Yolanda De Diego Otero

TL;DR: The colocalization of the Fxr proteins in neurons is consistent with similar cellular functions in those specific cells, and the presence of the three proteins in the nucleus of hippocampal neurons suggests a nucleocytoplasmic shuttling for the FXr proteins.

TL;DR: This report is the first example of trafficking of RNA-containing granules with FMRP as a core constituent in living PC12 cells and shows that the movement of F MRP-GFP labeled granules into the neurites was microtubule dependent.

TL;DR: A new diagnostic test to identify male patients with fragile X syndrome, on the basis of lack of FMRP in their hair roots, is described, which enabled us to identify two fragile X patients who did not show the full mutation by analysis of DNA isolated from blood cells.

TL;DR: In this article, the absence of the fragile X mental retardation protein (FMRP) results in fragile X syndrome, where all males with a full mutation in the FMR1 gene and an inactive FMR 1 gene are mentally retarded while 60% of the females with full mutation are affected.

TL;DR: This descriptive study has performed immunolocalization of these proteins during the embryonic development of the mouse to get more insight in their physiological function and the results are discussed in relation to the pathogenesis of the fragile X syndrome.