Functional characterization of TBR1 variants in neurodevelopmental disorder
Sign Up to like & getrecommendations! Published in 2018 at "Scientific Reports"
DOI: 10.1038/s41598-018-32053-6
Abstract: Recurrent de novo variants in the TBR1 transcription factor are implicated in the etiology of sporadic autism spectrum disorders (ASD). Disruptions include missense variants located in the T-box DNA-binding domain and previous work has demonstrated… read more here.
Keywords: tbr1 variants; functional characterization; protein function; tbr1 ... See more keywords
Characterization of the TBR1 interactome: variants associated with neurodevelopmental disorders disrupt novel protein interactions
Sign Up to like & getrecommendations! Published in 2022 at "Human Molecular Genetics"
DOI: 10.1093/hmg/ddac311
Abstract: Abstract TBR1 is a neuron-specific transcription factor involved in brain development and implicated in a neurodevelopmental disorder (NDD) combining features of autism spectrum disorder (ASD), intellectual disability (ID) and speech delay. TBR1 has been previously… read more here.
Keywords: tbr1; interaction; interactome variants; characterization tbr1 ... See more keywords