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Impaired proteasome activity and neurodegeneration with brain iron accumulation in FBXO7 defect.
Correa-Vela, Marta; Lupo, Vincenzo; Montpeyó, Marta; Sancho, Paula; Marcé-Grau, Anna; Hernández-Vara, Jorge; Darling, Alejandra; Jenkins, Alison; Fernández-Rodríguez, Sandra; Tello, Cristina; Ramírez-Jiménez, Laura; Pérez, Belén; Sánchez-Montáñez, Ángel; Macaya, Alfons; Sobrido, María J; Martinez-Vicente, Marta; Pérez-Dueñas, Belén; Espinós, Carmen.
Afiliação
  • Correa-Vela M; Department of Pediatric Neurology, Hospital Universitari Vall d'Hebron, Vall d´Hebron Institut de Recerca, Barcelona, Spain.
  • Lupo V; Universitat Autònoma de Barcelona, Barcelona, Spain.
  • Montpeyó M; Unit of Genetics and Genomics of Neuromuscular and Neurodegenerative Disorders, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain.
  • Sancho P; Joint Units INCLIVA & IIS La Fe Rare Diseases, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain.
  • Marcé-Grau A; Neurodegenerative diseases-CIBERNED, Vall d´Hebron, Institut de Recerca, Barcelona, Spain.
  • Hernández-Vara J; Unit of Genetics and Genomics of Neuromuscular and Neurodegenerative Disorders, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain.
  • Darling A; Joint Units INCLIVA & IIS La Fe Rare Diseases, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain.
  • Jenkins A; Department of Pediatric Neurology, Hospital Universitari Vall d'Hebron, Vall d´Hebron Institut de Recerca, Barcelona, Spain.
  • Fernández-Rodríguez S; Department of Neurology, Hospital Universitari Vall d'Hebron, Barcelona, Spain.
  • Tello C; Department of Pediatric Neurology, Hospital Sant Joan de Déu, Barcelona, Spain.
  • Ramírez-Jiménez L; Unit of Genetics and Genomics of Neuromuscular and Neurodegenerative Disorders, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain.
  • Pérez B; Unit of Genetics and Genomics of Neuromuscular and Neurodegenerative Disorders, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain.
  • Sánchez-Montáñez Á; Unit of Genetics and Genomics of Neuromuscular and Neurodegenerative Disorders, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain.
  • Macaya A; Unit of Genomics and Traslational Genetics, Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain.
  • Sobrido MJ; Department of Molecular Biology, Centro de Biología Molecular Severo-Ochoa UAM-CSIC, Universidad Autónoma de Madrid, Centro de Diagnóstico de Enfermedades Moleculares (CEDEM), CIBER on Rare Diseases (CIBERER), Instituto de Investigación Sanitaria Hospital La Paz (IdiPaz), Madrid, Spain.
  • Martinez-Vicente M; Department of Pediatric Radiology, Hospital Universitari Vall d'Hebrón, Barcelona, Spain.
  • Pérez-Dueñas B; Department of Pediatric Neurology, Hospital Universitari Vall d'Hebron, Vall d´Hebron Institut de Recerca, Barcelona, Spain.
  • Espinós C; Universitat Autònoma de Barcelona, Barcelona, Spain.
Ann Clin Transl Neurol ; 7(8): 1436-1442, 2020 08.
Article em En | MEDLINE | ID: mdl-32767480
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Distrofias Neuroaxonais / Distúrbios do Metabolismo do Ferro / Transtornos Parkinsonianos / Proteínas F-Box / Complexo de Endopeptidases do Proteassoma Tipo de estudo: Prognostic_studies Limite: Adult / Female / Humans Idioma: En Revista: Ann Clin Transl Neurol Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Espanha
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Distrofias Neuroaxonais / Distúrbios do Metabolismo do Ferro / Transtornos Parkinsonianos / Proteínas F-Box / Complexo de Endopeptidases do Proteassoma Tipo de estudo: Prognostic_studies Limite: Adult / Female / Humans Idioma: En Revista: Ann Clin Transl Neurol Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Espanha