Molecular biology of Huntington's disease
作者： Karen N. Mcfarland , Jang-Ho J. Cha
DOI: 10.1016/B978-0-444-52014-2.00003-3
关键词:
摘要: It has been more than 17 years since the causative mutation for Huntington's disease was discovered as expansion of triplet repeat in N-terminal portion Huntingtin (HTT) gene. In intervening time, researchers have a great deal about Huntingtin's involvement number cellular processes. However, role key pathogenic mechanism leading to neurodegeneration process yet be discovered. Here, we review body knowledge that uncovered gene discovery and include discussions HTT gene, CAG expansion, expression, protein features, posttranslational modifications, many its known functions interactions. We also highlight potential mechanisms come light recent years.
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Masaki Uchida, Yoshiki Shimatsu, Kyuichiro Onoe, Noriko Matsuyama, Rikio Niki, Joh-E Ikeda, Hiroshi Imai, Production of transgenic miniature pigs by pronuclear microinjection. Transgenic Research. ,vol. 10, pp. 577- 582 ,(2001) , 10.1023/A:1013059917280
Pascal Kahlem, Guylaine Hoffner, Philippe Djian, Perinuclear localization of huntingtin as a consequence of its binding to microtubules through an interaction with β-tubulin: relevance to Huntington's disease Journal of Cell Science. ,vol. 115, pp. 941- 948 ,(2002) , 10.1242/JCS.115.5.941
Francesca Persichetti, Christine M. Ambrose, Pei Ge, Sandra M. McNeil, Jayalakshmi Srinidhi, Mary Anne Anderson, Barbara Jenkins, Glenn T. Barnes, Mabel P. Duyao, Lisa Kanaley, Nancy S. Wexler, Richard H. Myers, Edward D. Bird, Jean-Paul Vonsattel, Marcy E. MacDonald, James F. Gusella, S. H. Orkin, Normal and Expanded Huntington’s Disease Gene Alleles Produce Distinguishable Proteins Due to Translation Across the CAG Repeat Molecular Medicine. ,vol. 1, pp. 374- 383 ,(1995) , 10.1007/BF03401575
Russell G Snell, Leslie M Thompson, Danilo A Tagle, Tracey L Holloway, Glenn Barnes, Helen G Harley, Lodewijk A Sandkuijl, Marcy E MacDonald, Francis S Collins, James F Gusella, Peter S Harper, Duncan J Shaw, A recombination event that redefines the Huntington disease region American Journal of Human Genetics. ,vol. 51, pp. 357- 362 ,(1992)
B. Gostout, S. S. Sommer, Qiang Liu, "Cryptic" repeating triplets of purines and pyrimidines (cRRY(i)) are frequent and polymorphic: analysis of coding cRRY(i) in the proopiomelanocortin (POMC) and TATA-binding protein (TBP) genes. American Journal of Human Genetics. ,vol. 52, pp. 1182- 1190 ,(1993)
Miguel Díaz-Hernández, Félix Hernández, Ester Martín-Aparicio, Pilar Gómez-Ramos, María A Morán, José G Castano, Isidro Ferrer, Jesús Avila, José J Lucas, None, Neuronal induction of the immunoproteasome in Huntington's disease The Journal of Neuroscience. ,vol. 23, pp. 11653- 11661 ,(2003) , 10.1523/JNEUROSCI.23-37-11653.2003
P. Hemachandra Reddy, Maya Williams, Vinod Charles, Lisa Garrett, Lisa Pike-Buchanan, William O. Whetsell, Georgina Miller, Danilo A. Tagle, Behavioural abnormalities and selective neuronal loss in HD transgenic mice expressing mutated full-length HD cDNA Nature Genetics. ,vol. 20, pp. 198- 202 ,(1998) , 10.1038/2510
Shi-Hua Li, Claire-Anne Gutekunst, Steven M. Hersch, Xiao-Jiang Li, Interaction of Huntingtin-Associated Protein with Dynactin P150Glued The Journal of Neuroscience. ,vol. 18, pp. 1261- 1269 ,(1998) , 10.1523/JNEUROSCI.18-04-01261.1998
David C Rubinsztein, Leggo J, Coles R, Elisabeth Almqvist, Valerie Biancalana, Jean-Jacques Cassiman, Kokila Chotai, Margaret Connarty, David Craufurd, Anne Curtis, Diana Curtis, Mark J Davidson, Anne-Marie Differ, Catherine Dode, Alan Dodge, Frontali M, Neal G Ranen, O Colin Stine, Meeia Sherr, Margaret H Abbott, Mary L Franz, Colin A Graham, Peter S Harper, John C Hedreen, Anthony Jackson, Jean-Claude Kaplan, Monique Losekoot, John C MacMillan, Patrick Morrison, Yvon Trottier, Andrea Novelletto, Sheila A Simpson, Jane Theilmann, Joanne L Whittaker, Susan E Folstein, Christopher A Ross, Michael R Hayden, 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 American Journal of Human Genetics. ,vol. 59, pp. 16- 22 ,(1996)
Kevin Manley, Thomas L. Shirley, Lorraine Flaherty, Anne Messer, Msh2 deficiency prevents in vivo somatic instability of the CAG repeat in Huntington disease transgenic mice. Nature Genetics. ,vol. 23, pp. 471- 473 ,(1999) , 10.1038/70598