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A novel mutation in SPART gene causes a severe neurodevelopmental delay due to mitochondrial dysfunction with complex I impairments and altered pyruvate metabolism.
Diquigiovanni, Chiara; Bergamini, Christian; Diaz, Rebeca; Liparulo, Irene; Bianco, Francesca; Masin, Luca; Baldassarro, Vito Antonio; Rizzardi, Nicola; Tranchina, Antonia; Buscherini, Francesco; Wischmeijer, Anita; Pippucci, Tommaso; Scarano, Emanuela; Cordelli, Duccio Maria; Fato, Romana; Seri, Marco; Paracchini, Silvia; Bonora, Elena.
Afiliação
  • Diquigiovanni C; Department of Medical and Surgical Sciences (DIMEC), St. Orsola-Malpighi Hospital, University of Bologna, Bologna, Italy.
  • Bergamini C; Department of Pharmacy and Biotechnology (FaBit), University of Bologna, Bologna, Italy.
  • Diaz R; School of Medicine, University of St. Andrews, St. Andrews, United Kingdom.
  • Liparulo I; Department of Pharmacy and Biotechnology (FaBit), University of Bologna, Bologna, Italy.
  • Bianco F; Department of Medical and Surgical Sciences (DIMEC), St. Orsola-Malpighi Hospital, University of Bologna, Bologna, Italy.
  • Masin L; Department of Pharmacy and Biotechnology (FaBit), University of Bologna, Bologna, Italy.
  • Baldassarro VA; IRET Foundation, Ozzano Emilia, Bologna, Italy.
  • Rizzardi N; Department of Pharmacy and Biotechnology (FaBit), University of Bologna, Bologna, Italy.
  • Tranchina A; Department of Medical and Surgical Sciences (DIMEC), St. Orsola-Malpighi Hospital, University of Bologna, Bologna, Italy.
  • Buscherini F; Department of Medical and Surgical Sciences (DIMEC), St. Orsola-Malpighi Hospital, University of Bologna, Bologna, Italy.
  • Wischmeijer A; Department of Pediatrics, Clinical Genetics Service, Regional Hospital of South Tyrol, Bolzano, Italy.
  • Pippucci T; Department of Medical and Surgical Sciences (DIMEC), St. Orsola-Malpighi Hospital, University of Bologna, Bologna, Italy.
  • Scarano E; Rare Disease Unit, Department of Pediatrics, St. Orsola-Malpighi Hospital, University of Bologna, Bologna, Italy.
  • Cordelli DM; Child Neurology and Psychiatry Unit, St. Orsola-Malpighi Hospital, University of Bologna, Bologna, Italy.
  • Fato R; Department of Pharmacy and Biotechnology (FaBit), University of Bologna, Bologna, Italy.
  • Seri M; Department of Medical and Surgical Sciences (DIMEC), St. Orsola-Malpighi Hospital, University of Bologna, Bologna, Italy.
  • Paracchini S; School of Medicine, University of St. Andrews, St. Andrews, United Kingdom.
  • Bonora E; Department of Medical and Surgical Sciences (DIMEC), St. Orsola-Malpighi Hospital, University of Bologna, Bologna, Italy.
FASEB J ; 33(10): 11284-11302, 2019 10.
Article em En | MEDLINE | ID: mdl-31314595
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Piruvatos / Proteínas de Ciclo Celular / Doenças Mitocondriais / Complexo I de Transporte de Elétrons / Transtornos do Neurodesenvolvimento / Mitocôndrias / Mutação Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Child / Humans / Male Idioma: En Revista: FASEB J Assunto da revista: BIOLOGIA / FISIOLOGIA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Itália
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Piruvatos / Proteínas de Ciclo Celular / Doenças Mitocondriais / Complexo I de Transporte de Elétrons / Transtornos do Neurodesenvolvimento / Mitocôndrias / Mutação Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Child / Humans / Male Idioma: En Revista: FASEB J Assunto da revista: BIOLOGIA / FISIOLOGIA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Itália