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Author

José M. Millán

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Open access Aug 2026

Clinical and molecular features of PRCD-associated retinopathy.

PURPOSE To describe the clinical and genetic characteristics of patients with biallelic disease-causing variants in the PRCD (Progressive Rod-Cone Degeneration) gene. METHODS Multicentre, retrospective cohort study of 19 patients from 13 families across nine reference centres in six countries. Clinical assessments in...

V. Kostin, Karolina Kaminska, M. Cattaneo et al. · 0 citations
Open access Aug 2026

Generation of isogenic gene-corrected cell lines from a USH2A-RP patient-derived iPS cell line.

Comparative studies using induced pluripotent stem cells (iPSCs) from patients with those from healthy individuals as controls are flawed by genetic background contribution to disease phenotype. Here, we used precise gene editing to generate gene-corrected isogenic control lines for a single pathogenic variant in the U...

Verónica del Buey Furió, Belén García-Bohórquez, G. García-García et al. · 0 citations
Open access Jul 2026

Missense variants in KATNA1 alter microtubule dynamics and underlie dominant macular dystrophy

KATNA1 is established as a novel gene associated with adMD, possibly accounting for ~4% of all unresolved MD cases, and associate defective microtubule severing and cytoskeletal dysregulation with macular degeneration.

Carlo Rivolta, Karolina Kaminska, Abigail R. Moye et al. · 0 citations

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