Loss of Huntingtin-Mediated BDNF Gene Transcription in Huntington's Disease

@article{Zuccato2001LossOH,
  title={Loss of Huntingtin-Mediated BDNF Gene Transcription in Huntington's Disease},
  author={C. Zuccato and A. Ciammola and D. Rigamonti and B. Leavitt and D. Goffredo and L. Conti and M. MacDonald and R. Friedlander and V. Silani and M. Hayden and T. Timmusk and S. Sipione and E. Cattaneo},
  journal={Science},
  year={2001},
  volume={293},
  pages={493 - 498}
}
Huntingtin is a 350-kilodalton protein of unknown function that is mutated in Huntington's disease (HD), a neurodegenerative disorder. The mutant protein is presumed to acquire a toxic gain of function that is detrimental to striatal neurons in the brain. However, loss of a beneficial activity of wild-type huntingtin may also cause the death of striatal neurons. Here we demonstrate that wild-type huntingtin up-regulates transcription of brain-derived neurotrophic factor (BDNF), a pro-survival… Expand
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  • Biology, Medicine
  • International journal of biomedical science : IJBS
  • 2011
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TLDR
The HD defect in man does not mimic complete or partial Hdh inactivation and appears to cause neurodegenerative disease by a gain-of-function mechanism. Expand
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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. Expand
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TLDR
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TLDR
It is demonstrated that mutant huntingtin directly or indirectly reduces the expression of a distinct set of genes involved in signaling pathways known to be critical to striatal neuron function. Expand
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TLDR
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TLDR
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TLDR
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TLDR
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