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  • The posttranslational processing of prelamin A and disease
  • Davies BS; Fong LG; Yang SH; Coffinier C; Young SG
  • Annu Rev Genomics Hum Genet 2009[]; 10 (): 153-74
  • Human geneticists have shown that some progeroid syndromes are caused by mutations that interfere with the conversion of farnesyl-prelamin A to mature lamin A. For example, Hutchinson-Gilford progeria syndrome is caused by LMNA mutations that lead to the accumulation of a farnesylated version of prelamin A. In this review, we discuss the posttranslational modifications of prelamin A and their relevance to the pathogenesis and treatment of progeroid syndromes.
  • |*Protein Processing, Post-Translational[MESH]
  • |Animals[MESH]
  • |Disease Models, Animal[MESH]
  • |Enzyme Inhibitors/therapeutic use[MESH]
  • |Farnesyltranstransferase/antagonists & inhibitors[MESH]
  • |Humans[MESH]
  • |Infant, Newborn[MESH]
  • |Lamin Type A[MESH]
  • |Nuclear Proteins/genetics/*metabolism[MESH]
  • |Progeria/drug therapy/genetics/*metabolism[MESH]
  • |Protein Precursors/genetics/*metabolism[MESH]





  • *{{pmid19453251}}
    *<b>[http://www.kidney.de/mlpefetch.php?search=19453251 The posttranslational processing of prelamin A and disease ]</b> Annu Rev Genomics Hum Genet 2009; 10() ; 153-74 Davies BS; Fong LG; Yang SH; Coffinier C; Young SG

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    Annu Rev Genomics Hum Genet

    153 .10 2009