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Mutated SUCLG1 causes mislocalization of SUCLG2 protein, morphological alterations of mitochondria and an early-onset severe neurometabolic disorder.
Chinopoulos, Christos; Batzios, Spyros; van den Heuvel, Lambertus P; Rodenburg, Richard; Smeets, Roel; Waterham, Hans R; Turkenburg, Marjolein; Ruiter, Jos P; Wanders, Ronald J A; Doczi, Judit; Horvath, Gergo; Dobolyi, Arpad; Vargiami, Euthymia; Wevers, Ron A; Zafeiriou, Dimitrios.
Afiliação
  • Chinopoulos C; Department of Medical Biochemistry, Semmelweis University, Budapest, Hungary.
  • Batzios S; 1st Department of Pediatrics, "Hippokratio" General Hospital, Aristotle University, Thessaloniki, Greece; Department of Paediatric Metabolic Medicine, Great Ormond Street Hospital, London, UK.
  • van den Heuvel LP; Department of Pediatrics, Radboud University Medical Centre, Nijmegen, The Netherlands; Translational Metabolic Laboratory, Department Laboratory Medicine, Radboud University Medical Centre, Nijmegen, The Netherlands.
  • Rodenburg R; Department of Pediatrics, Radboud University Medical Centre, Nijmegen, The Netherlands; Translational Metabolic Laboratory, Department Laboratory Medicine, Radboud University Medical Centre, Nijmegen, The Netherlands.
  • Smeets R; Translational Metabolic Laboratory, Department Laboratory Medicine, Radboud University Medical Centre, Nijmegen, The Netherlands.
  • Waterham HR; Laboratory Genetic Metabolic Diseases, Amsterdam University Medical Centers, University of Amsterdam, The Netherlands.
  • Turkenburg M; Laboratory Genetic Metabolic Diseases, Amsterdam University Medical Centers, University of Amsterdam, The Netherlands.
  • Ruiter JP; Laboratory Genetic Metabolic Diseases, Amsterdam University Medical Centers, University of Amsterdam, The Netherlands.
  • Wanders RJA; Laboratory Genetic Metabolic Diseases, Amsterdam University Medical Centers, University of Amsterdam, The Netherlands.
  • Doczi J; Department of Medical Biochemistry, Semmelweis University, Budapest, Hungary.
  • Horvath G; Department of Medical Biochemistry, Semmelweis University, Budapest, Hungary.
  • Dobolyi A; MTA-ELTE Laboratory of Molecular and Systems Neurobiology, Department of Physiology and Neurobiology, Hungarian Academy of Sciences, Eotvos Lorand University, Budapest, Hungary; Department of Anatomy, Histology and Embryology, Semmelweis University, Budapest, Hungary.
  • Vargiami E; 1st Department of Pediatrics, "Hippokratio" General Hospital, Aristotle University, Thessaloniki, Greece.
  • Wevers RA; Translational Metabolic Laboratory, Department Laboratory Medicine, Radboud University Medical Centre, Nijmegen, The Netherlands. Electronic address: ron.wevers@radboudumc.nl.
  • Zafeiriou D; 1st Department of Pediatrics, "Hippokratio" General Hospital, Aristotle University, Thessaloniki, Greece. Electronic address: zafeiriou@icloud.com.
Mol Genet Metab ; 126(1): 43-52, 2019 01.
Article em En | MEDLINE | ID: mdl-30470562
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Succinato-CoA Ligases / Doenças Mitocondriais / Mitocôndrias / Mutação Tipo de estudo: Etiology_studies Limite: Child, preschool / Female / Humans Idioma: En Ano de publicação: 2019 Tipo de documento: Article
Texto completo
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PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Succinato-CoA Ligases / Doenças Mitocondriais / Mitocôndrias / Mutação Tipo de estudo: Etiology_studies Limite: Child, preschool / Female / Humans Idioma: En Ano de publicação: 2019 Tipo de documento: Article