BiochemistryBiochimica et Biophysica Acta (BBA) - Molecular Basis of DiseasePeer-reviewed
Pathogenesis of mtDNA point mutation m.10191T>C affecting complex I function is a multifactorial process leading to metabolic remodeling of mitochondria
Zeinab Alsadat Ahmadi, Alfredo Cabrera‐Orefice, Marta Zaninello…·Ulrich Brandt
The paper investigates the pathogenic mutation m.10191T>C in mitochondrial DNA, showing it leads to reduced complex I function and NADH accumulation, contributing to Leigh syndrome.