Concordant with protein hits identified in our proteome analysis, proteins involved in the mitochondrial OXPHOS pathway (Figure 3B) — ATP synthase peripheral stalk-membrane subunit b (ATP5F1), ATP synthase F1 subunit α (ATP5A), ATPase H+-transporting V1 subunit A (ATP6V1A), and cytochrome c1 (CYC1) — were found to be dysregulated in SMN–/– mouse hippocampal neuronal cells (54) and motor neurons in a mouse model of SMA (55). The gene discussed is ATP6V1A; the disease is proximal spinal muscular atrophy.