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Our research focuses on studies of the molecular mechanisms responsible for inherited forms of retinal degeneration causing devastating loss of vision in affected individuals. Our efforts have contributed to the identification of disease genes whose mutations result in early and severe forms of retinal degeneration. Normally these genes are expressed in the retina and retinal pigment epithelium, and encode proteins necessary for the function and survival of the light absorbing rod and cone photoreceptor cells. Disease-associated mutations disrupt cellular processes including the metabolism of vitamin A needed to produce the light-absorbing chromophore 11-cis retinal, the phagocytic uptake of membrane debris from the subretinal space, and the structure and lipid composition of the photoreceptor cells. Our ongoing research focuses on analysis of the normal function and pathogenic mechanisms associated with these genetic defects, in studies involving biochemical assays of protein function and enzyme activity in vitro, and phenotypic characterization of mouse and rat models corresponding to human forms of disease. We are using this information to develop novel strategies for therapeutic intervention that we are testing in preclinical trials.
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论文共 114 篇作者统计合作学者相似作者
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Paloma B. Liton,Kathleen Boesze‐Battaglia,Michael E. Boulton,Patricia Boya, T. Ferguson,Ian G. Ganley, Anu Kauppinnen,Gordon W. Laurie,Noboru Mizushima,Hideaki Morishita,Rossella Russo, Jaya Sadda,
Autophagy Reportsno. 1 (2023)
Autophagy reportsno. 1 (2023)
HUMAN GENE THERAPYno. 13-14 (2023): 639-648
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCEno. 8 (2023)
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Kecia L Feathers,Lin Jia, Nirosha Dayanthi Perera, Adrienne Chen,Feriel K Presswalla,Naheed W Khan,Abigail T Fahim,Alexander J Smith,Robin R Ali,Debra A Thompson
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