References

Huntingtin and Huntington's Disease

This website was created as a project for Genetics 677 at UW-Madison in the spring of 2009

Introduction

1. Gellera, C; Meoni, C; Castellotti, B; Zappacosta, B; Girotti, F; Taroni, F; DiDonato, S. (1996). "Errors in Huntington disease diagnostic test caused by trinucleotide repeat in the IT15 gene." (Letter) Am. J. Hum. Genet. 59:475-577. Retrieved from: http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pubmed&pubmedid=8755937
2. Rigamonte, D; Bauer, JH; De-Fraja, C; Conti, L; Sipione, S; Sciorati, C; Clemente, E; Hackam, A; Hayden, MR; Li, Y; Cooper, JH; Ross, CA; Govoni, S; Vincenze, C; Cattaneo, E. (2000). "Wild-type huntingtin protects from apoptosis upstream of caspase-3." J Neurosci. May 15;20(10):3705-13. Retrieved from: http://www.jneurosci.org/cgi/content/full/20/10/3705
3. Walker, FO. "Huntington's Disease." Lancelet 369(9557):218-28, 2007. doi:10.1016/S0140-6736(07)60111-1
4. Rubenzstein, D; Leggo, J; Coles, R; Almqvist, E. (1996). "Phenotypic Characterization of Individuals with 30–40 CAG Repeats in the Huntington Disease (HD) Gene Reveals HD Cases with 36 Repeats and Apparently Normal Elderly Individuals with 36–39 Repeats." Am J Hum Genet. July; 59(1) 16-22. Retrieved from: http://www.ncbi.nlm.nih.gov/sites/entrez?filters=&orig_db=PubMed&db=pubmed&cmd=Search&term=59*[volume]%20AND%2016[page]%20AND%201996[pdat]%20AND%20Rubinsztein%20DC[auth]
5. Mattson, M, (2002). "Huntington's disease: Accomplices to neuronal death." Nature 415, 377-379. doi:10.1038/415377a

DNA Analysis

(1) Duret, L., Perrière, G. and Gouy, M. (1999) "HOVERGEN: database and software for comparative analysis of homologous vertebrate genes". In Bioinformatics Databases and Systems, Letovsky, S. (ed.), Kluwer Academic Publishers, Boston, pp. 13-29.

(2) Dufayard J.F., Duret L., Penel S., Gouy M., Rechenmann F. and Perrière G. (2005) "Tree pattern matching in phylogenetic trees: automatic search for orthologs or paralogs in homologous gene sequence databases" Bioinformatics, vol. 21 pp.2596-2603

Protein Domains

1. Bork,P;Andrade,MA.1995. "HEAT repeats in Huntington's Disease Protein." Nat Genet. Oct. 11 (2) 115-6. doi:10.1038/ng1095-115

Phenotypes

(1) Lumsden et al. 2007. Huntingtin deficient zebrafish exhibit defects in iron utilization and development. Human Molecular Genetics Vol. 16, No. 16. 1905-1920. doi:10.1093/hmg/ddm138

Gene Ontology

1) Saudou et. al 1998. Huntingtin acts in the nucleus to induce apoptosis but death does not correlate with the formation of intranuclear inclusions. Cell 95(1):55-66.doi:10.1016/S0092-8674(00)81782-1
(2) Nasir et al. 1995. Targeted disruption of the Huntington's disease gene results in embryonic lethality and behavioral and morphological changes in heterozygotes. Cell 81(5):811-23. doi:10.1016/0092-8674(95)90542-1
(3) Sahlender et al. 2005. Optineurin links myosin VI to the Golgi complex and is involved in Golgi organization and exocytosis. J Cell Bio 169(2)285-95. doi:10.1083/jcb.200501162
(4) Gutekunst et al. 1995. Identification and localization of huntingtin in brain and human lymphoblastoid cell lines with anti-fusion protein antibodies. PNAS 92(19) . Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/7568002
(5) Steffan et al. 2000. The Huntington's disease protein interacts with p53 and CREB-binding protein and represses transcription. PNAS 97(12):6763-8. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/10823891

Protein Structure

(1) Scott, DL. Three-dimensional homology model of huntingtin residues 201- 327. http://www.pdb.org/pdb/results/modelResults.cgi
(2) Scott, DL. Three-dimensional homology model of huntingtin residues 201- 327. http://www.ebi.ac.uk/pdbsum/2D3X

Microarray Data

(1) Lee JM, Ivanova EV, Seong IS, Cashorali T et al. 2007 Unbiased gene expression analysis implicates the huntingtin polyglutamine tract in extra-mitochondrial energy metabolism. PLoS Genet (8):e135. doi: 10.1371/journal.pgen.0030135
(2) Hodges, et al. 2008 Brain gene expression correlates with changes in behavior in the R6/1 mouse model of Huntington's disease. Genes Brain Behav 7(3). doi:10.1111/j.1601-183X.2007.00350.x
(3) Hodges et al. 2006. Regional and cellular gene expression changes in human Huntington's disease brain. Human Molecular Genetics 15(6) 965-977. doi:10.1093/hmg/ddl013

Protein Interactions

Small Molecules

(1) Mievis, et al. 2007. Lack of minocycline efficiency in genetic models of Huntington's disease. Neuromolecular Med. 9(1) 47-54. Accessed from: http://www.ncbi.nlm.nih.gov/pubmed/17114824?ordinalpos=3&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DefaultReportPanel.Pubmed_RVDocSum
(2) Masuda et al 2008. Tiagabine is neuroprotective in the N171-82Q and R6/2 mouse models of Huntington's disease. Neurobiol Dis 30(3) doi:10.1016/j.nbd.2008.01.014

Post translational modifications

1. Warby, SC et al. 2005. Huntingtin phosphorylation on serine 421 is significantly reduced in the striatum and by polyglutamine expansion in vivo. Hum Mol Genet. 14(11) 1569-77. doi:10.1093/hmg/ddi165

Created by Eric Nickels [email protected] 5/9/2009 Genetics 677 Webpage