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

Autor:	Birgit Budde, Mila Beyer, Jörg Schipper, Birgit Lorenz, Boris Görg, Ulrich Zechner, Hans-Jörg Wittsack, Diran Herebian, Christopher Pfleger, Hanno J. Bolz, Janine Altmüller, Jörg Schaper, Natalia Qvartskhava, Markus N. Preising, Dieter Häussinger, Alfons Schnitzler, Holger Gohlke, Mohammad R. Toliat, Peter Nürnberg, Christoph Friedburg, Michele Bonus, Helge J. Zöllner, Dirk Klee
Rok vydání:	2019
Předmět:	0301 basic medicine Retinal degeneration Biallelic Mutation Taurine animal structures Consanguinity Biology medicine.disease Disease gene identification Biochemistry Molecular biology Transmembrane protein Solute carrier family 03 medical and health sciences chemistry.chemical_compound 030104 developmental biology 0302 clinical medicine chemistry Genetics medicine Molecular Biology 030217 neurology & neurosurgery Exome sequencing Biotechnology
Zdroj:	The FASEB Journal. 33:11507-11527
ISSN:	1530-6860 0892-6638
DOI:	10.1096/fj.201900914rr
Popis:	We previously reported that inactivation of the transmembrane taurine transporter (TauT or solute carrier 6a6) causes early retinal degeneration in mice. Compatible with taurine’s indispensability ...
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::09c6dc5010efc24144413470e7e7116c https://doi.org/10.1096/fj.201900914rr Zobrazit plný text záznamu Plný text