GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. Available from: ncbi.nlm.nih.gov/books/ [2]中华医学会神经病学分会神经遗传学组。中国亨廷顿病诊治指南2023 [J] . 中华神经科杂志, 2023, 56(8) : 848-855. DOI: 10.3760/cma.j.cn113694-20221226-00968. ...
赛业生物专栏《Gene of the Week》每周会根据热点研究领域介绍一个基因，详细为您介绍基因基本信息、研究概况和应用背景等，助您保持学术研究敏锐度，提高科学研究效率，期待您的持续关注哦。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...
研究者同时使用qPCR和Quantigene分析表明,YAC128小鼠中突变的人HTT mRNA被交替处理以产生HTT1a转录本,并发现人FL-HTT和HTT1a转录本在YAC128小鼠的脑中以核RNA簇的形式积累。一系列串联的三核苷酸、四核苷酸和五核苷酸重复疾病包括强直性肌营养...
5. Mangiarini L,Sathasivam K,Seller M,et al. Exon 1 of the HD gene with an expanded CAG repeat is sufficient to cause a progressive neurological phenotype in transgenic mice [J]. Cell,1996,87(3):493 -506. 6. Ravikumar...
图1 HTT的基因相关信息来源:RDDC罕见病数据中心(https://rddc.tsinghua-gd.org/details/gene?gene=xpNWd2) HTT蛋白的重要结构域包括N端的多聚谷氨酰胺结构域和聚脯氨酸结构域;含有氨基酸最多的三个HEAT结构域。HTT上有蛋白酶体、Caspase和Calpain的识别位点,正常情况下,HTT能被Caspase水解成两段,而且两段可以...
5. Mangiarini L,Sathasivam K,Seller M,et al. Exon 1 of the HD gene with an expanded CAG repeat is sufficient to cause a progressive neurological phenotype in transgenic mice [J]. Cell,1996,87(3):493 -506. 6. Ravikumar B,Vacher C,Berger Z,et al. Inhibition of mTOR in-duces autopha...
5. Mangiarini L,Sathasivam K,Seller M,et al. Exon 1 of the HD gene with an expanded CAG repeat is sufficient to cause a progressive neurological phenotype in transgenic mice [J]. Cell,1996,87(3):493 -506. 6. Ravikumar B,Vacher C,Berger Z,et al. Inhibition of mTOR in-duces autopha...
HTT genehuntingtinpermutationHuntington disease (Huntington chorea, HD) is a severe neurodegenerative disease determined by polyglutamine. Polyglutamine expansion in exon 1 of the HTT gene causes Huntington disease. To date, less than 35 CAG triplets are suggested to be present in nor...
【Gene of the Week】亨廷顿病致病基因HTT 摘要:今天我们要讲的主角是亨廷顿病致病基因HTT。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...
Trinucleotide (CAG) repeat expansions longer than 39 in the huntingtin (HTT) gene cause Huntington’s disease (HD). The frequency of intermediate alleles (IA) with a length of 27–35 in the general population is not fully known, but studied in specific m