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: gohlke h.
FASEB J. 2019 Oct;33(10):11507-11527. doi: 10.1096/fj.201900914RR. Epub 2019 Jul 25.
FASEB J. 2019.
PMID: 31345061
TAUT(p.A78E) still localized in the plasma membrane but is predicted to impact structural stabilization. (3)H-taurine uptake by peripheral blood mononuclear cells was reduced by 95%, and taurine levels were severely reduced in plasma, skeletal muscle, and brain. ...R., Pfl …
TAUT(p.A78E) still localized in the plasma membrane but is predicted to impact structural stabilization. (3)H-taurine uptake by perip …