Protein Aggregation and Human Disorders


The deposition of insoluble proteinaceous material is a distinct pathological process associated with a broad range of disparate diseases. Modulating the self‐aggregation of the proteins that form these deposits has emerged as a major therapeutic strategy for disease treatment.

Keywords: aggregation; amyloid; prion; fibrils; polyglutamine repeat


Atwood CS, Huang X, Moir RD, et al. (1997) Copper‐mediated aggregation and polymerization of Aβ. Society for Neuroscience Abstracts 23: 731.

Chiti F, Webster P, Taddei N, et al. (1999) Designing conditions for in vitro formation of amyloid protofilaments and fibrils. Proceedings of the National Academy of Sciences of the United States of America 96: 3590–3594.

Duda JE, Lee VM and Trojanowski JQ (2000) Neuropathology of synuclein aggregates. Journal of Neuroscience Research 61: 121–127.

Glenner GG and Wong CW (1984) Alzheimer's disease: initial report of the purification and characterization of a novel cerebrovascular amyloid protein. Biochemical and Biophysical Research Communications 120: 885–890.

Gusella JF, Wexler NS, Conneally PM, et al. (1983) A polymorphic DNA marker genetically linked to Huntington's disease. Nature 306: 234–238.

Lehmann S (2002) Metal ions in prion disease. Current Opinion in Chemical Biology 6: 187–192.

Prusiner SB (1982) Novel proteinaceous infectious particles cause scrapie. Science 216: 136–144.

Rosen DR (1993) Mutations in Cu/Zn superoxide dismutase gene are associated with familial amylotrophic lateral sclerosis. Nature 364: 362.

Takemoto L and Boyle D (1998) The possible role of alpha‐crystallins in human senile cataractogenesis. International Journal of Biological Macromolecules 22: 331–337.

Tanzi RE and Hyman BT (1991) Alzheimer's mutation. Nature 350: 564.

Further Reading

Benson MD (1993) Hereditary amyloidosis. In: Conneally PM (ed.) Molecular Basis of Neurology, 1st edn. Boston, MA: Blackwell Scientific Publications.

Dobson CM (2001) The structural basis of protein folding and its links with human disease. Philosophical Transactions of the Royal Society of London B Biological Science 356: 133–145.

Prusiner SB (2001) Shattuck lecture – neurodegenerative diseases and prions. New England Journal of Medicine 344: 1516–1526.

Raso SW and King JK (1997) Protein folding and human disease. In: Pain RH (ed.) Mechanisms of Protein Folding, 2nd edn, pp. 406–428. New York, NY: Oxford University Press.

Tanzi RE and Parson AB (2000) Decoding Darkness, 1st edn. Cambridge, UK: Perseus Books.

Wetzel RE (1999) Amyloid, Prions and Other Protein Aggregates. New York, NY: Academic Press.

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Moir, Robert D, and Tanzi, Rudolph E(Jan 2006) Protein Aggregation and Human Disorders. In: eLS. John Wiley & Sons Ltd, Chichester. [doi: 10.1038/npg.els.0005496]