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ClinicalTrials.gov (NCT05243017) A Phase Ib/II Study to Explore Safety, Tolerability, and Efficacy Signals of Multiple Ascending Doses of Striatally-Administered rAAV5-miHTT Total Huntingtin Gene (HTT) Lowering Therapy (AMT 130) in Early Manifest Huntington's Disease. U.S.National Institutes of Health.
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ClinicalTrials.gov (NCT00970229) Evaluation of [123I]MNI-420 and SPECT as a Marker of the Adenosine A2a Receptor in PD, HD and Healthy Subjects.. U.S. National Institutes of Health.
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ClinicalTrials.gov (NCT01031186) First Time in Human Study. U.S. National Institutes of Health.
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Calmidazolium Chloride and Its Complex with Serum Albumin Prevent Huntingtin Exon1 Aggregation. Mol Pharm. 2018 Aug 6;15(8):3356-3368.
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Pituitary Adenylate Cyclase-Activating Polypeptide (PACAP) Enhances Hippocampal Synaptic Plasticity and Improves Memory Performance in Huntington's Disease.Mol Neurobiol. 2018 Nov;55(11):8263-8277. doi: 10.1007/s12035-018-0972-5. Epub 2018 Mar 10.
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A soluble truncated tau species related to cognitive dysfunction and caspase-2 is elevated in the brain of Huntington's disease patients.Acta Neuropathol Commun. 2019 Jul 30;7(1):111. doi: 10.1186/s40478-019-0764-9.
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Identification of novel genes in Hirschsprung disease pathway using whole genome expression study.J Pediatr Surg. 2012 Feb;47(2):303-7. doi: 10.1016/j.jpedsurg.2011.11.017.
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Characterization of somatostatin receptors and associated signaling pathways in pancreas of R6/2 transgenic mice.Biochim Biophys Acta Mol Basis Dis. 2018 Feb;1864(2):359-373. doi: 10.1016/j.bbadis.2017.11.002. Epub 2017 Nov 14.
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Treatment with the MAO-A inhibitor clorgyline elevates monoamine neurotransmitter levels and improves affective phenotypes in a mouse model of Huntington disease.Exp Neurol. 2016 Apr;278:4-10. doi: 10.1016/j.expneurol.2016.01.019. Epub 2016 Jan 26.
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Amelioration of Huntington's disease phenotypes by Beta-Lapachone is associated with increases in Sirt1 expression, CREB phosphorylation and PGC-1 deacetylation.PLoS One. 2018 May 9;13(5):e0195968. doi: 10.1371/journal.pone.0195968. eCollection 2018.
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Minocycline inhibits caspase-independent and -dependent mitochondrial cell death pathways in models of Huntington's disease.Proc Natl Acad Sci U S A. 2003 Sep 2;100(18):10483-7. doi: 10.1073/pnas.1832501100. Epub 2003 Aug 20.
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Relationship Between Leptin Level, Inflammation, and Volume Status in Maintenance Hemodialysis Patients.Ther Apher Dial. 2019 Feb;23(1):59-64. doi: 10.1111/1744-9987.12750. Epub 2018 Sep 18.
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Up-regulation of the isoenzymes MAO-A and MAO-B in the human basal ganglia and pons in Huntington's disease revealed by quantitative enzyme radioautography.Brain Res. 2011 Jan 25;1370:204-14. doi: 10.1016/j.brainres.2010.11.020. Epub 2010 Nov 11.
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Activation of NPY-Y2 receptors ameliorates disease pathology in the R6/2 mouse and PC12 cell models of Huntington's disease.Exp Neurol. 2018 Apr;302:112-128. doi: 10.1016/j.expneurol.2018.01.001. Epub 2018 Jan 6.
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Relationship between plasma levels of sclerostin, calcium-phosphate disturbances, established markers of bone turnover, and inflammation in haemodialysis patients.Int Urol Nephrol. 2019 Mar;51(3):519-526. doi: 10.1007/s11255-018-2050-3. Epub 2018 Dec 24.
