Early lipid changes drive retinal degeneration in Zellweger spectrum disorder Lipid profiling in a rare disease mouse model reveals metabolic shifts and inflammation in the retinal pigment epithelium — offering promising biomarker leads to combat blindness.

#MolecularBiologyMonday | Lipid profiling in a rare disease mouse model reveals metabolic shifts and inflammation in the retinal pigment epithelium — offering promising biomarker leads to combat #blindness.

Learn more: ow.ly/YWQp50X0ysk.
#asbmbJLR #RareDisease #Zellwegerspectrumdisorder

Analyses leveraging large population datasets suggest potential undiagnosed patients with intermediate/mild phenotypes of PEX1-mediated #ZellwegerSpectrumDisorder and regional differences in variant landscape bit.ly/3FusVdh #GIMO #PopulationGenetics #PEX1 #MutationalBurdenEstimate