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. 2017 Oct 19;9(12):1742–1762. doi: 10.15252/emmm.201708191

Figure 6. Phenogenetic correlation of neurons in neurodegenerative and neurodevelopmental disorders.

Figure 6

Representative treemaps of genes linked to neurodegenerative and neurodevelopmental diseases show significant molecular alterations at the neuronal level, reflecting the presence of reported cellular phenotypes and therefore high phenogenetic correlation.
  • A
    Downregulated functional annotation of neurons with mutant SMN1.
  • B, C
    (B) Downregulated and (C) upregulated functional annotations of neurons with mutated SNCA show decreased expression of SUV39H1, a regulator of neuronal survival (Liu et al, 2005), and upregulation of AGPS, a gene involved in lipid biosynthesis (Brites et al, 2004), respectively.
  • D, E
    Neurons containing DISC1 mutations show (D) downregulation of genes associated with neurogenesis, like OTX2 (Puelles et al, 2004), and (E) upregulation of gene expression, including NEDD4L, related to neurotransmission (Laedermann et al, 2013).