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4 Significant enrichment of HD core transcription factors in iSPN mutant subpopulation

a mutation that affects mt-DNA encoded ATP synthase 6 (ATPase 6) gene, when present in low abundance only results in NARP (neurogenic muscle weakness, ataxia, and retinitis pigmentosa), while a high abundance of the same mutation results in MILS (Maternally Inherited Leighs Syndrome) with rapid lethalities (Iyer et al., 2012)

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Metabolic reprogramming in kidney diseases: evidence and therapeutic opportunities