Oct 2026
Bi-Allelic PRKCZ Loss-of-Function Variants and Adult-Onset Retinitis Pigmentosa.
Viviana Cordeddu, Riccardo Sangermano, Sterre W. M. Mulder et al.
· JAMA ophthalmology · 0 citations
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Open access
Aug 2026
Phenotype variability in six new patients with beta-mannosidosis.
Analysis of six new cases of beta-mannosidosis highlights marked phenotypic variability with no clear genotype-phenotype correlation and early screening may enable prompt diagnosis, improve management, and support future therapeutic development.
Madelyn Olivas, C.N. Romano, Angela Martin et al.
· Molecular Genetics and Metab... · 0 citations
Open access
Jul 2026
A peripheral subpopulation of retinal pigment epithelium resists oxidative damage through SERPINE3-mediated caspase-1 inhibition
A peripheral RPE subpopulation is identified through spatial, transcriptomic, and functional analyses, thereby contributing to the understanding of the heterogeneity of degenerative RPE cells and highlighting SERPINE3 as a protective factor with therapeutic potential for macular atrophy.
Hui-Rong Li, Takerra K. Johnson-Stephenson, Vincent P. Kunze et al.
· Journal of Clinical Investig... · 0 citations