摘要: Mutation in huntingtin leads to Huntington's disease. In this issue ofNeuron, Saudou and Humbert highlight wild-type huntingtin-regulated molecular and cellular mechanisms that could be dysfunctional in Huntington's disease and the impact on the specificity and severity of this disorder....
Identification of the gene responsible for HD has allowed a better understanding of the mechanisms responsible for the disease. However, the exact molecular events leading to the death of the striatal neurons are still not well understood. The huntingtin protein is expressed widely throughout the ...
今天我们要讲的主角是亨廷顿病致病基因HTT。 HTT基因研究概况 该基因与亨廷顿病(Huntington disease,HD)直接相关,致病区域在其1号外显子上。在正常人中,HTT基因的1号外显子数量只有不超过35个连续的CAG重复,编码一段Huntingtin蛋白上的多聚谷氨酸。当这种CAG重复超过35个时,HD发病概率随着重复的增加而上升。目前HD在...
Humbert The Biology of huntingtin Neuron, 89 (2016), pp. 910-926 View PDFView articleView in ScopusGoogle Scholar 8 E.J. Wild, R. Boggio, D. Langbehn, N. Robertson, S. Haider, J.R. Miller, et al. Quantification of mutant huntingtin protein in cerebrospinal fluid from Huntington's ...
The Biology of Huntingtin. Neuron. 2016;89:910–26. Article CAS PubMed Google Scholar Morozova OA, Gupta S, Colby DW. Prefibrillar huntingtin oligomers isolated from HD brain potently seed amyloid formation. FEBS Lett. 2015;589:1897–903. Article CAS PubMed Google Scholar Pieri L, Mad...
The biology of Huntingtin. Neuron 89, 910–926 (2016). CAS PubMed Google Scholar Bates, G. Huntingtin aggregation and toxicity in Huntington’s disease. Lancet 361, 1642–1644 (2003). CAS PubMed Google Scholar Zuccato, C., Valenza, M. & Cattaneo, E. Molecular mechanisms and potential...
Hunting for the function of Huntingtin 来自 Semantic Scholar 喜欢 0 阅读量: 16 作者:Q Zheng,M Joinnides 摘要: Department of Biology, The University of Pennsylvania, Philadelphia, PA 19104, USA. zhqi@sas.upenn.edu 关键词: embryonic stem cell flow cytometry gene expression patterns microarray ...
It is distinct from that described previously in western populations. Western HD chromosomes strongly associate with an allele of (CCG)7. Possible mechanisms underlying the disequilibrium in Japan are discussed. 展开 关键词: MOLECULAR BIOLOGY PCR POPULATION BIOLOGY ...
The presence of NOX isoforms in brain cells and its vasculature make it a potential therapeutic target in both acute and chronic brain diseases. NOX enzymes are not only responsible for disease conditions, but are also involved in essential events in stem cell biology, CNS development, and mature...
Department of Molecular Biology, Hamon Center for Regenerative Science and Medicine, University of Texas Southwestern Medical Center, Dallas, TX, 75390, USA Meng-Lu Liu, Shuaipeng Ma, Wenjiao Tai, Xiaoling Zhong, Haoqi Ni, Yuhua Zou, Jingcheng Wang & Chun-Li Zhang Contributions M-LL, SM, ...