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BackgroundLoss of tectonin β-propeller repeat-containing 2 (TECPR2) function has been implicated in an array of neurodegenerative disorders, yet its physiological function remains largely unknown. Understanding TECPR2 function is... more
BackgroundLoss of tectonin β-propeller repeat-containing 2 (TECPR2) function has been implicated in an array of neurodegenerative disorders, yet its physiological function remains largely unknown. Understanding TECPR2 function is essential for developing much needed precision therapeutics for TECPR2-related diseases.MethodsWe leveraged considerable amounts of functional data to obtain a comprehensive perspective of the role of TECPR2 in health and disease. We integrated expression patterns, population variation, phylogenetic profiling, protein-protein interactions and regulatory network data for a minimally biased multimodal functional analysis. Genes and proteins linked to TECPR2 via multiple lines of evidence were subject to functional enrichment analyses to identify molecular mechanisms involving TECPR2.ResultsTECPR2 was found to be part of a tight neurodevelopmental gene expression programme that includes KIF1A, ATXN1, TOM1L2 and FA2H, all implicated in neurological diseases. Fu...
Research Interests:
Research Interests:
Additional file 1. Results and discussion of supplementary analyses. Supplementary Table 1. AQ subscales analyses. Supplementary Table 2. TAS-20 subscales analyses. Supplementary Table 3. Combined empathy score analyses. Supplementary... more
Additional file 1. Results and discussion of supplementary analyses. Supplementary Table 1. AQ subscales analyses. Supplementary Table 2. TAS-20 subscales analyses. Supplementary Table 3. Combined empathy score analyses. Supplementary Table 4. Concurrent group analyses. Supplementary Figure 1. Further analyses of the AQ and TAS-20 subscales based on IRI-derived ED groups. Supplementary Figure 2. Further analyses of the AQ subscales based on EQ-derived ED groups.
Background. Features of autism spectrum conditions (ASC) are normally distributed within the population, giving rise to the notion of the autistic spectrum. One of the hallmark features of ASC is difficulties in social communication,... more
Background. Features of autism spectrum conditions (ASC) are normally distributed within the population, giving rise to the notion of the autistic spectrum. One of the hallmark features of ASC is difficulties in social communication, which relies heavily on our ability to empathize with others. Empathy comprises of both cognitive (CE) and emotional (EE) components that, together, allow us to understand another's emotions and be affected by them appropriately, while maintaining a self-other distinction. Although CE and EE depend on distinct neural and developmental trajectories, it was suggested that the two empathic capacities can influence, balance, and regulate each other. Previous findings regarding the role of emotional and cognitive empathy in ASC have been mixed. Therefore, our study aimed to investigate whether the intra-personal empathy imbalance between the cognitive and emotional components, a measure we termed empathic disequilibrium (ED), can be associated with autis...