Ontology highlight
ABSTRACT:
ORGANISM(S): Homo sapiens
SUBMITTER: Manuel Ascano
PROVIDER: E-GEOD-39686 | biostudies-arrayexpress |
REPOSITORIES: biostudies-arrayexpress
Ascano Manuel M Mukherjee Neelanjan N Bandaru Pradeep P Miller Jason B JB Nusbaum Jeffrey D JD Corcoran David L DL Langlois Christine C Munschauer Mathias M Dewell Scott S Hafner Markus M Williams Zev Z Ohler Uwe U Tuschl Thomas T
Nature 20121212 7429
Fragile X syndrome (FXS) is a multi-organ disease that leads to mental retardation, macro-orchidism in males and premature ovarian insufficiency in female carriers. FXS is also a prominent monogenic disease associated with autism spectrum disorders (ASDs). FXS is typically caused by the loss of fragile X mental retardation 1 (FMR1) expression, which codes for the RNA-binding protein FMRP. Here we report the discovery of distinct RNA-recognition elements that correspond to the two independent RNA ...[more]