Open access
Oct 2026
RMND1 dysfunction causes OXPHOS deficiency and alters mitoribosomal protein homeostasis in vivo.
Pathogenic, bi-allelic variants in RMND1 typically manifest as an early-onset multisystemic mitochondrial disease, yet the consequences of RMND1 dysfunction in vivo remain poorly understood. To answer this question, we generated and characterized the first in vivo model of RMND1-related disease, carrying the recurrent...
Alba Pesini, M. Sánchez-Quintero, C. López-Gómez et al.
· EMBO Molecular Medicine · 0 citations