When enough is enough: Genetic diseases associated with transcriptional derepression

Davide Gabellini, Michael R. Green, Rossella Tupler

Research output: Contribution to journalArticle


For many human genetic diseases, the underlying genetic defect has been determined. Thus, although traditionally a field only for researchers in medicine or human genetics, human diseases are now opening up to molecular biologists, cell biologists and biochemists. Here we discuss four human genetic disorders, Familial Alzheimer's disease, Rett syndrome, Klippel - Trenaunay syndrome and Facioscapulohumeral muscular dystrophy, and how investigations into these diseases are providing important lessons about human biology.

Original languageEnglish
Pages (from-to)301-307
Number of pages7
JournalCurrent Opinion in Genetics and Development
Issue number3
Publication statusPublished - Jun 2004


  • amyloid β-protein
  • BDNF
  • brain-derived neurotrophic factor
  • CBP
  • CREB binding protein
  • Facioscapulohumeral muscular dystrophy
  • FAD3
  • Familial AD type 3
  • FSHD
  • Klippel-Trenaunay syndrome
  • KTS
  • MeCP2
  • methyl CpG-binding protein 2
  • PIC

ASJC Scopus subject areas

  • Genetics

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