Ontology highlight
ABSTRACT:
SUBMITTER: Zhang Z
PROVIDER: S-EPMC6317709 | biostudies-literature | 2018 Aug
REPOSITORIES: biostudies-literature
Zhang Zhenjie Z Marro Samuele G SG Zhang Yingsha Y Arendt Kristin L KL Patzke Christopher C Zhou Bo B Fair Tyler T Yang Nan N Südhof Thomas C TC Wernig Marius M Chen Lu L
Science translational medicine 20180801 452
Fragile X syndrome (FXS) is an X chromosome-linked disease leading to severe intellectual disabilities. FXS is caused by inactivation of the fragile X mental retardation 1 (<i>FMR1</i>) gene, but how <i>FMR1</i> inactivation induces FXS remains unclear. Using human neurons generated from control and FXS patient-derived induced pluripotent stem (iPS) cells or from embryonic stem cells carrying conditional <i>FMR1</i> mutations, we show here that loss of <i>FMR1</i> function specifically abolished ...[more]