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A mutation in SLC37A4 causes a dominantly inherited congenital disorder of glycosylation characterized by liver dysfunction.
Ng, Bobby G; Sosicka, Paulina; Fenaille, François; Harroche, Annie; Vuillaumier-Barrot, Sandrine; Porterfield, Mindy; Xia, Zhi-Jie; Wagner, Shannon; Bamshad, Michael J; Vergnes-Boiteux, Marie-Christine; Cholet, Sophie; Dalton, Stephen; Dell, Anne; Dupré, Thierry; Fiore, Mathieu; Haslam, Stuart M; Huguenin, Yohann; Kumagai, Tadahiro; Kulik, Michael; McGoogan, Katherine; Michot, Caroline; Nickerson, Deborah A; Pascreau, Tiffany; Borgel, Delphine; Raymond, Kimiyo; Warad, Deepti; Flanagan-Steet, Heather; Steet, Richard; Tiemeyer, Michael; Seta, Nathalie; Bruneel, Arnaud; Freeze, Hudson H.
Afiliación
  • Ng BG; Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA 92037, USA.
  • Sosicka P; Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA 92037, USA.
  • Fenaille F; Université Paris-Saclay, CEA, INRAE, Département Médicaments et Technologies pour la Santé, MetaboHUB, 91191 Gif sur Yvette, France.
  • Harroche A; Hôpital Necker, Haemophilia Care Centre, 75015 Paris, France.
  • Vuillaumier-Barrot S; AP-HP, Hôpital Bichat-Claude Bernard, Biochimie Métabolique et Cellulaire, 75018 Paris, France; INSERM U1149, Université de Paris, 75018 Paris, France.
  • Porterfield M; Complex Carbohydrate Research Center, Department of Biochemistry and Molecular Biology, University of Georgia, Athens, GA 30602, USA.
  • Xia ZJ; Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA 92037, USA.
  • Wagner S; Complex Carbohydrate Research Center, Department of Biochemistry and Molecular Biology, University of Georgia, Athens, GA 30602, USA.
  • Bamshad MJ; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA.
  • Vergnes-Boiteux MC; Laboratoire d'Hématologie, CHU de Bordeaux, 33604 Pessac, France.
  • Cholet S; Université Paris-Saclay, CEA, INRAE, Département Médicaments et Technologies pour la Santé, MetaboHUB, 91191 Gif sur Yvette, France.
  • Dalton S; Center for Molecular Medicine, University of Georgia, Athens, GA 30602, USA; Department of Biochemistry and Molecular Biology, University of Georgia, Athens, GA 30602, USA.
  • Dell A; Department of Life Sciences, Imperial College London, SW7 2AZ London, UK.
  • Dupré T; AP-HP, Hôpital Bichat-Claude Bernard, Biochimie Métabolique et Cellulaire, 75018 Paris, France.
  • Fiore M; Laboratoire d'Hématologie, CHU de Bordeaux, 33604 Pessac, France; Centre de Référence des Pathologies Plaquettaires Constitutionnelles, CHU de Bordeaux, 33604 Pessac, France.
  • Haslam SM; Department of Life Sciences, Imperial College London, SW7 2AZ London, UK.
  • Huguenin Y; Centre de Ressources et de Compétence des Maladies Hémorragiques Constitutionnelles, CHU de Bordeaux, 33076 Bordeaux, France.
  • Kumagai T; Complex Carbohydrate Research Center, Department of Biochemistry and Molecular Biology, University of Georgia, Athens, GA 30602, USA.
  • Kulik M; Center for Molecular Medicine, University of Georgia, Athens, GA 30602, USA; Department of Biochemistry and Molecular Biology, University of Georgia, Athens, GA 30602, USA.
  • McGoogan K; Medical Director of Hepatology Nemours Children's Specialty Care, Jacksonville, FL 32207, USA.
  • Michot C; Department of Clinical Genetics and Reference Centre for Constitutional Bone Diseases, INSERM U1163, Université de Paris, Imagine Institute, Necker-Enfants Malades Hospital, AP-HP, 75015, Paris, France.
  • Nickerson DA; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA.
  • Pascreau T; Laboratoire d'Hématologie Biologique, AP-HP, Hôpital Necker Enfants Malades, 75015 Paris, France.
  • Borgel D; Laboratoire d'Hématologie Biologique, AP-HP, Hôpital Necker Enfants Malades, 75015 Paris, France; HITh, UMR_S 1176, INSERM, Université Paris-Saclay, 94270 Le Kremlin-Bicêtre, France.
  • Raymond K; Biochemical Genetics Laboratory, Mayo Clinic College of Medicine, Rochester, MN 55905, USA.
  • Warad D; Division of Pediatric Hematology Oncology, Mayo Clinic, Rochester, MN 55905, USA.
  • Flanagan-Steet H; JC Self Research Institute, Greenwood Genetic Center, Greenwood, SC 29646, USA.
  • Steet R; JC Self Research Institute, Greenwood Genetic Center, Greenwood, SC 29646, USA.
  • Tiemeyer M; Complex Carbohydrate Research Center, Department of Biochemistry and Molecular Biology, University of Georgia, Athens, GA 30602, USA.
  • Seta N; AP-HP, Hôpital Bichat-Claude Bernard, Biochimie Métabolique et Cellulaire, 75018 Paris, France.
  • Bruneel A; AP-HP, Hôpital Bichat-Claude Bernard, Biochimie Métabolique et Cellulaire, 75018 Paris, France; INSERM UMR1193, Université Paris-Saclay, 92290 Châtenay-Malabry, France.
  • Freeze HH; Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA 92037, USA. Electronic address: hudson@sbpdiscovery.org.
Am J Hum Genet ; 108(6): 1040-1052, 2021 06 03.
Article en En | MEDLINE | ID: mdl-33964207
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Texto completo: 1 Colección: 01-internacional Asunto principal: Proteínas de Transporte de Monosacáridos / Antiportadores / Trastornos Congénitos de Glicosilación / Retículo Endoplásmico / Hepatopatías / Mutación Tipo de estudio: Etiology_studies / Prognostic_studies Límite: Adult / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Am J Hum Genet Año: 2021 Tipo del documento: Article País de afiliación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Asunto principal: Proteínas de Transporte de Monosacáridos / Antiportadores / Trastornos Congénitos de Glicosilación / Retículo Endoplásmico / Hepatopatías / Mutación Tipo de estudio: Etiology_studies / Prognostic_studies Límite: Adult / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Am J Hum Genet Año: 2021 Tipo del documento: Article País de afiliación: Estados Unidos