Ontology highlight
ABSTRACT:
SUBMITTER: Gazy I
PROVIDER: S-EPMC7338602 | biostudies-literature | 2020
REPOSITORIES: biostudies-literature
Frontiers in cell and developmental biology 20200630
The Fragile-X related disorders (FXDs) are Repeat Expansion Diseases (REDs) that result from expansion of a CGG-repeat tract located at the 5' end of the <i>FMR1</i> gene. While expansion affects transmission risk and can also affect disease risk and severity, the underlying molecular mechanism responsible is unknown. Despite the fact that expanded alleles can be seen both in humans and mouse models <i>in vivo</i>, existing patient-derived cells do not show significant repeat expansions even aft ...[more]