NCBI-Aggregator

Int J Mol Sci. 2025 Sep 13;26(18):8930. doi: 10.3390/ijms26188930.ABSTRACTiPSCs and their derivatives are used to investigate the molecular genetic mechanisms of human diseases, to identify therapeutic targets, and to screen for small molecules. Combining technologies for generating patient-specific iPSC lines and genome editing allows us to create...Read more

Int J Mol Sci. 2025 Sep 13;26(18):8934. doi: 10.3390/ijms26188934.ABSTRACTCortical transcriptional dysregulation is widespread in Huntington's disease (HD). We re-examined prefrontal Brodmann Area 9 (BA9) RNA-seq (GSE64810; 20 HD, 49 controls) using BH-FDR and GEO2R to obtain differential-expression statistics for downstream in silico integration. A compact, direction-aware 80-gene...Read more

Med Sci (Basel). 2025 Sep 22;13(3):201. doi: 10.3390/medsci13030201.ABSTRACTBACKGROUND: Huntington's disease (HD) causes progressive motor dysfunction, with chorea as its hallmark symptom. Vesicular monoamine transporter 2 (VMAT 2) inhibitors (tetrabenazine, deutetrabenazine, valbenazine) are established symptomatic therapies, while dopamine stabilizers (pridopidine, ordopidine) are emerging therapies, but their net benefit...Read more

Int J Mol Sci. 2025 Sep 3;26(17):8573. doi: 10.3390/ijms26178573.ABSTRACTThe pathogenesis and pathophysiology of Huntington's disease (HD) are still incompletely understood, despite the remarkable advances in identifying the molecular effects of the Htt mutation in this disease. Clinical positron emission tomography studies suggest that phosphodiesterase 10A (PDE10A) declines...Read more

Exp Neurol. 2025 Dec;394:115461. doi: 10.1016/j.expneurol.2025.115461. Epub 2025 Sep 12.ABSTRACTHuntington's disease (HD) is a progressive neurodegenerative disorder caused by a CAG-repeat expansion in exon-1 of the huntingtin gene. Currently, no disease-modifying therapies are available, with a significant challenge in evaluating therapeutic efficacy before clinical symptoms emerge. This...Read more

Neurogenetics. 2025 Sep 6;26(1):66. doi: 10.1007/s10048-025-00848-1.ABSTRACTHuntington's disease (HD) is a progressive, autosomal dominant neurodegenerative disorder characterized by motor dysfunction, cognitive decline, and psychiatric disturbances. It is caused by CAG repeat expansions in the HTT gene, resulting in the formation of mutant huntingtin protein that aggregates and disrupts...Read more

Parkinsonism Relat Disord. 2025 Oct;139:108023. doi: 10.1016/j.parkreldis.2025.108023. Epub 2025 Sep 3.ABSTRACTBACKGROUND: Huntington disease-like 2 (HDL2) is an autosomal dominant disorder caused by an abnormal CAG/CTG repeat in exon 2A of junctophilin-3. This is the most common Huntington's Disease phenocopy and is characterized by psychiatric, cognitive, and movement...Read more

Acta Neuropathol Commun. 2025 Aug 26;13(1):184. doi: 10.1186/s40478-025-02054-4.ABSTRACTHuntington's disease (HD) is an autosomal dominant neurodegenerative disease caused by an abnormal expansion of cytosine-adenine-guanosine (CAG) trinucleotidein the huntingtin gene. Mutant huntingtin (mHTT) expression in neurons and glial cells affects neuron and astrocyte functions and leads to the loss...Read more

Transl Neurodegener. 2025 Aug 25;14(1):44. doi: 10.1186/s40035-025-00500-w.ABSTRACTBACKGROUND: Dysregulation of the endocannabinoid system (eCBS) and the loss of CB1 receptors (CB1R) in the basal ganglia are well-established hallmarks of Huntington's disease (HD). As a result, significant research efforts have focused on targeting the eCBS to alleviate motor disturbances...Read more

Codas. 2025 Aug 15;37(4):e20240013. doi: 10.1590/2317-1782/e20240013pt. eCollection 2025.ABSTRACTPURPOSE: To describe speech profiles in individuals with Huntington's Disease (HD), correlate them with cognitive and clinical aspects, and compare them with healthy controls.METHODS: Symptomatic individuals with a clinical and molecular diagnosis of HD were included. Seven...Read more

Biochim Biophys Acta Mol Basis Dis. 2025 Nov;1871(8):168019. doi: 10.1016/j.bbadis.2025.168019. Epub 2025 Aug 18.ABSTRACTHuntington's disease is a neurodegenerative disorder associated with a polyglutamine expansion within the first exon of the huntingtin protein (HTT exon 1). This mutation results in HTT dysfunction and the production of N-terminal HTT...Read more

Schizophr Res. 2025 Oct;284:175-185. doi: 10.1016/j.schres.2025.07.012. Epub 2025 Aug 14.ABSTRACTPsychosis is a relatively rare phenomenon in Huntington's disease (HD) yet it occurs more commonly amongst individuals with HD than in the general population. Its presence is associated with significant distress and caregiver burden. This review evaluates the epidemiology, aetiology, phenomenology,...Read more

Int J Mol Sci. 2025 Jul 28;26(15):7304. doi: 10.3390/ijms26157304.ABSTRACTHuntington's disease (HD) is characterized by progressive neurodegeneration, but increasing evidence points to multisystemic involvement, including early hepatic steatosis in pediatric HD. Therefore, it is important to consider systemic alterations, particularly in liver lipid metabolism. In this study, we...Read more

Exp Neurol. 2025 Dec;394:115423. doi: 10.1016/j.expneurol.2025.115423. Epub 2025 Aug 12.ABSTRACTHuntington's disease (HD) is an autosomal-dominant neurodegenerative disorder characterized by progressive motor deficits, cognitive decline, and psychiatric disturbances caused by expanded CAG repeats in the huntingtin gene (HTT). Despite the development of various animal models, achieving a comprehensive...Read more

Cells. 2025 Aug 4;14(15):1195. doi: 10.3390/cells14151195.ABSTRACTBACKGROUND: Huntington's Disease (HD) is a monogenic neurodegenerative disease resulting in a CAG repeat expansion in the HTT gene. Despite this genetic simplicity, its molecular mechanisms remain highly complex.METHODS: In this study, untargeted serum proteomics, bioinformatics analysis, biomarker filtering...Read more