Items where authors include "Kurzawa-Akanbi, M."

Article

Tsikandelova, R., Galo, E., Cerniauskas, E. et al. (18 more authors) (2024) Retinal cells derived from patients with DRAM2-dependent CORD21 dystrophy exhibit key lysosomal enzyme deficiency and lysosomal content accumulation. Stem Cell Reports, 19 (8). pp. 1107-1121. ISSN 2213-6711

Atkinson, R., Georgiou, M., Yang, C. et al. (29 more authors) (2024) PRPF8-mediated dysregulation of hBrr2 helicase disrupts human spliceosome kinetics and 5´-splice-site selection causing tissue-specific defects. Nature Communications, 15 (1). 3138. ISSN 2041-1723