Biallelic mutation of human SLC6A6 encoding the taurine transporter TAUT is linked to early retinal degeneration-Reference-Cited by-同舟云学术

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

Published:2019-07-25 Issue:10 Volume:33 Page:11507-11527
ISSN:0892-6638
Container-title:The FASEB Journal
language:en
Short-container-title:FASEB j.

Author:

Preising Markus N.¹,Görg Boris²,Friedburg Christoph¹,Qvartskhava Natalia²,Budde Birgit S.³,Bonus Michele⁴,Toliat Mohammad R.³,Pfleger Christopher⁴,Altmüller Janine³⁵,Herebian Diran⁶,Beyer Mila²,Zöllner Helge J.⁷,Wittsack Hans-Jörg⁸,Schaper Jörg⁸,Klee Dirk⁸,Zechner Ulrich⁹¹⁰,Nürnberg Peter³⁵¹¹,Schipper Jörg¹²,Schnitzler Alfons⁷,Gohlke Holger⁴¹³,Lorenz Birgit¹,Häussinger Dieter²,Bolz Hanno J.¹⁴⁹

Affiliation:

1. Department of OphthalmologyJustus-Liebig University GiessenGiessenGermany

2. Department of GastroenterologyHepatologyInfectious DiseasesUniversity Hospital Düsseldorf-Heinrich Heine University DüsseldorfDüsseldorfGermany

3. Cologne Center for GenomicsUniversity of CologneCologneGermany

4. Institute for Pharmaceutical and Medicinal ChemistryHeinrich Heine University DüsseldorfDüsseldorfGermany

5. Center for Molecular Medicine CologneUniversity of CologneCologneGermany

6. Department of General PediatricsNeonatology and Pediatric CardiologyMedical FacultyUniversity Hospital Düsseldorf-Heinrich Heine University DüsseldorfDüsseldorfGermany

7. Institute of Clinical Neuroscience and Medical PsychologyUniversity Hospital Düsseldorf-Heinrich Heine University DüsseldorfDüsseldorfGermany

8. Department of Diagnostic and Interventional RadiologyUniversity Hospital Düsseldorf-Heinrich Heine University DüsseldorfDüsseldorfGermany

9. Senckenberg Centre for Human GeneticsFrankfurt on the MainGermany

10. Institute of Human GeneticsMainz UniversityMedical CenterMainzGermany

11. Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD)University of CologneCologneGermany

12. Klinik für Hals-Nasen-Ohren HeilkundeUniversity Hospital Düsseldorf-Heinrich Heine University DüsseldorfDüsseldorfGermany

13. John von Neumann Institute for Computing (NIC)Jülich Supercomputing Centre (JSC)Structural BiochemistryInstitute for Complex Systems (ICS 6)Research Centre JülichJülichGermany

14. Institute of Human GeneticsUniversity of CologneCologneGermany

Funder

Deutsche Ophthalmologische Gesellschaft

Deutsche Forschungsgemeinschaft

Publisher

Wiley

Subject

Genetics,Molecular Biology,Biochemistry,Biotechnology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1096/fj.201900914RR

Reference77 articles.

1. Cloning and expression of a cDNA encoding the transporter of taurine and beta-alanine in mouse brain.