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Dataset results
501 results for “Huntington's disease”
Environment-dependent striatal gene expression in the BACHD rat model for Huntington disease
GEO Series GSE107259. Rattus norvegicus. 36 samples. Type: Expression profiling by high throughput sequencing.
mRNA Sequencing of control and huntington's disease iPSC-derived medium spiny neuron-like cells and Q175 HET or WT mice. Plus and minus knockdown of PIAS1.
GEO Series GSE162349. Mus musculus; Homo sapiens. 64 samples. Type: Expression profiling by high throughput sequencing.
Data from: Population-specific genetic modification of Huntington's disease in Venezuela
Modifiers of Mendelian disorders can provide insights into disease mechanisms and guide therapeutic strategies. A recent genome-wide association (GWA) study discovered genetic modifiers of Huntington's disease (HD) onset in Europeans. Here, we performed whole genome sequencing and GWA analysis of a Venezuelan HD cluster whose families were crucial for the original mapping of the HD gene defect. The Venezuelan HD subjects develop motor symptoms earlier than their European counterparts, implying the potential for population-specific modifiers. The main Venezuelan HD family inherits HTT haplotype hap.03, which differs subtly at the sequence level from European HD hap.03, suggesting a different ancestral origin but not explaining the earlier age at onset in these Venezuelans. GWA analysis of the Venezuelan HD cluster suggests both population-specific and population-shared genetic modifiers. Genome-wide significant signals at 7p21.2-21.1 and suggestive association signals at 4p14 and 17q21.2 are evident only in Venezuelan HD, but genome-wide significant association signals at the established European chromosome 15 modifier locus are improved when Venezuelan HD data are included in the meta-analysis. Venezuelan-specific association signals on chromosome 7 center on SOSTDC1, which encodes a bone morphogenetic protein antagonist. The corresponding SNPs are associated with reduced expression of SOSTDC1 in non-Venezuelan tissue samples, suggesting that interaction of reduced SOSTDC1 expression with a population-specific genetic or environmental factor may be responsible for modification of HD onset in Venezuela. Detection of population-specific modification in Venezuelan HD supports the value of distinct disease populations in revealing novel aspects of a disease and population-relevant therapeutic strategies.
Integrative determination of atomic structure of mutant huntingtin exon 1 fibrils implicated in Huntington disease — data files
<div>This zenodo entry contains MD and solid-state NMR data files for the paper:</div> <div> </div> <div><strong><em>Mahdi Bagherpoor Helabad et al. (2024) Integrative determination of atomic structure of mutant huntingtin exon 1 fibrils implicated in Huntington disease</em></strong></div> <div> </div> <h2> </h2> <h2>MD datasets and code</h2> <div>We provide here (in <strong>MD_simulations_data_codes.zip</strong>) the MD simulations files for the MD runs and also data, and their respective codes, shown in the figures of the above papers.</div> <div> </div> <div>Data file structure: </div> <p><strong>MD_data </strong></p> <ul> <li>The MD simulation run files for three fully periodic systems—PolyQ15 and HTTex1—include the following: .gro files for both minimization and final structures, production .tpr files, force field parameters, GROMACS .mdp files, and position and dihedral restraint files. <ul> <li>fully_periodic_systems</li> <li>polyQ15</li> <li>HTTex1</li> </ul> </li> </ul> <p><strong>Figs_Data_Codes</strong></p> <div> <ul> <li>The data and in-house Python scripts associated with creating the figures: <ul> <li>Fig2B_S4 for Figure 2B and Supplementary Figure 4</li> <li>Fig2D_S5 for Figure 2D and Supplementary Figure 5</li> <li>Fig3C_S10 for Figure 3C and Supplementary Figure 10</li> <li>Fig4_S12_S13_S14 for Figure 4C and Supplementary Figures 12–14</li> <li>Fig6C for Figure 6C</li> <li>FigS3B_S6 for Supplementary Figures 3B and 6</li> <li>FigS8 for Supplementary Figure 8</li> <li>FigS9_S11 for Supplementary Figures 9–11</li> <li>FigS16_to_S21 for Supplementary Figures 16–21</li> <li>FigS22 for Supplementary Figure 22</li> <li>readMe.txt <div> </div> </li> </ul> </li> </ul> </div> <div><strong>Fig6_c_barplot_data.xlsx</strong></div> <div> <ul> <li>Excel file with data plotted in Figure 6C.</li> </ul> <p><strong>N17_SecStr_convergence.xlsx</strong></p> <div> <ul> <li>Excel file with convergence data for N17 domain.