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The p.R482W substitution in A-type lamins deregulates SREBP1 activity in Dunnigan-type familial partial lipodystrophy.
Vadrot, Nathalie; Duband-Goulet, Isabelle; Cabet, Eva; Attanda, Wikayatou; Barateau, Alice; Vicart, Patrick; Gerbal, Fabien; Briand, Nolwenn; Vigouroux, Corinne; Oldenburg, Anja R; Lund, Eivind G; Collas, Philippe; Buendia, Brigitte.
Afiliación
  • Vadrot N; Unit of Functional and Adaptive Biology (BFA), Université Paris Diderot-Paris 7 Affiliated with CNRS, 4 rue Marie-Andrée Lagroua Weill-Halle, Paris Cedex 13 75205, France.
  • Duband-Goulet I; Unit of Functional and Adaptive Biology (BFA), Université Paris Diderot-Paris 7 Affiliated with CNRS, 4 rue Marie-Andrée Lagroua Weill-Halle, Paris Cedex 13 75205, France.
  • Cabet E; Unit of Functional and Adaptive Biology (BFA), Université Paris Diderot-Paris 7 Affiliated with CNRS, 4 rue Marie-Andrée Lagroua Weill-Halle, Paris Cedex 13 75205, France.
  • Attanda W; Unit of Functional and Adaptive Biology (BFA), Université Paris Diderot-Paris 7 Affiliated with CNRS, 4 rue Marie-Andrée Lagroua Weill-Halle, Paris Cedex 13 75205, France.
  • Barateau A; Unit of Functional and Adaptive Biology (BFA), Université Paris Diderot-Paris 7 Affiliated with CNRS, 4 rue Marie-Andrée Lagroua Weill-Halle, Paris Cedex 13 75205, France.
  • Vicart P; Unit of Functional and Adaptive Biology (BFA), Université Paris Diderot-Paris 7 Affiliated with CNRS, 4 rue Marie-Andrée Lagroua Weill-Halle, Paris Cedex 13 75205, France.
  • Gerbal F; Université Paris Diderot, Matière et Systèmes Complexes, CNRS UMR 7057, 10 rue Alice Domon et Leonie Duquet, Paris Cedex 13 75205, France, Physics Department, Université Pierre et Marie Curie, Paris UFR925, France.
  • Briand N; Faculté de Médecine Pierre et Marie Curie, Inserm, UMR S938, Centre de Recherche Saint-Antoine, 27 rue Chaligny, Paris F-75012, France, Sorbonne Universités, UPMC Univ Paris 6, UMR S938, Paris F-75005, France, ICAN, Institute of Cardiometabolism and Nutrition, Paris F-75013, France.
  • Vigouroux C; Faculté de Médecine Pierre et Marie Curie, Inserm, UMR S938, Centre de Recherche Saint-Antoine, 27 rue Chaligny, Paris F-75012, France, Sorbonne Universités, UPMC Univ Paris 6, UMR S938, Paris F-75005, France, ICAN, Institute of Cardiometabolism and Nutrition, Paris F-75013, France, Laboratoire Comm
  • Oldenburg AR; Institute of Basic Medical Sciences, Faculty of Medicine, University of Oslo, PO Box 1112 Blindern, Oslo 0317, Norway.
  • Lund EG; Institute of Basic Medical Sciences, Faculty of Medicine, University of Oslo, PO Box 1112 Blindern, Oslo 0317, Norway.
  • Collas P; Institute of Basic Medical Sciences, Faculty of Medicine, University of Oslo, PO Box 1112 Blindern, Oslo 0317, Norway.
  • Buendia B; Unit of Functional and Adaptive Biology (BFA), Université Paris Diderot-Paris 7 Affiliated with CNRS, 4 rue Marie-Andrée Lagroua Weill-Halle, Paris Cedex 13 75205, France, brigitte.buendia@univ-paris-diderot.fr.
Hum Mol Genet ; 24(7): 2096-109, 2015 Apr 01.
Article en En | MEDLINE | ID: mdl-25524705

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Sustitución de Aminoácidos / Lamina Tipo A / Proteína 1 de Unión a los Elementos Reguladores de Esteroles / Lipodistrofia Parcial Familiar Límite: Adult / Female / Humans / Male / Middle aged Idioma: En Revista: Hum Mol Genet Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Año: 2015 Tipo del documento: Article País de afiliación: Francia Pais de publicación: Reino Unido

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Sustitución de Aminoácidos / Lamina Tipo A / Proteína 1 de Unión a los Elementos Reguladores de Esteroles / Lipodistrofia Parcial Familiar Límite: Adult / Female / Humans / Male / Middle aged Idioma: En Revista: Hum Mol Genet Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Año: 2015 Tipo del documento: Article País de afiliación: Francia Pais de publicación: Reino Unido