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Biallelic mutation of human SLC6A6 encoding the taurine transporter TAUT is linked to early retinal degeneration.

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Title: Biallelic mutation of human SLC6A6 encoding the taurine transporter TAUT is linked to early retinal degeneration.
Authors: Preising MN; Department of Ophthalmology, Justus-Liebig University Giessen, Giessen, Germany., Görg B; Department of Gastroenterology, Hepatology, and Infectious Diseases, University Hospital of Düsseldorf-Heinrich Heine University Düsseldorf, Düsseldorf, Germany., Friedburg C; Department of Ophthalmology, Justus-Liebig University Giessen, Giessen, Germany., Qvartskhava N; Department of Gastroenterology, Hepatology, and Infectious Diseases, University Hospital of Düsseldorf-Heinrich Heine University Düsseldorf, Düsseldorf, Germany., Budde BS; Cologne Center for Genomics, University of Cologne, Cologne, Germany., Bonus M; Institute for Pharmaceutical and Medicinal Chemistry, Heinrich Heine University Düsseldorf, Düsseldorf, Germany., Toliat MR; Cologne Center for Genomics, University of Cologne, Cologne, Germany., Pfleger C; Institute for Pharmaceutical and Medicinal Chemistry, Heinrich Heine University Düsseldorf, Düsseldorf, Germany., Altmüller J; Cologne Center for Genomics, University of Cologne, Cologne, Germany.; Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany., Herebian D; Department of General Pediatrics, Neonatology, and Pediatric Cardiology, Medical Faculty, University Hospital Düsseldorf-Heinrich Heine University Düsseldorf, Düsseldorf, Germany., Beyer M; Department of Gastroenterology, Hepatology, and Infectious Diseases, University Hospital of Düsseldorf-Heinrich Heine University Düsseldorf, Düsseldorf, Germany., Zöllner HJ; Institute of Clinical Neuroscience and Medical Psychology, University Hospital of Düsseldorf-Heinrich Heine University Düsseldorf, Düsseldorf, Germany., Wittsack HJ; Department of Diagnostic and Interventional Radiology, University Hospital of Düsseldorf-Heinrich Heine University Düsseldorf, Düsseldorf, Germany., Schaper J; Department of Diagnostic and Interventional Radiology, University Hospital of Düsseldorf-Heinrich Heine University Düsseldorf, Düsseldorf, Germany., Klee D; Department of Diagnostic and Interventional Radiology, University Hospital of Düsseldorf-Heinrich Heine University Düsseldorf, Düsseldorf, Germany., Zechner U; Senckenberg Centre for Human Genetics, Frankfurt on the Main, Germany.; Institute of Human Genetics, Mainz University Medical Center, Mainz, Germany., Nürnberg P; Cologne Center for Genomics, University of Cologne, Cologne, Germany.; Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany.; Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany., Schipper J; Klinik für Hals-Nasen-Ohren Heilkunde, University Hospital of Düsseldorf-Heinrich Heine University Düsseldorf, Düsseldorf, Germany., Schnitzler A; Institute of Clinical Neuroscience and Medical Psychology, University Hospital of Düsseldorf-Heinrich Heine University Düsseldorf, Düsseldorf, Germany., Gohlke H; Institute for Pharmaceutical and Medicinal Chemistry, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.; John von Neumann Institute for Computing (NIC)-Jülich Supercomputing Centre (JSC)-Structural Biochemistry, Institute of Complex Systems (ICS 6), Research Centre Jülich, Jülich, Germany., Lorenz B; Department of Ophthalmology, Justus-Liebig University Giessen, Giessen, Germany., Häussinger D; Department of Gastroenterology, Hepatology, and Infectious Diseases, University Hospital of Düsseldorf-Heinrich Heine University Düsseldorf, Düsseldorf, Germany., Bolz HJ; Institute of Human Genetics, University of Cologne, Cologne, Germany.; Senckenberg Centre for Human Genetics, Frankfurt on the Main, Germany.
Source: FASEB journal : official publication of the Federation of American Societies for Experimental Biology [FASEB J] 2019 Oct; Vol. 33 (10), pp. 11507-11527. Date of Electronic Publication: 2019 Jul 25.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Federation of American Societies for Experimental Biology Country of Publication: United States NLM ID: 8804484 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-6860 (Electronic) Linking ISSN: 08926638 NLM ISO Abbreviation: FASEB J Subsets: MEDLINE
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  Data: Biallelic mutation of human SLC6A6 encoding the taurine transporter TAUT is linked to early retinal degeneration.
