Spliceosome malfunction causes neurodevelopmental disorders with overlapping features
Dong Li, Qin Wang, Allan Bayat, Mark R. Battig et autres
Pre-mRNA splicing is a highly coordinated process. While its dysregulation has been linked to neurological deficits, our understanding of the underlying molecular and cellular mechanisms remains limited. We implicated pathogenic variants in U2AF2 and PRPF19, encoding spliceosome subunits in neurodevelopmental disorders (NDDs), …
us, gb, dk, nl, es, cz, ca, it, fr, de, jp (code pays fourni par la source)
46 citations
Journal of Clinical Investigation