Proteomics

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Complement factor B is critical for sub-RPE deposit formation in the Efemp1 R345W mutant mouse model with features of age-related macular degeneration

ABSTRACT: This dataset represent supplemental data for publication submitted to Human Molecular Genetics in 2022. Briefly, Efemp1 R345W is a protein misfolding-prone mutation in humans causing Doyne honeycomb retinal dystrophy/Mallatia Leventinese (DHRD/ML), a disease sharing similar clinical pathology with age-related macular degeneration (AMD). Efemp1R345W/R345W knock-in mice (Efemp1ki/ki mice) develop deposits on the basal side of retinal pigment epithelial (RPE) cells, which is complement C3- dependent. We assessed alternative complement pathway component factor B (Cfb) in sub-RPE deposit formation in Efemp1ki/ki mice.

INSTRUMENT(S): Orbitrap Fusion Lumos

ORGANISM(S): Mus Musculus (mouse)

TISSUE(S): Eye

DISEASE(S): Age Related Macular Degeneration

SUBMITTER: Tomas Rejtar  

LAB HEAD: Sha-Mei Liao

PROVIDER: PXD035772 | Pride | 2023-03-11

REPOSITORIES: Pride

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EFEMP1 R345W is a dominant mutation causing Doyne honeycomb retinal dystrophy/malattia leventinese (DHRD/ML), a rare blinding disease with clinical pathology similar to age-related macular degeneration (AMD). Aged Efemp1  R345W/R345W knock-in mice (Efemp1ki/ki) develop microscopic deposits on the basal side of retinal pigment epithelial cells (RPE), an early feature in DHRD/ML and AMD. Here, we assessed the role of alternative complement pathway component factor B (FB) in the formation of these  ...[more]

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