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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},
}