From mRNP trafficking to spine dysmorphogenesis: the roots of fragile X syndrome.
The mental retardation protein FMRP is involved in the transport of mRNAs and their translation at synapses. Patients with fragile X syndrome, in whom FMRP is absent or mutated, show deficits in learning and memory that might reflect impairments in the translational regulation of a subset of neuronal mRNAs. The study of FMRP provides important insights into the regulation and functions of local protein synthesis in the neuronal periphery, and increases our understanding of how these functions can produce specific effects at individual synapses.
Bagni
Claudia
C
Dipartimento di Biologia, Università di Roma Tor Vergata, Via della Ricerca Scientifica 1, Roma, Italy. claudia.bagni@uniroma2.it
Greenough
William T
WT
D000818:Animals; D051860:Fragile X Messenger Ribonucleoprotein 1; D005600:Fragile X Syndrome / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D006801:Humans; D009419:Nerve Tissue Proteins / Q000172:deficiency* / Q000235:genetics* / Q000502:physiology; D021381:Protein Transport / Q000235:genetics; D016601:RNA-Binding Proteins / Q000235:genetics* / Q000502:physiology; D012261:Ribonucleoproteins / Q000235:genetics / Q000378:metabolism*; D013116:Spinal Cord / Q000002:abnormalities* / Q000378:metabolism*
D051860:Fragile X Messenger Ribonucleoprotein 1; D009419:Nerve Tissue Proteins; D016601:RNA-Binding Proteins; D012261:Ribonucleoproteins; C497683:FMR1 protein, human; C026452:messenger ribonucleoprotein