Retinal pigment epithelium-specific CLIC4 mutant is a mouse model of dry age-related macular degeneration

Jen-Zen Chuang; Nan Yang; Nobuyuki Nakajima; Wataru Otsu; Cheng Fu; Howard Hua Yang; Maxwell Ping Lee; Armaan Fazal Akbar; Tudor Constantin Badea; Ziqi Guo; Afnan Nuruzzaman; Kuo-Shun Hsu; Joshua L. Dunaief; Ching-Hwa Sung

doi:10.1038/s41467-021-27935-9

Nature Communications (Jan 2022)

Retinal pigment epithelium-specific CLIC4 mutant is a mouse model of dry age-related macular degeneration

Jen-Zen Chuang,
Nan Yang,
Nobuyuki Nakajima,
Wataru Otsu,
Cheng Fu,
Howard Hua Yang,
Maxwell Ping Lee,
Armaan Fazal Akbar,
Tudor Constantin Badea,
Ziqi Guo,
Afnan Nuruzzaman,
Kuo-Shun Hsu,
Joshua L. Dunaief,
Ching-Hwa Sung

Affiliations

Jen-Zen Chuang: Department of Ophthalmology, Margaret M. Dyson Vision Research Institute, Weill Cornell Medicine
Nan Yang: Department of Ophthalmology, Margaret M. Dyson Vision Research Institute, Weill Cornell Medicine
Nobuyuki Nakajima: Department of Ophthalmology, Margaret M. Dyson Vision Research Institute, Weill Cornell Medicine
Wataru Otsu: Department of Ophthalmology, Margaret M. Dyson Vision Research Institute, Weill Cornell Medicine
Cheng Fu: Department of Ophthalmology, Margaret M. Dyson Vision Research Institute, Weill Cornell Medicine
Howard Hua Yang: The Laboratory of Cancer Biology and Genetics, Center for Cancer Research, National Cancer Institute, National Institutes of Health
Maxwell Ping Lee: The Laboratory of Cancer Biology and Genetics, Center for Cancer Research, National Cancer Institute, National Institutes of Health
Armaan Fazal Akbar: National Eye Institute, National institute of Health
Tudor Constantin Badea: National Eye Institute, National institute of Health
Ziqi Guo: Department of Ophthalmology, Margaret M. Dyson Vision Research Institute, Weill Cornell Medicine
Afnan Nuruzzaman: Department of Ophthalmology, Margaret M. Dyson Vision Research Institute, Weill Cornell Medicine
Kuo-Shun Hsu: Department of Ophthalmology, Margaret M. Dyson Vision Research Institute, Weill Cornell Medicine
Joshua L. Dunaief: FM Kirby Center for Molecular Ophthalmology, Scheie Eye Institute, Department of Ophthalmology, Perelman School of Medicine, University of Pennsylvania
Ching-Hwa Sung: Department of Ophthalmology, Margaret M. Dyson Vision Research Institute, Weill Cornell Medicine

DOI: https://doi.org/10.1038/s41467-021-27935-9
Journal volume & issue: Vol. 13, no. 1
pp. 1 – 14

Abstract

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Age-related macular degeneration (AMD) is a leading cause of blindness and is characterised by the accumulation of lipid deposits, called drusen. Here, the authors show that mice lacking chloride intracellular channel 4 in retinal pigment epithelium have defective lipid processing in the eye and pathological features mirroring human AMD, including drusen formation.

Published in Nature Communications

ISSN: 2041-1723 (Online)
Publisher: Nature Portfolio
Country of publisher: United Kingdom
LCC subjects: Science
Website: https://www.nature.com/ncomms/

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