GLI3 mutations in human disorders mimic Drosophila cubitus interruptus protein functions and localization.

@article{Shin1999GLI3MI,
  title={GLI3 mutations in human disorders mimic Drosophila cubitus interruptus protein functions and localization.},
  author={Sang Hak Shin and Priit Kogerman and Erika Lindstr{\"o}m and Rune Toftg{\aa}rd and Leslie G. Biesecker},
  journal={Proceedings of the National Academy of Sciences of the United States of America},
  year={1999},
  volume={96 6},
  pages={2880-4}
}
Truncation mutations of the GLI3 zinc finger transcription factor can cause Greig cephalopolysyndactyly syndrome (GCPS), Pallister-Hall syndrome (PHS), and postaxial polydactyly type A (PAP-A). GLI3 is homologous to Drosophila Cubitus interruptus (Ci), which regulates the patched (ptc), gooseberry (gsb), and decapentaplegic (dpp) genes. Ci is sequestered in the cytoplasm and is subject to posttranslational processing whereby the full-length transcriptional activator form (Ci155) can be cleaved… CONTINUE READING
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Shin et al

  • V. Knezevic, R. De Santo, +6 authors 4523– 4536. 2884 Genetics
  • Proc. Natl. Acad. Sci. USA 96
  • 1999

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