Loss of normal huntingtin function: new developments in Huntington's disease research.

@article{Cattaneo2001LossON,
  title={Loss of normal huntingtin function: new developments in Huntington's disease research.},
  author={Elena Cattaneo and Dorotea Rigamonti and Donato Goffredo and Chiara Zuccato and Ferdinando Squitieri and Simonetta Sipione},
  journal={Trends in neurosciences},
  year={2001},
  volume={24 3},
  pages={182-8}
}
Huntington's disease is characterized by a loss of brain striatal neurons that occurs as a consequence of an expansion of a CAG repeat in the huntingtin protein. The resulting extended polyglutamine stretch confers a deleterious gain-of-function to the protein. Analysis of the mutant protein has attracted most of the research activity in the field, however re-examination of earlier data and new results on the beneficial functions of normal huntingtin indicate that loss of the normal protein… CONTINUE READING
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Huntington DiseaseAssociated with malfunction of gene productHD protein, human
Loss of normal huntingtin function : new developments in Huntington 's disease research .
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