Loss of normal huntingtin function: new developments in Huntington's disease research.
Trends Neurosci
; 24(3): 182-8, 2001 Mar.
Article
em En
| MEDLINE
| ID: mdl-11182459
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.
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Base de dados:
MEDLINE
Assunto principal:
Proteínas Nucleares
/
Doença de Huntington
/
Mutação
/
Proteínas do Tecido Nervoso
Limite:
Animals
/
Humans
Idioma:
En
Ano de publicação:
2001
Tipo de documento:
Article