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Association Between Toll-Like Receptor 4 (TLR4) and Triggering Receptor Expressed on Myeloid Cells 2 (TREM2) Genetic Variants and Clinical Progression of Huntington's Disease.Mov Disord. 2020 Mar;35(3):401-408. doi: 10.1002/mds.27911. Epub 2019 Nov 14.
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TRPC5 channel instability induced by depalmitoylation protects striatal neurons against oxidative stress in Huntington's disease.Biochim Biophys Acta Mol Cell Res. 2020 Feb;1867(2):118620. doi: 10.1016/j.bbamcr.2019.118620. Epub 2019 Dec 6.
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HAP1 is an in vivo UBE3A target that augments autophagy in a mouse model of Angelman syndrome.Neurobiol Dis. 2019 Dec;132:104585. doi: 10.1016/j.nbd.2019.104585. Epub 2019 Aug 21.
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Altered Aconitase 2 Activity in Huntington's Disease Peripheral Blood Cells and Mouse Model Striatum.Int J Mol Sci. 2017 Nov 21;18(11):2480. doi: 10.3390/ijms18112480.
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Myostatin inhibition prevents skeletal muscle pathophysiology in Huntington's disease mice.Sci Rep. 2017 Oct 27;7(1):14275. doi: 10.1038/s41598-017-14290-3.
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Increased 5-methylcytosine and decreased 5-hydroxymethylcytosine levels are associated with reduced striatal A2AR levels in Huntington's disease.Neuromolecular Med. 2013 Jun;15(2):295-309. doi: 10.1007/s12017-013-8219-0. Epub 2013 Feb 6.
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Genetics Modulate Gray Matter Variation Beyond Disease Burden in Prodromal Huntington's Disease.Front Neurol. 2018 Mar 29;9:190. doi: 10.3389/fneur.2018.00190. eCollection 2018.
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Potential Correlation Between Circulating Fetuin-A and Pentraxin-3 With Biochemical Parameters of Calcification in Hemodialysis Patients.Arch Iran Med. 2017 Dec 1;20(12):752-755.
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Prevention of cytosolic IAPs degradation: a potential pharmacological target in Huntington's Disease.Pharmacol Res. 2005 Aug;52(2):140-50. doi: 10.1016/j.phrs.2005.01.006.
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Vascular adhesion protein-1 in hemodialysis and hemodiafiltration patients: effect of single hemodialysis session on its level in regard to type of anticoagulant.Int Urol Nephrol. 2017 May;49(5):875-879. doi: 10.1007/s11255-016-1497-3. Epub 2017 Jan 2.
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Reducing canonical Wingless/Wnt signaling pathway confers protection against mutant Huntingtin toxicity in Drosophila.Neurobiol Dis. 2012 Aug;47(2):237-47. doi: 10.1016/j.nbd.2012.04.007. Epub 2012 Apr 17.
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Effect of Apolipoprotein E Genotypes on Huntington's Disease Phenotypes in a Han Chinese Population.Neurosci Bull. 2019 Aug;35(4):756-762. doi: 10.1007/s12264-019-00360-1. Epub 2019 Mar 18.
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Huntington's disease biomarker progression profile identified by transcriptome sequencing in peripheral blood.Eur J Hum Genet. 2015 Oct;23(10):1349-56. doi: 10.1038/ejhg.2014.281. Epub 2015 Jan 28.
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Immunohistochemical analysis of huntingtin-associated protein 1 in adult rat spinal cord and its regional relationship with androgen receptor.Neuroscience. 2017 Jan 6;340:201-217. doi: 10.1016/j.neuroscience.2016.10.053. Epub 2016 Oct 29.
