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Variants in the MIPEP gene presenting with complex neurological phenotype without cardiomyopathy, impair OXPHOS protein maturation and lead to a reduced OXPHOS abundance in patient cells.
Pulman, Juliette; Ruzzenente, Benedetta; Horak, Martin; Barcia, Giulia; Boddaert, Nathalie; Munnich, Arnold; Rötig, Agnès; Metodiev, Metodi D.
Afiliação
  • Pulman J; Genetics of Mitochondrial Disorders, INSERM UMR1163, Université de Paris, Institut Imagine, Paris, France.
  • Ruzzenente B; Genetics of Mitochondrial Disorders, INSERM UMR1163, Université de Paris, Institut Imagine, Paris, France.
  • Horak M; Genetics of Mitochondrial Disorders, INSERM UMR1163, Université de Paris, Institut Imagine, Paris, France.
  • Barcia G; Department of Genetics, Reference Center for Mitochondrial Diseases (CARAMMEL), Hôpital Necker-Enfants-Malades, Paris, France.
  • Boddaert N; Department of Pediatric Radiology, Hôpital Necker-Enfants-Malades, AP-HP, Université de Paris, INSERM U1163, Institut Imagine, Paris, France.
  • Munnich A; Genetics of Mitochondrial Disorders, INSERM UMR1163, Université de Paris, Institut Imagine, Paris, France; Department of Genetics, Reference Center for Mitochondrial Diseases (CARAMMEL), Hôpital Necker-Enfants-Malades, Paris, France.
  • Rötig A; Genetics of Mitochondrial Disorders, INSERM UMR1163, Université de Paris, Institut Imagine, Paris, France.
  • Metodiev MD; Genetics of Mitochondrial Disorders, INSERM UMR1163, Université de Paris, Institut Imagine, Paris, France. Electronic address: metodi.metodiev@inserm.fr.
Mol Genet Metab ; 134(3): 267-273, 2021 11.
Article em En | MEDLINE | ID: mdl-34620555
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Metaloendopeptidases / Doenças Mitocondriais / Cardiomiopatias Tipo de estudo: Diagnostic_studies Limite: Adult / Humans / Male Idioma: En Revista: Mol Genet Metab Ano de publicação: 2021 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Metaloendopeptidases / Doenças Mitocondriais / Cardiomiopatias Tipo de estudo: Diagnostic_studies Limite: Adult / Humans / Male Idioma: En Revista: Mol Genet Metab Ano de publicação: 2021 Tipo de documento: Article