From mRNP trafficking to spine dysmorphogenesis: the roots of fragile X syndrome

Nat Rev Neurosci. 2005 May;6(5):376-87. doi: 10.1038/nrn1667.

Abstract

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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • Animals
  • Fragile X Mental Retardation Protein
  • Fragile X Syndrome / genetics*
  • Fragile X Syndrome / metabolism
  • Fragile X Syndrome / pathology
  • Humans
  • Nerve Tissue Proteins / deficiency*
  • Nerve Tissue Proteins / genetics*
  • Nerve Tissue Proteins / physiology
  • Protein Transport / genetics
  • RNA-Binding Proteins / genetics*
  • RNA-Binding Proteins / physiology
  • Ribonucleoproteins / genetics
  • Ribonucleoproteins / metabolism*
  • Spinal Cord / abnormalities*
  • Spinal Cord / metabolism*

Substances

  • FMR1 protein, human
  • Nerve Tissue Proteins
  • RNA-Binding Proteins
  • Ribonucleoproteins
  • messenger ribonucleoprotein
  • Fragile X Mental Retardation Protein