NDUFS4 deletion triggers loss of NDUFA12 in Ndufs4(-/-) mice and Leigh syndrome patients: A stabilizing role for NDUFAF2

Adjobo-Hermans, MJW; de Haas, R; Willems, PHGM; Wojtala, A; van Emst-de Vries, SE; Wagenaars, JA; van den Brand, M; Rodenburg, RJ; Smeitink, JAM; Nijtmans, LG; Sazanov, LA; Wieckowski, MR; Koopman, WJH

Wieckowski, MR (corresponding author), Nencki Inst Expt Biol, Pasteur 3, Warsaw, Poland.; Koopman, WJH (corresponding author), Radboud Univ Nijmegen, Radboudumc, Radboud Inst Mol Life Sci RIMLS, Dept Biochem 286,Med Ctr, POB 9101, NL-6500 HB Nijmegen, Netherlands.

BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS, 2020; 1861 (8):

Abstract

Mutations in NDUFS4, which encodes an accessory subunit of mitochondrial oxidative phosphorylation (OXPHOS) complex I (CI), induce Leigh syndrome (LS)......

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