos de Glicosilación/genética; Cobre/metabolismo; Síndromes de Inmunodeficiencia/genética; Hepatopatías/genética; ATPasas de Translocación de Protón Vacuolares/genética; Trastornos Congénitos de Glicosilación/diagnóstico; Trastornos Congénitos de Glicosilación/metabolismo; Resultado Fatal; Humanos; Síndromes de Inmunodeficiencia/diagnóstico; Síndromes de Inmunodeficiencia/metabolismo; Lactante; Hepatopatías/diagnóstico; Hepatopatías/metabolismo; Masculino; Metabolómica; Mutación; Estrés Oxidativo/genética; Fenotipo; Procesamiento Proteico-Postraduccional; Hermanos; ATPasas de Translocación de Protón Vacuolares/deficiencia

Palabras clave

ATP6AP1; congenital disorders of glycosylation; copper metabolism; glycosylation; metabolic disorder; oxidative stress

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Trastornos Congénitos de Glicosilación / Cobre / ATPasas de Translocación de Protón Vacuolares / Síndromes de Inmunodeficiencia / Hepatopatías Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Humans / Infant / Male Idioma: En Revista: J Inherit Metab Dis Año: 2020 Tipo del documento: Article País de afiliación: República Checa

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