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Blocking acid-sensing ion channel 1 alleviates Huntington's disease pathology via an ubiquitin-proteasome system-dependent mechanism.Hum Mol Genet. 2008 Oct 15;17(20):3223-35. doi: 10.1093/hmg/ddn218. Epub 2008 Jul 24.
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The V471A polymorphism in autophagy-related gene ATG7 modifies age at onset specifically in Italian Huntington disease patients.PLoS One. 2013 Jul 22;8(7):e68951. doi: 10.1371/journal.pone.0068951. Print 2013.
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Evaluating the SERCA2 and VEGF mRNAs as Potential Molecular Biomarkers of the Onset and Progression in Huntington's Disease.PLoS One. 2015 Apr 27;10(4):e0125259. doi: 10.1371/journal.pone.0125259. eCollection 2015.
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Effects of simvastatin on neuroprotection and modulation of Bcl-2 and BAX in the rat quinolinic acid model of Huntington's disease.Neurosci Lett. 2008 Dec 19;448(1):166-9. doi: 10.1016/j.neulet.2008.10.023. Epub 2008 Oct 14.
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Increased complement biosynthesis by microglia and complement activation on neurons in Huntington's disease.Exp Neurol. 1999 Oct;159(2):362-76. doi: 10.1006/exnr.1999.7170.
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CAG repeat disorder models and human neuropathology: similarities and differences.Acta Neuropathol. 2008 Jan;115(1):71-86. doi: 10.1007/s00401-007-0287-5. Epub 2007 Sep 5.
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Identification of a novel caspase cleavage site in huntingtin that regulates mutant huntingtin clearance.FASEB J. 2019 Mar;33(3):3190-3197. doi: 10.1096/fj.201701510RRR. Epub 2018 Nov 13.
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Hyperhomocysteinaemia in treated patients with Huntington's disease homocysteine in HD.Mov Disord. 2004 Feb;19(2):226-8. doi: 10.1002/mds.10629.
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CD200 is up-regulated in R6/1 transgenic mouse model of Huntington's disease.PLoS One. 2019 Dec 2;14(12):e0224901. doi: 10.1371/journal.pone.0224901. eCollection 2019.
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Cyclin-Dependent Kinase 5 Dysfunction Contributes to Depressive-like Behaviors in Huntington's Disease by Altering the DARPP-32 Phosphorylation Status in the Nucleus Accumbens.Biol Psychiatry. 2019 Aug 1;86(3):196-207. doi: 10.1016/j.biopsych.2019.03.001. Epub 2019 Mar 13.
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Epigenetic regulation of cholinergic receptor M1 (CHRM1) by histone H3K9me3 impairs Ca(2+) signaling in Huntington's disease.Acta Neuropathol. 2013 May;125(5):727-39. doi: 10.1007/s00401-013-1103-z. Epub 2013 Mar 2.
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Progressive Cl- channel defects reveal disrupted skeletal muscle maturation in R6/2 Huntington's mice.J Gen Physiol. 2017 Jan;149(1):55-74. doi: 10.1085/jgp.201611603. Epub 2016 Nov 29.
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Somatostatin and cannabinoid receptors crosstalk in protection of huntingtin knock-in striatal neuronal cells in response to quinolinic acid.Neurochem Int. 2019 Oct;129:104518. doi: 10.1016/j.neuint.2019.104518. Epub 2019 Aug 2.
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Decreased Lin7b expression in layer 5 pyramidal neurons may contribute to impaired corticostriatal connectivity in huntington disease.J Neuropathol Exp Neurol. 2010 Sep;69(9):880-95. doi: 10.1097/NEN.0b013e3181ed7a41.
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Neuroprotective effects of psychotropic drugs in Huntington's disease.Int J Mol Sci. 2013 Nov 15;14(11):22558-603. doi: 10.3390/ijms141122558.
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Transducer of regulated CREB-binding proteins (TORCs) transcription and function is impaired in Huntington's disease.Hum Mol Genet. 2012 Aug 1;21(15):3474-88. doi: 10.1093/hmg/dds178. Epub 2012 May 15.
