C9orf72 regulates oxidative phosphorylation by stabilizing TIMMDC1, but C9orf72 haploinsufficiency and a loss of function lead to the reduced activity of mitochondrial complex I in C9orf72-ALS patient-derived neurons, directly or indirectly causing or exacerbating the disease [43]. This evidence concerns the gene C9orf72 and amyotrophic lateral sclerosis.