TY - JOUR AU - Seabra, Catarina M. AU - Aneichyk, Tatsiana AU - Erdin, Serkan AU - Tai, Derek J. C. AU - De Esch, Celine E. F. AU - Razaz, Parisa AU - An, Yu AU - Manavalan, Poornima AU - Ragavendran, Ashok AU - Stortchevoi, Alexei AU - Abad, Clemer AU - Young, Juan I. AU - Maciel, Patricia AU - Talkowski, Michael E. AU - Gusella, James F. PY - 2020 DA - 2020/06/05 TI - Transcriptional consequences of MBD5 disruption in mouse brain and CRISPR-derived neurons JO - Molecular Autism SP - 45 VL - 11 IS - 1 AB - MBD5, encoding the methyl-CpG-binding domain 5 protein, has been proposed as a necessary and sufficient driver of the 2q23.1 microdeletion syndrome. De novo missense and protein-truncating variants from exome sequencing studies have directly implicated MBD5 in the etiology of autism spectrum disorder (ASD) and related neurodevelopmental disorders (NDDs). However, little is known concerning the specific function(s) of MBD5. SN - 2040-2392 UR - https://doi.org/10.1186/s13229-020-00354-1 DO - 10.1186/s13229-020-00354-1 ID - Seabra2020 ER -