Beyond the signal sequence: protein routing in health and disease

Endocr Rev. 2005 Jun;26(4):479-503. doi: 10.1210/er.2004-0010. Epub 2004 Nov 9.

Abstract

Receptors, hormones, enzymes, ion channels, and structural components of the cell are created by the act of protein synthesis. Synthesis alone is insufficient for proper function, of course; for a cell to operate effectively, its components must be correctly compartmentalized. The mechanism by which proteins maintain the fidelity of localization warrants attention in light of the large number of different molecules that must be routed to distinct subcellular loci, the potential for error, and resultant disease. This review summarizes diseases known to have etiologies based on defective protein folding or failure of the cell's quality control apparatus and presents approaches for therapeutic intervention.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Animals
  • Disease / etiology*
  • Endoplasmic Reticulum / metabolism
  • Golgi Apparatus / metabolism
  • Humans
  • Mitochondria / metabolism
  • Molecular Chaperones / physiology
  • Mutation
  • Nervous System Diseases / etiology
  • Protein Conformation
  • Protein Sorting Signals / physiology*
  • Proteins / chemistry
  • Proteins / genetics
  • Proteins / metabolism*
  • Receptors, G-Protein-Coupled

Substances

  • Molecular Chaperones
  • Protein Sorting Signals
  • Proteins
  • Receptors, G-Protein-Coupled