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  Data: <searchLink fieldCode="AU" term="%22Preising+MN%22">Preising MN</searchLink>; Department of Ophthalmology, Justus-Liebig University Giessen, Giessen, Germany.<br /><searchLink fieldCode="AU" term="%22Görg+B%22">Görg B</searchLink>; Department of Gastroenterology, Hepatology, and Infectious Diseases, University Hospital of Düsseldorf-Heinrich Heine University Düsseldorf, Düsseldorf, Germany.<br /><searchLink fieldCode="AU" term="%22Friedburg+C%22">Friedburg C</searchLink>; Department of Ophthalmology, Justus-Liebig University Giessen, Giessen, Germany.<br /><searchLink fieldCode="AU" term="%22Qvartskhava+N%22">Qvartskhava N</searchLink>; Department of Gastroenterology, Hepatology, and Infectious Diseases, University Hospital of Düsseldorf-Heinrich Heine University Düsseldorf, Düsseldorf, Germany.<br /><searchLink fieldCode="AU" term="%22Budde+BS%22">Budde BS</searchLink>; Cologne Center for Genomics, University of Cologne, Cologne, Germany.<br /><searchLink fieldCode="AU" term="%22Bonus+M%22">Bonus M</searchLink>; Institute for Pharmaceutical and Medicinal Chemistry, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.<br /><searchLink fieldCode="AU" term="%22Toliat+MR%22">Toliat MR</searchLink>; Cologne Center for Genomics, University of Cologne, Cologne, Germany.<br /><searchLink fieldCode="AU" term="%22Pfleger+C%22">Pfleger C</searchLink>; Institute for Pharmaceutical and Medicinal Chemistry, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.<br /><searchLink fieldCode="AU" term="%22Altmüller+J%22">Altmüller J</searchLink>; Cologne Center for Genomics, University of Cologne, Cologne, Germany.; Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany.<br /><searchLink fieldCode="AU" term="%22Herebian+D%22">Herebian D</searchLink>; Department of General Pediatrics, Neonatology, and Pediatric Cardiology, Medical Faculty, University Hospital Düsseldorf-Heinrich Heine University Düsseldorf, Düsseldorf, Germany.<br /><searchLink fieldCode="AU" term="%22Beyer+M%22">Beyer M</searchLink>; Department of Gastroenterology, Hepatology, and Infectious Diseases, University Hospital of Düsseldorf-Heinrich Heine University Düsseldorf, Düsseldorf, Germany.<br /><searchLink fieldCode="AU" term="%22Zöllner+HJ%22">Zöllner HJ</searchLink>; Institute of Clinical Neuroscience and Medical Psychology, University Hospital of Düsseldorf-Heinrich Heine University Düsseldorf, Düsseldorf, Germany.<br /><searchLink fieldCode="AU" term="%22Wittsack+HJ%22">Wittsack HJ</searchLink>; Department of Diagnostic and Interventional Radiology, University Hospital of Düsseldorf-Heinrich Heine University Düsseldorf, Düsseldorf, Germany.<br /><searchLink fieldCode="AU" term="%22Schaper+J%22">Schaper J</searchLink>; Department of Diagnostic and Interventional Radiology, University Hospital of Düsseldorf-Heinrich Heine University Düsseldorf, Düsseldorf, Germany.<br /><searchLink fieldCode="AU" term="%22Klee+D%22">Klee D</searchLink>; Department of Diagnostic and Interventional Radiology, University Hospital of Düsseldorf-Heinrich Heine University Düsseldorf, Düsseldorf, Germany.<br /><searchLink fieldCode="AU" term="%22Zechner+U%22">Zechner U</searchLink>; Senckenberg Centre for Human Genetics, Frankfurt on the Main, Germany.; Institute of Human Genetics, Mainz University Medical Center, Mainz, Germany.<br /><searchLink fieldCode="AU" term="%22Nürnberg+P%22">Nürnberg P</searchLink>; Cologne Center for Genomics, University of Cologne, Cologne, Germany.; Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany.; Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany.<br /><searchLink fieldCode="AU" term="%22Schipper+J%22">Schipper J</searchLink>; Klinik für Hals-Nasen-Ohren Heilkunde, University Hospital of Düsseldorf-Heinrich Heine University Düsseldorf, Düsseldorf, Germany.<br /><searchLink fieldCode="AU" term="%22Schnitzler+A%22">Schnitzler A</searchLink>; Institute of Clinical Neuroscience and Medical Psychology, University Hospital of Düsseldorf-Heinrich Heine University Düsseldorf, Düsseldorf, Germany.<br /><searchLink fieldCode="AU" term="%22Gohlke+H%22">Gohlke H</searchLink>; Institute for Pharmaceutical and Medicinal Chemistry, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.; John von Neumann Institute for Computing (NIC)-Jülich Supercomputing Centre (JSC)-Structural Biochemistry, Institute of Complex Systems (ICS 6), Research Centre Jülich, Jülich, Germany.<br /><searchLink fieldCode="AU" term="%22Lorenz+B%22">Lorenz B</searchLink>; Department of Ophthalmology, Justus-Liebig University Giessen, Giessen, Germany.<br /><searchLink fieldCode="AU" term="%22Häussinger+D%22">Häussinger D</searchLink>; Department of Gastroenterology, Hepatology, and Infectious Diseases, University Hospital of Düsseldorf-Heinrich Heine University Düsseldorf, Düsseldorf, Germany.<br /><searchLink fieldCode="AU" term="%22Bolz+HJ%22">Bolz HJ</searchLink>; Institute of Human Genetics, University of Cologne, Cologne, Germany.; Senckenberg Centre for Human Genetics, Frankfurt on the Main, Germany.
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  Data: <searchLink fieldCode="JN" term="%228804484%22">FASEB journal : official publication of the Federation of American Societies for Experimental Biology</searchLink> [FASEB J] 2019 Oct; Vol. 33 (10), pp. 11507-11527. <i>Date of Electronic Publication: </i>2019 Jul 25.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Federation+of+American+Societies+for+Experimental+Biology%22">Federation of American Societies for Experimental Biology </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>8804484 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1530-6860 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2208926638%22">08926638 </searchLink><i>NLM ISO Abbreviation: </i>FASEB J <i>Subsets: </i>MEDLINE
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