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

Elena Cattaneo, Dorotea Rigamonti, Donato Goffredo, Chiara Zuccato, Ferdinando Squitieri, Simonetta Sipione

Research output: Contribution to journalArticle

Abstract

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 function might actually equally contribute to the pathology. Thus, complete elucidation of the physiological role(s) of huntingtin and its mode of action are essential and could lead to new therapeutic approaches.

Original languageEnglish
Pages (from-to)182-188
Number of pages7
JournalTrends in Neurosciences
Volume24
Issue number3
DOIs
Publication statusPublished - Mar 1 2001

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Huntington Disease
Corpus Striatum
Mutant Proteins
Research
Proteins
Pathology
Neurons
Brain
Therapeutics
polyglutamine
Huntingtin Protein

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Loss of normal huntingtin function : New developments in Huntington's disease research. / Cattaneo, Elena; Rigamonti, Dorotea; Goffredo, Donato; Zuccato, Chiara; Squitieri, Ferdinando; Sipione, Simonetta.

In: Trends in Neurosciences, Vol. 24, No. 3, 01.03.2001, p. 182-188.

Research output: Contribution to journalArticle

Cattaneo, Elena ; Rigamonti, Dorotea ; Goffredo, Donato ; Zuccato, Chiara ; Squitieri, Ferdinando ; Sipione, Simonetta. / Loss of normal huntingtin function : New developments in Huntington's disease research. In: Trends in Neurosciences. 2001 ; Vol. 24, No. 3. pp. 182-188.
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