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Impaired ABCA1/ABCG1-mediated lipid efflux in the mouse retinal pigment epithelium (RPE) leads to retinal degeneration.
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.
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Systemic gene therapy rescues retinal dysfunction and hearing loss in a model of Norrie disease.
Pauzuolyte V, Patel A, Wawrzynski JR, Ingham NJ, Leong YC, Karda R, Bitner-Glindzicz M, Berger W, Waddington SN, Steel KP, Sowden JC.
Pauzuolyte V, et al.
EMBO Mol Med. 2023 Oct 11;15(10):e17393. doi: 10.15252/emmm.202317393. Epub 2023 Aug 29.
EMBO Mol Med. 2023.
PMID: 37642150
Free PMC article.
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