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Absence of BiP co-chaperone DNAJC3 causes diabetes mellitus and multisystemic neurodegeneration.
Synofzik, Matthis; Haack, Tobias B; Kopajtich, Robert; Gorza, Matteo; Rapaport, Doron; Greiner, Markus; Schönfeld, Caroline; Freiberg, Clemens; Schorr, Stefan; Holl, Reinhard W; Gonzalez, Michael A; Fritsche, Andreas; Fallier-Becker, Petra; Zimmermann, Richard; Strom, Tim M; Meitinger, Thomas; Züchner, Stephan; Schüle, Rebecca; Schöls, Ludger; Prokisch, Holger.
Afiliación
  • Synofzik M; Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, University of Tübingen, 72076 Tübingen, Germany; Deutsches Zentrum für Neurodegenerative Erkrankungen, 72076 Tübingen, Germany. Electronic address: matthis.synofzik@uni-tuebingen.de.
  • Haack TB; Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, 85764 Neuherberg, Germany.
  • Kopajtich R; Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, 85764 Neuherberg, Germany.
  • Gorza M; Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, 85764 Neuherberg, Germany.
  • Rapaport D; Interfaculty Institute of Biochemistry, University of Tübingen, 72076 Tübingen, Germany.
  • Greiner M; Medical Biochemistry and Molecular Biology, University of Saarland, 66421 Homburg, Germany.
  • Schönfeld C; Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, University of Tübingen, 72076 Tübingen, Germany; Deutsches Zentrum für Neurodegenerative Erkrankungen, 72076 Tübingen, Germany; Interfaculty Institute of Biochemistry, University of Tübingen, 72076 Tübingen, Germ
  • Freiberg C; Department of Pediatrics and Adolescent Medicine, University Medical Center Göttingen, Georg August University, 37075 Göttingen, Germany.
  • Schorr S; Medical Biochemistry and Molecular Biology, University of Saarland, 66421 Homburg, Germany.
  • Holl RW; Institute for Epidemiology and Medical Biometry, University of Ulm, 89081 Ulm, Germany.
  • Gonzalez MA; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL 33136, USA.
  • Fritsche A; Division of Endocrinology, Diabetology, Angiology, Nephrology, and Clinical Chemistry, Department of Internal Medicine, University of Tübingen, 72076 Tübingen, Germany.
  • Fallier-Becker P; Institute of Pathology and Neuropathology, University of Tübingen, 72076 Tübingen, Germany.
  • Zimmermann R; Medical Biochemistry and Molecular Biology, University of Saarland, 66421 Homburg, Germany.
  • Strom TM; Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, 85764 Neuherberg, Germany.
  • Meitinger T; Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, 85764 Neuherberg, Germany.
  • Züchner S; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL 33136, USA.
  • Schüle R; Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, University of Tübingen, 72076 Tübingen, Germany; Deutsches Zentrum für Neurodegenerative Erkrankungen, 72076 Tübingen, Germany; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman In
  • Schöls L; Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, University of Tübingen, 72076 Tübingen, Germany; Deutsches Zentrum für Neurodegenerative Erkrankungen, 72076 Tübingen, Germany. Electronic address: ludger.schoels@uni-tuebingen.de.
  • Prokisch H; Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, 85764 Neuherberg, Germany.
Am J Hum Genet ; 95(6): 689-97, 2014 Dec 04.
Article en En | MEDLINE | ID: mdl-25466870
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Regulación de la Expresión Génica / Atrofia de Múltiples Sistemas / Diabetes Mellitus Tipo 1 / Proteínas del Choque Térmico HSP40 / Proteínas de Choque Térmico Tipo de estudio: Diagnostic_studies / Etiology_studies / Prognostic_studies Límite: Adolescent / Adult / Female / Humans / Male Idioma: En Revista: Am J Hum Genet Año: 2014 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: Regulación de la Expresión Génica / Atrofia de Múltiples Sistemas / Diabetes Mellitus Tipo 1 / Proteínas del Choque Térmico HSP40 / Proteínas de Choque Térmico Tipo de estudio: Diagnostic_studies / Etiology_studies / Prognostic_studies Límite: Adolescent / Adult / Female / Humans / Male Idioma: En Revista: Am J Hum Genet Año: 2014 Tipo del documento: Article Pais de publicación: Estados Unidos