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  Methyl-CpG2-binding protein 2 mediates overlapping mechanisms across brain disorders 

  Tropea, Daniela (2020)

  MECP2 and its product, Methyl-CpG binding protein 2 (MeCP2), are mostly known for their association to Rett Syndrome (RTT), a rare neurodevelopmental disorder. Additional evidence suggests that MECP2 may underlie other ...
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  Functional network mapping reveals state-dependent response to IGF-1 treatment in Rett Syndrome 

  Tropea, Daniela (2020)

  Rett Syndrome (RTT) is a neurodevelopmental disorder associated with mutations in thegeneMeCP2, which is involved in the development and function of cortical networks. The clinical presentation of RTT is generally severe ...
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  Derivation of iPSC lines from three young healthy donors of Caucasian origin (NUIGi035-A; NUIGi036-A; NUIGi037-A) 

  Gallagher, Louise (2020)

  The induced pluripotent stem cell (iPSC) technology has offered an unprecedented opportunity for disease modelling and drug discovery. Here we used non-integrating Sendai viral method and derived iPSCs from three young ...
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  Coupling of autism genes to tissue-wide expression and dysfunction of synapse, calcium signalling and transcriptional regulation 

  Gallagher, Louise (2020)

  Autism Spectrum Disorder (ASD) is a heterogeneous disorder that is often accompanied with many co-morbidities. Recent genetic studies have identified various pathways from hundreds of candidate risk genes with varying ...
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  A framework for an evidence-based gene list relevant to autism spectrum disorder 

  Gallagher, Louise (2020)

  Autism spectrum disorder (ASD) is often grouped with other brain-related phenotypes into a broader category of neurodevelopmental disorders (NDDs). In clinical practice, providers need to decide which genes to test in ...

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