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CD2-associated protein haploinsufficiency is linked to glomerular disease susceptibility

  1. Author:
    Kim, J. M.
    Wu, H.
    Green, G.
    Winkler, C. A.
    Kopp, J. B.
    Miner, J. H.
    Unanue, E. R.
    Shaw, A. S.

  2. Author Address

    Washington Univ, Sch Med, Dept Pathol & Immunol, St Louis, MO 63110 USA Washington Univ, Sch Med, Dept Pathol & Immunol, St Louis, MO 63110 USA Washington Univ, Sch Med, Dept Internal Med, Div Renal, St Louis, MO 63110 USA NCI, Mol Epidemiol Sect, Lab Genom Divers, NIH, Frederick, MD 21702 USA NIDDKD, Kidney Dis Sect, NIH, Bethesda, MD 20892 USA Shaw AS Washington Univ, Sch Med, Dept Pathol & Immunol, St Louis, MO 63110 USA
    1. Year: 2003
  2. Journal: Science
    1. 300
    2. 5623
    3. Pages: 1298-1300
  4. Type of Article: Article
  1. Abstract:

    Loss of CD2-associated protein (CD2AP), a component of the filtration complex in the kidney, causes death in mice at 6 weeks of age. Mice with CD2AP haploin-sufficiency developed glomerular changes at 9 months of age and had increased susceptibility to glomerular injury by nephrotoxic antibodies or immune complexes. Electron microscopic analysis of podocytes revealed defects in the formation of multivesicular bodies, suggesting an impairment of the intracellular degradation pathway. Two human patients with focal segmental glomerulosclerosis had a mutation predicted to ablate expression of one CD2AP allele, implicating CD2AP as a determinant of human susceptibility to glomerular disease.

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