Compound heterozygous ZMPSTE24 mutations reduce prelamin A processing and result in a severe progeroid phenotype

J Med Genet. 2005 Jun;42(6):e36. doi: 10.1136/jmg.2004.029751.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Cell Nucleus / ultrastructure
  • Child, Preschool
  • DNA Mutational Analysis
  • Female
  • Heterozygote
  • Humans
  • Lamin Type A
  • Lipoproteins / genetics*
  • Membrane Proteins / genetics*
  • Metalloendopeptidases
  • Metalloproteases / genetics*
  • Nuclear Proteins / metabolism*
  • Phenotype
  • Progeria / diagnosis*
  • Progeria / genetics*
  • Progeria / ultrastructure
  • Protein Precursors / metabolism*

Substances

  • Lamin Type A
  • Lipoproteins
  • Membrane Proteins
  • Nuclear Proteins
  • Protein Precursors
  • prelamin A
  • Metalloproteases
  • Metalloendopeptidases
  • ZMPSTE24 protein, human

Associated data

  • OMIM/176670