HttQ111/+ Huntington's Disease Knock-in Mice Exhibit Brain Region-Specific Morphological Changes and Synaptic Dysfunction [0.03%]
HttQ111/+型亨廷顿舞蹈病敲入小鼠表现出区域特异性形态变化和突触功能障碍
Marina Kovalenko,Austen Milnerwood,James Giordano et al.
Marina Kovalenko et al.
Background: Successful disease-modifying therapy for Huntington's disease (HD) will require therapeutic intervention early in the pathogenic process. Achieving this goal requires identifying phenotypes that are proximal t...
A Genetic Study of Psychosis in Huntington's Disease: Evidence for the Involvement of Glutamate Signaling Pathways [0.03%]
亨廷顿病的精神病遗传学研究：谷氨酸信号通路参与的证据
Debby W Tsuang,Tiffany A Greenwood,Suman Jayadev et al.
Debby W Tsuang et al.
Background: Psychotic symptoms of delusions and hallucinations occur in about 5% of persons with Huntington's disease (HD). The mechanisms underlying these occurrences are unknown, but the same symptoms also occur in schi...
Age at Death and Causes of Death in Patients with Huntington Disease in Norway in 1986-2015 [0.03%]
1986年至2015年挪威亨廷顿病患者的死亡年龄及死因分析
Olga Karin Solberg,Petra Filkuková,Jan C Frich et al.
Olga Karin Solberg et al.
Background: The literature offers discrepant findings regarding age at death in individuals with Huntington disease (HD). Objective: To...
Pridopidine: Overview of Pharmacology and Rationale for its Use in Huntington's Disease [0.03%]
普瑞多平：药理概述及其在亨廷顿病治疗中的应用原理
Susanna Waters,Joakim Tedroff,Henrik Ponten et al.
Susanna Waters et al.
Despite advances in understanding the pathophysiology of Huntington's disease (HD), there are currently no effective pharmacological agents available to treat core symptoms or to stop or prevent the progression of this hereditary neurodegen...
Inhibition of TRPC1-Dependent Store-Operated Calcium Entry Improves Synaptic Stability and Motor Performance in a Mouse Model of Huntington's Disease [0.03%]
抑制TRPC1依赖的储存操作钙进入可改善亨廷顿舞蹈病小鼠模型中的突触稳定性和运动表现
Jun Wu,Daniel Ryskamp,Lutz Birnbaumer et al.
Jun Wu et al.
Background: Huntington disease (HD) is a dominantly inherited neurodegenerative disorder caused by a CAG repeat expansion in the huntingtin gene. We previously discovered that mutant Huntingtin sensitizes type 1 inositol ...
Early Neurodegeneration in R6/2 Mice Carrying the Huntington's Disease Mutation with a Super-Expanded CAG Repeat, Despite Normal Lifespan [0.03%]
哈廷顿舞蹈病突变小鼠早期神经退行性病变的产生及其超强扩增的CAG序列重复，尽管其寿命正常
Catherine Kielar,A Jennifer Morton
Catherine Kielar
The threshold of CAG repeat expansion in the HTT gene that causes HD is 36 CAG repeats, although 'superlong' expansions are found in individual neurons in postmortem brains. Previously, we showed that, compared to mice with 440) CAG repeat ...
Cognitive Dysfunction Contributes to Mobility Impairments in Huntington's Disease [0.03%]
认知功能障碍导致亨廷顿舞蹈病患者的运动能力下降
Anne D Kloos,Deb A Kegelmeyer,Nora E Fritz et al.
Anne D Kloos et al.
Background: Huntington's disease (HD) is a progressive neurodegenerative disorder that results in a gradual decline in mobility and balance. Increasing evidence has documented an important role of executive function in th...
Modulating Neurotrophin Receptor Signaling as a Therapeutic Strategy for Huntington's Disease [0.03%]
神经生长因子受体信号传导的调节作为亨廷顿舞蹈病的治疗策略
Danielle A Simmons
Danielle A Simmons
Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder caused by CAG repeat expansions in the IT15 gene which encodes the huntingtin (HTT) protein. Currently, no treatments capable of preventing or slowing disease pro...
Validation of Ultrasensitive Mutant Huntingtin Detection in Human Cerebrospinal Fluid by Single Molecule Counting Immunoassay [0.03%]
人脑脊液中超灵敏突变型猎兔蛋白检测的单分子计数免疫测定法验证
Valentina Fodale,Roberto Boggio,Manuel Daldin et al.
Valentina Fodale et al.
Background: The measurement of disease-relevant biomarkers has become a major component of clinical trial design, but in the absence of rigorous clinical and analytical validation of detection methodology, interpretation ...
Towards an Understanding of Energy Impairment in Huntington's Disease Brain [0.03%]
亨廷顿病脑损伤中能量代谢异常的研究进展
Janet M Dubinsky
Janet M Dubinsky
This review systematically examines the evidence for shifts in flux through energy generating biochemical pathways in Huntington's disease (HD) brains from humans and model systems. Compromise of the electron transport chain (ETC) appears n...