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Compatible with taurine's indispensability for cell volume homeostasis, protein stabilization, cytoprotection, antioxidation, and immuno\u2010 and neuromodulation, mice develop multisystemic dysfunctions (hearing loss; liver fibrosis; and behavioral, heart, and skeletal muscle abnormalities) later on. Here, by genetic, cell biologic,\n                    <jats:italic>in vivo<\/jats:italic>\n                    <jats:sup>1<\/jats:sup>\n                    H\u2013magnetic resonance spectroscopy and molecular dynamics simulation studies, we conducted in\u2010depth characterization of a novel disorder: human TAUT deficiency. Loss of TAUT function due to a homozygous missense mutation caused panretinal degeneration in 2 brothers. TAUT\n                    <jats:sub>p.A78E<\/jats:sub>\n                    still localized in the plasma membrane but is predicted to impact structural stabilization.\n                    <jats:sup>3<\/jats:sup>\n                    H\u2010taurine 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\u2010oxo\u20107,8\u2010dihydroguanosine indicated generally enhanced (yet clinically unapparent) oxidative stress and RNA oxidation, warranting continuous broad surveillance.\u2014Preising, M. N., G\u00f6rg, B., Friedburg, C., Qvartskhava, N., Budde, B. S., Bonus, M., Toliat, M. R., Pfleger, C., Altm\u00fcller, J., Herebian, D., Beyer, M., Z\u00f6llner, H. J., Wittsack, H.\u2010J., Schaper, J., Klee, D., Zechner, U., N\u00fcrnberg, P., Schipper, J., Schnitzler, A., Gohlke, H., Lorenz, B., H\u00e4ussinger, D., Bolz, H. J. Biallelic mutation of human\n                    <jats:italic>SLC6A6<\/jats:italic>\n                    encoding the taurine transporter TAUT is linked to early retinal degeneration. FASEB J. 33, 11507\u201311527 (2019).\n                    <jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" xlink:href=\"http:\/\/www.fasebj.org\">www.fasebj.org<\/jats:ext-link>\n                  <\/jats:p>","DOI":"10.1096\/fj.201900914rr","type":"journal-article","created":{"date-parts":[[2019,7,25]],"date-time":"2019-07-25T20:04:37Z","timestamp":1564085077000},"page":"11507-11527","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":65,"title":["Biallelic mutation of human\n                    <i>SLC6A6<\/i>\n                    encoding the taurine transporter TAUT is linked to early retinal degeneration"],"prefix":"10.1096","volume":"33","author":[{"given":"Markus N.","family":"Preising","sequence":"first","affiliation":[{"name":"Department of Ophthalmology Justus-Liebig University Giessen Giessen 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