Doença de Huntington

A Randomized Study of SPK-10001 Gene Therapy in Participants With Huntington's Disease

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NCT06826612

A Study to Investigate the Efficacy, Safety and Tolerability of Votoplam in Participants With Huntington's Disease

Sem fase

NCT07326709

Safety and Tolerability Study of Human Neural Stem Cells for Huntington's Disease

Fase II

NCT07451613

Frequency of Selected Single Nucleotide Polymorphisms in Huntington Disease Gene Expansion Carriers

Sem fase

NCT06667414

NCT07378644 · Study to Evaluate the Pharmacodynamics, Safety and Efficacy …Recrutando

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Publicações mais relevantes

Timeline de publicações

1.686 papers (10 anos)

Mostrando amostra de 200 publicações de um total de 1.686

#1

Membrane-associated Rhes-Slc4a7 complex orchestrates tunneling nanotube formation and mutant Huntingtin spread.

Science advances2026 Mar 20

Tunneling nanotubes (TNTs) are membranous structures that mediate intercellular transfer of proteins, including the pathogenic mutant Huntingtin (mHTT) protein in Huntington disease (HD). We previously identified the ras homolog enriched in the striatum (Rhes) as a key regulator of TNT formation and mHTT transmission; however, the molecular components underlying this process remained unknown. Here, using unbiased liquid chromatography-tandem mass spectrometry analysis of membrane-associated Rhes complexes, we identify Slc4a7 (solute carrier family 4 member 7), an intracellular pH sensor, as a top membrane-binding partner of Rhes. Functional studies revealed that small interfering RNA-mediated depletion or pharmacological inhibition of Slc4a7 substantially reduced Rhes-induced TNT formation and suppressed mHTT intercellular transfer. Mechanistically, Rhes directly interacts with Slc4a7 through both its amino- and carboxyl-terminal domains and modulates intracellular pH to facilitate TNT formation. This interaction does not depend on the transporter activity of Slc4a7. However, inhibition of Rhes farnesylation-a lipid modification that anchors Rhes to the membrane-disrupts its binding to Slc4a7 and abolishes TNT formation. Slc4a7 knock-out mice showed markedly reduced cell-to-cell transmission of mHTT in the striatum in vivo. Together, these findings uncover a previously unrecognized Rhes-Slc4a7 signaling axis critical for TNT-mediated mHTT transmission and highlight Slc4a7 as a potential therapeutic target to limit disease spread in HD.

#2

Huntingtin (HTT) interactome in regulation of DNA repair/remodeling and RNA processing pathways.

Life science alliance2026 Jun

Huntington's disease (HD), an uncurable neurodegenerative disorder, is caused by CAG repeat expansion in the HD gene encoding mutant huntingtin protein. DNA damage response is implicated in HD pathogenesis. We used multiple approaches to assess normal and mutant HTT interactomes in the context of genotoxic stress. We show that double-strand break (DSB) repair response is impaired in HD neurons, which are more vulnerable to DSB-induced stress. We found that S1181 phosphorylation of HTT is regulated by DSB, and can be carried out by DNA-PK. Functional interaction of HTT with a major DSB kinase DNA-PKcs and association of both proteins with nuclear speckles suggest a role of HTT in DSB repair mechanism; however, physiological outcome of these interactions remains to be examined. We revealed HTT interactions with other proteins associated with nuclear speckles, TCERG1 and MED15, whose loci are genetic modifiers for HD, and with chromatin remodeling complex BAF. These interactions may position HTT as an important scaffolding intermediary providing integrated regulation of gene expression and RNA processing in the context of DNA repair mechanisms.

#3

Self-inactivating AAV-CRISPR at different ages enables sustained amelioration of Huntington's disease deficits in BAC226Q mice.

