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Lenz-Majewski mutations in PTDSS1 affect phosphatidylinositol 4-phosphate metabolism at ER-PM and ER-Golgi junctions.
Sohn, Mira; Ivanova, Pavlina; Brown, H Alex; Toth, Daniel J; Varnai, Peter; Kim, Yeun Ju; Balla, Tamas.
Afiliación
  • Sohn M; Section on Molecular Signal Transduction, Program for Developmental Neuroscience, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892;
  • Ivanova P; Department of Pharmacology and Biochemistry, Vanderbilt-Ingram Cancer Center, The Vanderbilt Institute of Chemical Biology, Vanderbilt University School of Medicine, Nashville, TN 37232;
  • Brown HA; Department of Pharmacology and Biochemistry, Vanderbilt-Ingram Cancer Center, The Vanderbilt Institute of Chemical Biology, Vanderbilt University School of Medicine, Nashville, TN 37232;
  • Toth DJ; Section on Molecular Signal Transduction, Program for Developmental Neuroscience, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892;
  • Varnai P; Department of Physiology, Semmelweis University School of Medicine, Budapest, Hungary, H-1094.
  • Kim YJ; Section on Molecular Signal Transduction, Program for Developmental Neuroscience, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892;
  • Balla T; Section on Molecular Signal Transduction, Program for Developmental Neuroscience, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892; ballat@mail.nih.gov.
Proc Natl Acad Sci U S A ; 113(16): 4314-9, 2016 Apr 19.
Article en En | MEDLINE | ID: mdl-27044099
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Anomalías Múltiples / Enfermedades del Desarrollo Óseo / Membrana Celular / Fosfatos de Fosfatidilinositol / Transferasas de Grupos Nitrogenados / Retículo Endoplásmico / Aparato de Golgi / Discapacidad Intelectual / Mutación Límite: Humans Idioma: En Revista: Proc Natl Acad Sci U S A Año: 2016 Tipo del documento: Article Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Anomalías Múltiples / Enfermedades del Desarrollo Óseo / Membrana Celular / Fosfatos de Fosfatidilinositol / Transferasas de Grupos Nitrogenados / Retículo Endoplásmico / Aparato de Golgi / Discapacidad Intelectual / Mutación Límite: Humans Idioma: En Revista: Proc Natl Acad Sci U S A Año: 2016 Tipo del documento: Article Pais de publicación: Estados Unidos