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. 2013 Aug 3;71(3):405–418. doi: 10.1007/s00018-013-1433-y

Table 1.

Summary of key proteins discussed in this review and their related diseases or neurological phenotypes

Categories Molecular mechanisms Related diseases or phenotypes References
DNMTs DNMT1 mutations Hereditary sensory and autonomic neuropathy type 1 (HSAN1); autosomal dominant cerebellar ataxia, deafness, and narcolepsy (ADCA-DN) [5456]
DNMTs DNMT3a functional mutations or deletions Acquisition of developmental mental defects; impaired postnatal neurogenesis [46]
DNMTs DNMT3b mutations The immunodeficiency, centromere instability, facial anomalies (ICF) syndrome [51, 57, 58]
MBPs MBD1 deletions Reduced neuronal differentiation and increased genomic instability. [64, 65]
MBPs MeCP2 mutations or overexpression Rett syndrome (RTT); mental retardation, autism, and psychiatric symptoms [6678]
Methylatable CGG repeats CGG methylation on FMR1 genes Fragile X mental retardation syndrome (FXS); fragile X tremor ataxia syndrome (FXTAS) [51, 8891]
TETs TET2 mutations Leukemia; loss of 5hmC [114, 135137]
5mC excision Gadd45b deletion Induced proliferation of NPCs and dendritic growth of newborn neurons; loss of 5hmC [113]
TET co-factors IDH deletions or mutations Various cancer types; loss of 5hmC [115118]
TET co-factors Ogt overexpression Elevation of neurons exhibiting axon branching and the numbers of axonal filopodia [122]