Ontology highlight
ABSTRACT:
SUBMITTER: Lessel D
PROVIDER: S-EPMC7670403 | biostudies-literature | 2020 Nov
REPOSITORIES: biostudies-literature
Nature communications 20201116 1
ARGONAUTE-2 and associated miRNAs form the RNA-induced silencing complex (RISC), which targets mRNAs for translational silencing and degradation as part of the RNA interference pathway. Despite the essential nature of this process for cellular function, there is little information on the role of RISC components in human development and organ function. We identify 13 heterozygous mutations in AGO2 in 21 patients affected by disturbances in neurological development. Each of the identified single a ...[more]