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Impaired ABCA1/ABCG1-mediated lipid efflux in the mouse retinal pigment epithelium (RPE) leads to retinal degeneration.
Storti F, Klee K, Todorova V, Steiner R, Othman A, van der Velde-Visser S, Samardzija M, Meneau I, Barben M, Karademir D, Pauzuolyte V, Boye SL, Blaser F, Ullmer C, Dunaief JL, Hornemann T, Rohrer L, den Hollander A, von Eckardstein A, Fingerle J, Maugeais C, Grimm C. Storti F, et al. Among authors: pauzuolyte v. Elife. 2019 Mar 13;8:e45100. doi: 10.7554/eLife.45100. Elife. 2019. PMID: 30864945 Free PMC article.
The timing of auditory sensory deficits in Norrie disease has implications for therapeutic intervention.
Bryant D, Pauzuolyte V, Ingham NJ, Patel A, Pagarkar W, Anderson LA, Smith KE, Moulding DA, Leong YC, Jafree DJ, Long DA, Al-Yassin A, Steel KP, Jagger DJ, Forge A, Berger W, Sowden JC, Bitner-Glindzicz M. Bryant D, et al. Among authors: pauzuolyte v. JCI Insight. 2022 Feb 8;7(3):e148586. doi: 10.1172/jci.insight.148586. JCI Insight. 2022. PMID: 35132964 Free PMC article.