Several neurological diseases are characterized by the altered activity of one or a few ubiquitously expressed cell proteins, but it is not known how these normal proteins turn into harmful executors of selective neuronal cell death. We selected huntingtin in Huntington's disease to explore this question because the dominant inheritance pattern of the disease seems to exclude the possibility that the wild-type protein has a role in the natural history of this condition. However, even in this extreme case, there is considerable evidence that normal huntingtin is important for neuronal function and that the activity of some of its downstream effectors, such as brain-derived neurotrophic factor, is reduced in Huntington's disease.

Normal huntingtin function: an alternative approach to Huntington's disease / E. Cattaneo, C. Zuccato, M. Tartari. - In: NATURE REVIEWS. NEUROSCIENCE. - ISSN 1471-003X. - 6:12(2005), pp. 919-930. [10.1038/nrn1806]

Normal huntingtin function: an alternative approach to Huntington's disease

E. Cattaneo
Primo
;
C. Zuccato
Secondo
;
M. Tartari
Ultimo
2005

Abstract

Several neurological diseases are characterized by the altered activity of one or a few ubiquitously expressed cell proteins, but it is not known how these normal proteins turn into harmful executors of selective neuronal cell death. We selected huntingtin in Huntington's disease to explore this question because the dominant inheritance pattern of the disease seems to exclude the possibility that the wild-type protein has a role in the natural history of this condition. However, even in this extreme case, there is considerable evidence that normal huntingtin is important for neuronal function and that the activity of some of its downstream effectors, such as brain-derived neurotrophic factor, is reduced in Huntington's disease.
Huntington chorea; apoptosis; downstream processing; human; nerve cell necrosis; nonhuman; priority journal; protein expression; protein function; protein structure; review; wild type; brain derived neurotrophic factor; huntingtin
Settore BIO/14 - Farmacologia
2005
Article (author)
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2434/10355
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