Catarina Maria Quinzii

RMND1 dysfunction causes OXPHOS deficiency and alters mitoribosomal protein homeostasis in vivo

Abstract 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...