Putting huntingtin "aggregation" in view with windows into the cellular milieu

DM Hatters

Journal article

Putting huntingtin "aggregation" in view with windows into the cellular milieu

DM Hatters

Current Topics in Medicinal Chemistry | BENTHAM SCIENCE PUBL LTD | Published : 2012

DOI: 10.2174/1568026611212220013

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Abstract

Huntington's disease arises from CAG codon-repeat expansions in the Htt gene, which leads to a Htt gene product with an expanded polyglutamine (polyQ) sequence. The length of the polyQ expansion correlates with an increased tendency to form aggregates and clustering into micrometer-plus sized inclusion bodies in neurons and other cell types. Yet after nearly 20 years since the genetic basis for HD was identified, our knowledge of how polyQ-expanded Htt fragment aggregation relates to disease mechanisms remains fragmentary and controversial. Challenges remain in defining the aggregation process at the molecular level and how this process is influenced by, or influences cellular activities. In..

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University of Melbourne Researchers

Danny M Hatters Author

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Grants

Awarded by Australian National Health and Medical Research Council

Awarded by Australian Research Council

Funding Acknowledgements

This work was funded by grants to DMH (Australian National Health and Medical Research Council Project grant 566640, Australian Research Council Discovery grant DP120102763 and the Hereditary Disease Foundation). DMH is a Grimwade Fellow, supported by the Miegunyah Trust. We also thank Gillian Bates, Paul Muchowski and Marian DiFiglia for providing the data in Fig. 2 and 3.