Reference: SPP 1129 Abstract: Methyl-cytosine binding proteins (MeCPs) play a central role in the mediation of epigenetic effects. They bind to methylated sites in the DNA, recruit histone deacetylases (HDACs9 which may then cause chromatin condensation and transcriptional silencing. We have previously studied the dynamics of DNA replication in living mammalian cells using fluorescence labeling … Read more
Reference: 1F31MH078678n.a.1A2 Abstract: MeCP2 is a transcriptional repressor critical for normal neurological function. Rett syndrome (RTT) is a progressive neurodevelopmental disease caused by predominantly loss of function mutations in the X-linked gene encoding the transcriptional repressor, methyl-CpG-binding protein 2 (MECP2) genes. Classic RTT patients exhibit a spectrum of neurological phenotypes that include tremors, ataxia, seizures, … Read more
Reference: 5F31MH078678n.a.2 Abstract: MeCP2 is a transcriptional repressor critical for normal neurological function. Rett syndrome (RTT) is a progressive neurodevelopmental disease caused by predominantly loss of function mutations in the X-linked gene encoding the transcriptional repressor, methyl-CpG-binding protein 2 (MECP2) genes. Classic RTT patients exhibit a spectrum of neurological phenotypes that include tremors, ataxia, seizures, … Read more
Reference: 01GM0811 TIB Abstract: Although the biochemical function of the proteins involved in this disorder is known, the pathophysiological mechanisms are still mysterious, stressing the need for synergy and multidisciplinarity. Because Rett syndrome could be reversible, it is a priority to combine all possible approaches understand disease mechanisms. This could allow the rapid translation of … Read more
Reference: Abstract: Functional studies of CDKL5 implicated in an X-linked intellectual disability syndrome with early onset epileptic encelopathy. We have shown that mutations in the X-linked gene CDKL5/STK9 are a significant cause of a severe neurodevelopmental disorder (previously called atypical Rett syndrome (RTT) or variant of RTT), which affects predominantly girls (Kalscheuer et al, Am … Read more
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