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Research Article

A Novel Melanocortin-4 Receptor Mutation MC4R-P272L Associated with Severe Obesity Has Increased Propensity To Be Ubiquitinated in the ER in the Face of Correct Folding

  • Susana Granell,

    Affiliation: Department of Biochemistry and Molecular Biology, University of Arkansas for Medical Sciences, Little Rock, Arkansas, United States of America

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  • Clara Serra-Juhé,

    Affiliation: Unitat de Genètica, Universitat Pompeu Fabra, and Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Barcelona, Spain

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  • Gabriel Á. Martos-Moreno,

    Affiliation: Department of Pediatric Endocrinology, Hospital Infantil Universitario Niño Jesús, Instituto de Investigación La Princesa, Madrid, Spain

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  • Francisca Díaz,

    Affiliation: Department of Pediatric Endocrinology, Hospital Infantil Universitario Niño Jesús, Instituto de Investigación La Princesa, Madrid, Spain

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  • Luis A. Pérez-Jurado,

    Affiliation: Unitat de Genètica, Universitat Pompeu Fabra, and Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Barcelona, Spain

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  • Giulia Baldini mail,

    gbaldini@uams.edu (GB); argentefen@terra.es (JA)

    Affiliation: Department of Biochemistry and Molecular Biology, University of Arkansas for Medical Sciences, Little Rock, Arkansas, United States of America

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  • Jesús Argente mail

    gbaldini@uams.edu (GB); argentefen@terra.es (JA)

    Affiliations: Department of Pediatric Endocrinology, Hospital Infantil Universitario Niño Jesús, Instituto de Investigación La Princesa, Madrid, Spain, Department of Pediatrics, Universidad Autónoma de Madrid and Centro de Investigación Biomédica en Red de fisiopatología de la obesidad y nutrición (CIBERobn), Instituto de Salud Carlos III, Madrid, Spain

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  • Published: December 12, 2012
  • DOI: 10.1371/journal.pone.0050894

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