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.

Loss of normal huntingtin function: new developments in Huntington's Disease research / E. Cattaneo, D. Rigamonti, D. Goffredo, C. Zuccato, F. Squitieri, S. Sipione. - In: TRENDS IN NEUROSCIENCES. - ISSN 0166-2236. - 24:3(2001), pp. 182-188.

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

E. Cattaneo
Primo
;
D. Rigamonti
Secondo
;
D. Goffredo;C. Zuccato;
2001

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.
Settore BIO/14 - Farmacologia
2001
Article (author)
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2434/209313
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