Diverse functions and pathogenetic role of Crumbs in retinopathy

X Zhou, L Zhao, C Wang, W Sun, B Jia, D Li… - Cell Communication and …, 2024 - Springer
The Crumbs protein (CRB) family plays a crucial role in maintaining the apical–basal
polarity and integrity of embryonic epithelia. The family comprises different isoforms in …

Clinical and Therapeutic Evaluation of the Ten Most Prevalent CRB1 Mutations

B Lopes da Costa, M Kolesnikova, SR Levi, T Cabral… - Biomedicines, 2023 - mdpi.com
Mutations in the Crumbs homolog 1 (CRB1) gene lead to severe inherited retinal
dystrophies (IRDs), accounting for nearly 80,000 cases worldwide. To date, there is no …

A novel pathogenic CRB1 variant presenting as Leber Congenital Amaurosis 8 and evaluation of gene editing feasibility

MM Sylla, M Kolesinkova, BL da Costa… - Documenta …, 2023 - Springer
Abstract Introduction Leber Congenital Amaurosis (LCA) is an inherited retinal disease that
presents in infancy with severely decreased vision, nystagmus, and extinguished …

[PDF][PDF] Clinical and Therapeutic Evaluation of the Ten Most Prevalent CRB1 Mutations. Biomedicines 2023, 11, 385

BL da Costa, M Kolesnikova, SR Levi, T Cabral… - 2023 - researchgate.net
Mutations in the Crumbs homolog 1 (CRB1) gene lead to severe inherited retinal
dystrophies (IRDs), accounting for nearly 80,000 cases worldwide. To date, there is no …