</li> </ul> </div> </div> <h2>Solid-state NMR data</h2> <div>We provide here the solid-state NMR spectrum files for the data shown in figures of the above paper.</div> <div> </div> <div>Data file structure:</div> <div> </div> <div><strong>SSNMR_data_listing_20241011a.txt</strong></div> <div> <ul> <li>text file describing the ssNMR data files</li> </ul> </div> <div><strong>SSNMR_data.zip</strong></div> <ul> <li>Figure_1 - data for Figure 1F</li> <li>Figure_5 - data for Figure 5</li> <li>Figure_6 - data for Figure 6</li> <li>Figure_S7 - data for Figure 2G and Supplementary Figure 7</li> <li>Figure_S15 - NMR data for HDX ssNMR of fibrils – Supplementary Figure 15</li> </ul> <div><strong>Fig6_b_barplot_data.xlsx</strong></div> <div> <ul> <li>Excel file with data plotted in Figure 6B, based on previously reported results (DOI 10.1038/ncomms15462)</li> </ul> </div> <div> </div> <div>Data are provided in either Bruker Topspin format, or in NMRPIPE format (ft2 extension).</div> <div>Experimental parameters are described in the published paper and its Supplementary Information files. In general, these are all data from magic-angle-spinning (MAS) NMR studies of intact amyloid fibrils made with isotope labeled HTTex1 fibrils. Experimental types include 2D CP-DARR, 2D TOBSY, 2D HETCOR spectra as well as relaxation measurements. Aside from NMR datafiles, also documents with interpreted and integrated data are included, used to make data curves in the figure (e.g. for Prism software).</div> <div> </div> <div> </div> <div> </div>
Home-based Transcranial Direct Current Stimulation Open Trial for Behavioral and Cognitive Symptoms in Huntington's Disease
ClinicalTrials.gov study NCT05326451. IPD Sharing: NO. Countries: 1. Publications: 0.
A Trial of Memantine as Symptomatic Treatment for Early Huntington Disease
ClinicalTrials.gov study NCT01458470. IPD Sharing: Not stated. Countries: 1. Publications: 0.
Characterization and Quantification of Motor Speech Disorders in Huntington's Disease: Identification of Acoustic Markers
ClinicalTrials.gov study NCT04630574. IPD Sharing: Not stated. Countries: 1. Publications: 0.
Far Infrared Irradiation for Managing, Control and Treatment of Huntington's Disease (HD)
ClinicalTrials.gov study NCT00675077. IPD Sharing: Not stated. Countries: 1. Publications: 0.
Open-Label Rollover Study for Continuing Valbenazine Administration for the Treatment of Chorea Associated With Huntington Disease
ClinicalTrials.gov study NCT04400331. IPD Sharing: NO. Countries: 2. Publications: 0.
A Pilot Study of Nutritional Status in Patients With Huntington's Disease
ClinicalTrials.gov study NCT05668520. IPD Sharing: UNDECIDED. Countries: 1. Publications: 0.
Apathy Cure Through Bupropion in Huntington's Disease
ClinicalTrials.gov study NCT01914965. IPD Sharing: Not stated. Countries: 1. Publications: 0.
Bioavailability of Ubiquinol in Huntington Disease
ClinicalTrials.gov study NCT00980694. IPD Sharing: Not stated. Countries: 1. Publications: 0.
A Open-label Food Effect Study With SEN0014196 in Subjects With Huntington Disease
ClinicalTrials.gov study NCT01485965. IPD Sharing: Not stated. Countries: 1. Publications: 0.
Study of Huntington Patients in Connection With European Huntington's Disease Network (EHDN)
ClinicalTrials.gov study NCT01554033. IPD Sharing: Not stated. Countries: 1. Publications: 0.
HD-Charge: Indirect and Out-of-Pocket Costs of Huntington's Disease in the United States
ClinicalTrials.gov study NCT03628235. IPD Sharing: UNDECIDED. Countries: 1. Publications: 0.
Dynamic Neuroimaging Biomarkers in Huntington's Disease
ClinicalTrials.gov study NCT02639871. IPD Sharing: Not stated. Countries: 1. Publications: 0.
Natural History Study in Huntington Disease Gene Expansion Carriers (HDGECs) - SHIELD HD
ClinicalTrials.gov study NCT04406636. IPD Sharing: UNDECIDED. Countries: 5. Publications: 0.
Multi-Modal Digital Monitoring of Disease Symptoms Huntington's Disease
ClinicalTrials.gov study NCT07315984. IPD Sharing: NO. Countries: 1. Publications: 0.
Study of SKY-0515 for Safety, Efficacy, and Pharmacodynamics in Participants With Huntington's Disease
ClinicalTrials.gov study NCT06873334. IPD Sharing: NO. Countries: 2. Publications: 0.
Assessment of the Psychological, Cognitive and Social Resources of Applicants for Huntington's Disease and Presymptomatic Genetic Testing
ClinicalTrials.gov study NCT02134561. IPD Sharing: Not stated. Countries: 1. Publications: 0.
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