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Biallelic mutation of human SLC6A6 encoding the taurine transporter TAUT is linked to early retinal degeneration.
Preising MN, Görg B, Friedburg C, Qvartskhava N, Budde BS, Bonus M, Toliat MR, Pfleger C, Altmüller J, Herebian D, Beyer M, Zöllner HJ, Wittsack HJ, Schaper J, Klee D, Zechner U, Nürnberg P, Schipper J, Schnitzler A, Gohlke H, Lorenz B, Häussinger D, Bolz HJ. Preising MN, et al. Among authors: qvartskhava n. FASEB J. 2019 Oct;33(10):11507-11527. doi: 10.1096/fj.201900914RR. Epub 2019 Jul 25. FASEB J. 2019. PMID: 31345061
Hyperammonemia in gene-targeted mice lacking functional hepatic glutamine synthetase.
Qvartskhava N, Lang PA, Görg B, Pozdeev VI, Ortiz MP, Lang KS, Bidmon HJ, Lang E, Leibrock CB, Herebian D, Bode JG, Lang F, Häussinger D. Qvartskhava N, et al. Proc Natl Acad Sci U S A. 2015 Apr 28;112(17):5521-6. doi: 10.1073/pnas.1423968112. Epub 2015 Apr 13. Proc Natl Acad Sci U S A. 2015. PMID: 25870278 Free PMC article.
Comment on Hakvoort et al.
Qvartskhava N, Jin CJ, Görg B, Häussinger D. Qvartskhava N, et al. Hepatology. 2019 Feb;69(2):921-922. doi: 10.1002/hep.29727. Hepatology. 2019. PMID: 29232476 No abstract available.
Inhibiting Glutamine-Dependent mTORC1 Activation Ameliorates Liver Cancers Driven by β-Catenin Mutations.
Adebayo Michael AO, Ko S, Tao J, Moghe A, Yang H, Xu M, Russell JO, Pradhan-Sundd T, Liu S, Singh S, Poddar M, Monga JS, Liu P, Oertel M, Ranganathan S, Singhi A, Rebouissou S, Zucman-Rossi J, Ribback S, Calvisi D, Qvartskhava N, Görg B, Häussinger D, Chen X, Monga SP. Adebayo Michael AO, et al. Among authors: qvartskhava n. Cell Metab. 2019 May 7;29(5):1135-1150.e6. doi: 10.1016/j.cmet.2019.01.002. Epub 2019 Jan 31. Cell Metab. 2019. PMID: 30713111 Free PMC article.
21 results