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CPEB alteration and aberrant transcriptome-polyadenylation lead to a treatable SLC19A3 deficiency in Huntington's disease.
Picó, Sara; Parras, Alberto; Santos-Galindo, María; Pose-Utrilla, Julia; Castro, Margarita; Fraga, Enrique; Hernández, Ivó H; Elorza, Ainara; Anta, Héctor; Wang, Nan; Martí-Sánchez, Laura; Belloc, Eulàlia; Garcia-Esparcia, Paula; Garrido, Juan J; Ferrer, Isidro; Macías-García, Daniel; Mir, Pablo; Artuch, Rafael; Pérez, Belén; Hernández, Félix; Navarro, Pilar; López-Sendón, José Luis; Iglesias, Teresa; Yang, X William; Méndez, Raúl; Lucas, José J.
Afiliação
  • Picó S; Center for Molecular Biology "Severo Ochoa" (CBMSO) CSIC/UAM, Madrid, 28049, Spain.
  • Parras A; Networking Research Center on Neurodegenerative Diseases (CIBERNED), Instituto de Salud Carlos III, Madrid, 28031, Spain.
  • Santos-Galindo M; Center for Molecular Biology "Severo Ochoa" (CBMSO) CSIC/UAM, Madrid, 28049, Spain.
  • Pose-Utrilla J; Networking Research Center on Neurodegenerative Diseases (CIBERNED), Instituto de Salud Carlos III, Madrid, 28031, Spain.
  • Castro M; Center for Molecular Biology "Severo Ochoa" (CBMSO) CSIC/UAM, Madrid, 28049, Spain.
  • Fraga E; Networking Research Center on Neurodegenerative Diseases (CIBERNED), Instituto de Salud Carlos III, Madrid, 28031, Spain.
  • Hernández IH; Networking Research Center on Neurodegenerative Diseases (CIBERNED), Instituto de Salud Carlos III, Madrid, 28031, Spain.
  • Elorza A; Instituto de Investigaciones Biomédicas "Alberto Sols," Consejo Superior de Investigaciones Científicas-Universidad Autónoma de Madrid (CSIC-UAM), Madrid 28029, Spain.
  • Anta H; Center for Molecular Biology "Severo Ochoa" (CBMSO) CSIC/UAM, Madrid, 28049, Spain.
  • Wang N; Centro de Diagnóstico de Enfermedades Moleculares (CEDEM), Madrid 28049, Spain.
  • Martí-Sánchez L; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, Madrid,28029, Spain.
  • Belloc E; Center for Molecular Biology "Severo Ochoa" (CBMSO) CSIC/UAM, Madrid, 28049, Spain.
  • Garcia-Esparcia P; Networking Research Center on Neurodegenerative Diseases (CIBERNED), Instituto de Salud Carlos III, Madrid, 28031, Spain.
  • Garrido JJ; Center for Molecular Biology "Severo Ochoa" (CBMSO) CSIC/UAM, Madrid, 28049, Spain.
  • Ferrer I; Networking Research Center on Neurodegenerative Diseases (CIBERNED), Instituto de Salud Carlos III, Madrid, 28031, Spain.
  • Macías-García D; Facultad de Ciencias, Departamento de Biología (Unidad Docente Fisiología Animal), Universidad Autónoma de Madrid, Madrid 28049, Spain.
  • Mir P; Center for Molecular Biology "Severo Ochoa" (CBMSO) CSIC/UAM, Madrid, 28049, Spain.
  • Artuch R; Networking Research Center on Neurodegenerative Diseases (CIBERNED), Instituto de Salud Carlos III, Madrid, 28031, Spain.
  • Pérez B; Cancer Research Program, Hospital del Mar Medical Research Institute (IMIM), Unidad Asociada I+D+i IMIM-IIBB (CSIC), Barcelona 08003, Spain.
  • Hernández F; Institute for Research in Biomedicine (IRB), Barcelona Institute of Science and Technology, Barcelona 08028, Spain.
  • Navarro P; Center for Neurobehavioral Genetics, Jane and Terry Semel Institute for Neuroscience and Human Behavior, David Geffen School of Medicine at UCLA, Los Angeles, CA 90095, USA.
  • López-Sendón JL; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, Madrid,28029, Spain.
  • Iglesias T; Department of Clinical Biochemistry, Institut de Recerca Sant Joan de Déu, Barcelona 08950, Spain.
  • Yang XW; Institute for Research in Biomedicine (IRB), Barcelona Institute of Science and Technology, Barcelona 08028, Spain.
  • Méndez R; Networking Research Center on Neurodegenerative Diseases (CIBERNED), Instituto de Salud Carlos III, Madrid, 28031, Spain.
  • Lucas JJ; Institute of Neuropathology, IDIBELL-University Hospital Bellvitge, University of Barcelona, Hospitalet de Llobregat, Barcelona 08908, Spain.
Sci Transl Med ; 13(613): eabe7104, 2021 Sep 29.
Article em En | MEDLINE | ID: mdl-34586830

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fatores de Transcrição / Doença de Huntington / Poliadenilação / Fatores de Poliadenilação e Clivagem de mRNA Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Ano de publicação: 2021 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fatores de Transcrição / Doença de Huntington / Poliadenilação / Fatores de Poliadenilação e Clivagem de mRNA Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Ano de publicação: 2021 Tipo de documento: Article