Céline Schaeffer

TL;DR: The identification and characterization of a specific and high affinity binding site for FMRP in the RGG‐coding region of its own mRNA is reported, which contains a purine quartet motif that is essential for F MRP binding and can be substituted by a heterologous quartet‐forming motif.

TL;DR: The findings point to uromodulin as a therapeutic target for lowering blood pressure and preserving renal function and the relevance of this mechanism in humans is demonstrated by showing that pharmacological inhibition of NKCC2 was more effective in lowering blood pressured patients who are homozygous for UMOD promoter risk variants than in other hypertensive patients.

TL;DR: The characterized FMRP binding site (FBS) within the FMR1 mRNA is characterized by a site directed mutagenesis approach and it is shown that the FBS is a potent exonic splicing enhancer in a minigene system.

TL;DR: The determination of the F GF-2 5′-ATR RNA secondary structure by enzymatic and chemical probing experiments showed that the FGF-2 IRES contained two stem-loop regions and a G quartet motif that constitute novel structural determinants of IRES function.

TL;DR: The molecular mechanism unraveled here points to a role for FMRP in modulation of actin dynamics, which is a key process in morphogenesis of dendritic spines, synaptic structures abnormally developed in Fragile X syndrome patient's brain.