Metazoan and microbial models of Niemann-Pick Type C disease

Biochim Biophys Acta. 2004 Oct 11;1685(1-3):38-47. doi: 10.1016/j.bbalip.2004.08.010.

Abstract

Niemann-Pick Type C (NP-C) disease compellingly provides insight into lipid transport and the association of this process with severe neuronal dysfunction. The two genes that define this syndrome, NPC1 and NPC2, are conserved throughout much of eukaryotic evolution, to the extent that the yeast and mammalian NPC1 genes are functionally interchangeable. We present here an evolutionary perspective of the genes defective in NP-C disease. We will describe how conservation of sequences and their biological roles in a variety of microbial and metazoan model systems may act as roadmaps to understanding this syndrome in humans.

Publication types

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

MeSH terms

  • Amino Acid Sequence
  • Animals
  • Caenorhabditis elegans Proteins / genetics
  • Caenorhabditis elegans Proteins / metabolism
  • Carrier Proteins / chemistry
  • Carrier Proteins / genetics
  • Carrier Proteins / metabolism
  • Conserved Sequence
  • Disease Models, Animal*
  • Drosophila Proteins / genetics
  • Drosophila Proteins / metabolism
  • Eukaryotic Cells
  • Evolution, Molecular
  • Fungal Proteins / genetics
  • Fungal Proteins / metabolism
  • Glycoproteins / chemistry
  • Glycoproteins / genetics
  • Glycoproteins / metabolism
  • Humans
  • Membrane Glycoproteins / chemistry
  • Membrane Glycoproteins / genetics
  • Membrane Glycoproteins / metabolism
  • Molecular Sequence Data
  • Niemann-Pick Diseases / genetics*
  • Niemann-Pick Diseases / metabolism*
  • Niemann-Pick Diseases / pathology
  • Protein Structure, Tertiary
  • Sequence Homology, Amino Acid

Substances

  • Caenorhabditis elegans Proteins
  • Carrier Proteins
  • Drosophila Proteins
  • Fungal Proteins
  • Glycoproteins
  • Membrane Glycoproteins
  • NPC1 protein, human
  • NPC2 protein, human