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High-resolution respirometry of fine-needle muscle biopsies in pre-manifest Huntington's disease expansion mutation carriers shows normal mitochondrial respiratory function.PLoS One. 2017 Apr 13;12(4):e0175248. doi: 10.1371/journal.pone.0175248. eCollection 2017.
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Two-track virtual screening approach to identify both competitive and allosteric inhibitors of human small C-terminal domain phosphatase 1.J Comput Aided Mol Des. 2017 Aug;31(8):743-753. doi: 10.1007/s10822-017-0037-2. Epub 2017 Jun 26.
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CYP46A1 gene therapy deciphers the role of brain cholesterol metabolism in Huntington's disease.Brain. 2019 Aug 1;142(8):2432-2450. doi: 10.1093/brain/awz174.
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The striatal kinase DCLK3 produces neuroprotection against mutant huntingtin.Brain. 2018 May 1;141(5):1434-1454. doi: 10.1093/brain/awy057.
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2,4 DNP improves motor function, preserves medium spiny neuronal identity, and reduces oxidative stress in a mouse model of Huntington's disease.Exp Neurol. 2017 Jul;293:83-90. doi: 10.1016/j.expneurol.2017.03.020. Epub 2017 Mar 28.
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Complete suppression of Htt fibrilization and disaggregation of Htt fibrils by a trimeric chaperone complex.EMBO J. 2018 Jan 17;37(2):282-299. doi: 10.15252/embj.201797212. Epub 2017 Dec 6.
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Localized changes to glycogen synthase kinase-3 and collapsin response mediator protein-2 in the Huntington's disease affected brain. Hum Mol Genet. 2014 Aug 1;23(15):4051-63. doi: 10.1093/hmg/ddu119. Epub 2014 Mar 14.
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Dysregulation of gene expression in primary neuron models of Huntington's disease shows that polyglutamine-related effects on the striatal transcriptome may not be dependent on brain circuitry.J Neurosci. 2008 Sep 24;28(39):9723-31. doi: 10.1523/JNEUROSCI.3044-08.2008.
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Transcriptional correlates of the pathological phenotype in a Huntington's disease mouse model.Sci Rep. 2019 Dec 10;9(1):18696. doi: 10.1038/s41598-019-55177-9.
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DRD3 variation associates with early-onset heroin dependence, but not specific personality traits.Prog Neuropsychopharmacol Biol Psychiatry. 2014 Jun 3;51:1-8. doi: 10.1016/j.pnpbp.2013.12.018. Epub 2014 Jan 5.
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Localization of the D5 dopamine receptor gene to human chromosome 4p15.1-p15.3, centromeric to the Huntington's disease locus.Genomics. 1992 Mar;12(3):510-6. doi: 10.1016/0888-7543(92)90442-u.
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MAP kinase phosphatase 1 (MKP-1/DUSP1) is neuroprotective in Huntington's disease via additive effects of JNK and p38 inhibition.J Neurosci. 2013 Feb 6;33(6):2313-25. doi: 10.1523/JNEUROSCI.4965-11.2013.
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Cell cycle activation in striatal neurons from Huntington's disease patients and rats treated with 3-nitropropionic acid.Int J Dev Neurosci. 2008 Nov;26(7):665-71. doi: 10.1016/j.ijdevneu.2008.07.016. Epub 2008 Aug 12.
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Exploring Genetic Factors Involved in Huntington Disease Age of Onset: E2F2 as a New Potential Modifier Gene.PLoS One. 2015 Jul 6;10(7):e0131573. doi: 10.1371/journal.pone.0131573. eCollection 2015.
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Correction of Huntington's Disease Phenotype by Genistein-Induced Autophagy in the Cellular Model.Neuromolecular Med. 2018 Mar;20(1):112-123. doi: 10.1007/s12017-018-8482-1. Epub 2018 Feb 12.
