Toward a therapeutic strategy for polyalanine expansions disorders: In vivo and in vitro models for drugs analysis

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Abstract

Molecular pathogenesis of congenital disorders associated with polyalanine expansions has been investigated for several years. Despite different pathological hallmarks characterize each polyalanine disease, they share common features, mainly represented by aggregates containing the mutant proteins, usually mislocated inside the cellular compartments, along with ubiquitin and proteasome components. Recently, particular interest has been raised by investigations on molecules able to restore both correct localization and function of the expanded proteins. Here we report a list of drugs whose effects have been assayed both in in vitro and in vivo models of polyalanine disorders, such as the oculopharyingeal muscular dystrophy, congenital central hypoventilation syndrome, synpolydactyly and in cell and animal models carrying specific artificial mutations. In particular, we have reviewed, for each polyalanine mutant protein, the molecules tested, cellular models under investigation, drugs effects on aggregation and underlying mechanisms.

Original languageEnglish
Pages (from-to)449-452
Number of pages4
JournalEuropean Journal of Paediatric Neurology
Volume15
Issue number5
DOIs
Publication statusPublished - Sep 2011

Keywords

  • Disease models
  • Drugs analysis
  • Pharmacological therapy
  • Polyalanine expansions
  • Protein aggregates

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health

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