Article

Geographic characterization of RPE structure and lipid changes in the PEX1-p.Gly844Asp mouse model for Zellweger spectrum disorder

2024-09-10

Abstract excerpt

Peroxisome Biogenesis Disorders-Zellweger Spectrum (PBD-ZSD) are a heterogenous group of autosomal recessive disorders caused by defects in PEX genes whose proteins are required for peroxisome assembly and function. Peroxisomes are ubiquitous organelles that play a critical role in complex lipid metabolism. Dysfunctional peroxisomes in ZSD cause multisystem effects, with progressive retinal degeneration (RD) lead...

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Literature Corpus work: eb430b68-a54a-5767-979e-ed29ac1c1a35
DOI: 10.1101/2024.09.05.611330

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