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@ARTICLE{Preising:864224,
author = {Preising, Markus N. and Görg, Boris and Friedburg,
Christoph and Qvartskhava, Natalia and Budde, Birgit S. and
Bonus, Michele and Toliat, Mohammad R. and Pfleger,
Christopher and Altmüller, Janine and Herebian, Diran and
Beyer, Mila and Zöllner, Helge J. and Wittsack, Hans-Jörg
and Schaper, Jörg and Klee, Dirk and Zechner, Ulrich and
Nürnberg, Peter and Schipper, Jörg and Schnitzler, Alfons
and Gohlke, Holger and Lorenz, Birgit and Häussinger,
Dieter and Bolz, Hanno J.},
title = {{B}iallelic mutation of human {SLC}6{A}6 encoding the
taurine transporter {TAUT} is linked to early retinal
degeneration},
journal = {The FASEB journal},
volume = {33},
number = {10},
issn = {1530-6860},
address = {Bethesda, Md.},
publisher = {FASEB},
reportid = {FZJ-2019-04062},
pages = {11507–11527},
year = {2019},
abstract = {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 for cell volume
homeostasis, protein stabilization, cytoprotection,
antioxidation, and immuno- and neuromodulation, mice develop
multisystemic dysfunctions (hearing loss; liver fibrosis;
and behavioral, heart, and skeletal muscle abnormalities)
later on. Here, by genetic, cell biologic, in
vivo1H–magnetic resonance spectroscopy and molecular
dynamics simulation studies, we conducted in-depth
characterization of a novel disorder: human TAUT deficiency.
Loss of TAUT function due to a homozygous missense mutation
caused panretinal degeneration in 2 brothers. TAUTp.A78E
still localized in the plasma membrane but is predicted to
impact structural stabilization. 3H-taurine uptake by
peripheral blood mononuclear cells was reduced by $95\%,$
and taurine levels were severely reduced in plasma, skeletal
muscle, and brain. Extraocular dysfunctions were not yet
detected, but significantly increased urinary excretion of
8-oxo-7,8-dihydroguanosine indicated generally enhanced (yet
clinically unapparent) oxidative stress and RNA oxidation,
warranting continuous broad surveillance.—Preising, M. N.,
Görg, B., Friedburg, C., Qvartskhava, N., Budde, B. S.,
Bonus, M., Toliat, M. R., Pfleger, C., Altmüller, J.,
Herebian, D., Beyer, M., Zöllner, H. J., Wittsack, H.-J.,
Schaper, J., Klee, D., Zechner, U., Nürnberg, P., Schipper,
J., Schnitzler, A., Gohlke, H., Lorenz, B., Häussinger, D.,
Bolz, H. J. Biallelic mutation of human SLC6A6 encoding the
taurine transporter TAUT is linked to early retinal
degeneration.},
cin = {ICS-6 / JSC / NIC},
ddc = {570},
cid = {I:(DE-Juel1)ICS-6-20110106 / I:(DE-Juel1)JSC-20090406 /
I:(DE-Juel1)NIC-20090406},
pnm = {511 - Computational Science and Mathematical Methods
(POF3-511) / Forschergruppe Gohlke $(hkf7_20170501)$},
pid = {G:(DE-HGF)POF3-511 / $G:(DE-Juel1)hkf7_20170501$},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:31345061},
UT = {WOS:000489166300075},
doi = {10.1096/fj.201900914RR},
url = {https://juser.fz-juelich.de/record/864224},
}