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Remodeling of heterochromatin structure slows neuropathological progression and prolongs survival in an animal model of Huntington's disease.Acta Neuropathol. 2017 Nov;134(5):729-748. doi: 10.1007/s00401-017-1732-8. Epub 2017 Jun 7.
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Dysregulated brain creatine kinase is associated with hearing impairment in mouse models of Huntington disease.J Clin Invest. 2011 Apr;121(4):1519-23. doi: 10.1172/JCI43220. Epub 2011 Mar 14.
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Longitudinal assessment of the Unified Huntington's Disease Rating Scale (UHDRS) and UHDRS-For Advanced Patients (UHDRS-FAP) in patients with late stage Huntington's disease.Eur J Neurol. 2019 May;26(5):780-785. doi: 10.1111/ene.13889. Epub 2019 Jan 27.
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Differential Impacts of Intravenous Iron Administration and Iron-Containing Phosphate Binders on Serum Intact Fibroblast Growth Factor 23 Levels.Blood Purif. 2019;47 Suppl 2:63-69. doi: 10.1159/000496640. Epub 2019 Apr 3.
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Expanded polyglutamine impairs normal nuclear distribution of fused in sarcoma and poly (rC)-binding protein 1 in Huntington's disease.Neuropathology. 2019 Oct;39(5):358-367. doi: 10.1111/neup.12600. Epub 2019 Oct 9.
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A GABBR2 gene variant modifies pathophysiology in Huntington's disease.Neurosci Lett. 2016 May 4;620:8-13. doi: 10.1016/j.neulet.2016.03.038. Epub 2016 Mar 23.
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Palmitoylation and trafficking of GAD65 are impaired in a cellular model of Huntington's disease.Biochem J. 2012 Feb 15;442(1):39-48. doi: 10.1042/BJ20110679.
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Mutant huntingtin reduction in astrocytes slows disease progression in the BACHD conditional Huntington's disease mouse model.Hum Mol Genet. 2019 Feb 1;28(3):487-500. doi: 10.1093/hmg/ddy363.
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Bilateral quinolinic acid-induced lipid peroxidation, decreased striatal monoamine levels and neurobehavioral deficits are ameliorated by GIP receptor agonist D-Ala(2)GIP in rat model of Huntington's disease.Eur J Pharmacol. 2018 Jun 5;828:31-41. doi: 10.1016/j.ejphar.2018.03.034. Epub 2018 Mar 22.
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Targeting Gpr52 lowers mutant HTT levels and rescues Huntington's disease-associated phenotypes.Brain. 2018 Jun 1;141(6):1782-1798. doi: 10.1093/brain/awy081.
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SorCS2-mediated NR2A trafficking regulates motor deficits in Huntington's disease.JCI Insight. 2017 May 4;2(9):e88995. doi: 10.1172/jci.insight.88995. eCollection 2017 May 4.
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Inhibition of specific HDACs and sirtuins suppresses pathogenesis in a Drosophila model of Huntington's disease.Hum Mol Genet. 2008 Dec 1;17(23):3767-75. doi: 10.1093/hmg/ddn273. Epub 2008 Sep 1.
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Mitochondrial Dysfunction in Huntington's Disease; Interplay Between HSF1, p53 and PGC-1 Transcription Factors.Front Cell Neurosci. 2019 Mar 19;13:103. doi: 10.3389/fncel.2019.00103. eCollection 2019.
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Linkage, but not gene order, of homologous loci, including alpha-L-iduronidase (Idua), is conserved in the Huntington disease region of the mouse and human genomes.Mamm Genome. 1992;3(1):23-7. doi: 10.1007/BF00355837.
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Interferon-3 as a Predictor of Survival in Hemodialysis Patients.Curr Mol Med. 2018;18(4):207-215. doi: 10.2174/1566524018666180926162324.
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