Science advances2026 Mar 20

Huntington's disease (HD) is a monogenic autosomal dominant neurodegenerative disorder caused by a CAG repeat expansion in exon 1 of the HTT gene, yielding a gain-of-toxic-function mutant Huntingtin protein (mHTT). CRISPR-Cas9 is a potentially powerful therapeutic strategy for HD by eliminating mutant HTT (mHTT) gene. We developed a specific SaCas9 guide RNA to target human mHTT and a self-inactivating gene editing system that abolishes SaCas9 after a short transient expression for high gene editing efficiency and maximal safety to prevent off-target effects. Both conventional and the self-inactivating gene editing systems successfully eliminated mHTT gene, 60 to 90% mHTT protein and 90% of mHTT aggregation in BAC226Q mouse brains, which resulted in significant long-term rescue of neuropathology, motor deficits, weight loss, and shortened life span. These beneficial effects were observed when gene editing was applied before, at, and well after the onset of pathological and behavioral abnormalities. These proof-of-concept data demonstrate that gene editing can be a highly effective therapeutic approach for HD.

#4

Lowering the HTT1a transcript as an effective therapy for Huntington's disease in a knockin mouse model.

Science translational medicine2026 Mar 18

Lowering huntingtin (HTT) transcript levels has been a major focus of therapeutic development for Huntington's disease (HD), but which transcript should be lowered? HD is caused by a CAG repeat expansion in exon 1 of the HTT gene, and the rate of somatic expansion of this CAG repeat throughout life drives the age of onset and rate of disease progression. As the CAG repeat expands, the extent to which the HTT mRNA is alternatively processed to generate the HTT1a transcript and highly aggregation-prone and pathogenic HTT1a protein increases. Several HTT-lowering modalities have entered clinical trials that target either both HTT and HTT1a together or full-length HTT alone. We have developed siRNAs that target the Htt1a mouse transcript (634/486) and used these, together with a potent Htt-targeting siRNA (10150), to compare the efficacy of lowering either full-length Htt or Htt1a. zQ175 and wild-type mice were treated with 10150 or 634/486 alongside control groups at 2 months of age and euthanized at 6 months, at 2 months and again at 6 months and euthanized at 10 months, or at 6 months and euthanized at 10 months. The siRNA potency and durability were most effective in the hippocampus. Although both strategies showed benefits, despite the greater potency of 10150, targeting Htt1a was more effective at delaying HTT aggregation and transcriptional dysregulation than targeting full-length Htt. These data support HTT-lowering strategies that are designed to target the HTT1a transcript, either alone or together with lowering full-length HTT.

#5

Selective targeting of mutant huntingtin intron 1 improves rescue provided by antisense oligonucleotides in Huntington's disease mice.

Science translational medicine2026 Mar 18

Huntington's disease (HD) arises from the toxic gain of function caused by a CAG expansion in the coding region of the huntingtin (HTT) gene. HD is increasingly appreciated to emerge from multiple pathogenic processes, including somatic instability in mutant HTT's (mHTT) CAG repeat tract, which leads to diverse deleterious consequences. These include the alternative processing of HTT pre-mRNA to generate the HTT1a transcript that encodes the very toxic mHTT isoform referred to as HTT1a. We set out to compare the efficacy and safety of allele-selective lowering of mHTT with those of non-allele-selective lowering using antisense oligonucleotides (ASOs) in heterozygous HttQ111 (Q111) mice. We developed a mutant-specific ASO (MutASO) targeting Htt intron 1 that selectively reduced mutant full-length HTT, as well as HTT1a, in the brains of Q111 mice. Compared with the rescue provided by a panallele-targeting ASO (PanASO) that lowers wild-type HTT and full-length mHTT (sparing HTT1a), the MutASO essentially eliminated aggregate formation and provided marked protection from transcriptional dysregulation in HD knockin mice. Thus, by targeting the ASO to the region upstream of the cryptic polyadenylation sites required to generate the HTT1a transcript, our allele-selective MutASO potently reduced HTT1a transcript and protein levels. Our findings suggest that HTT1a may have a disproportionate impact on aggregate formation and transcriptional dysregulation and that lowering the levels of HTT1a could provide benefit when designing HTT-lowering-based therapeutic strategies for HD.

Publicações recentes

Pharmacological evaluation of Orai-1 inhibitor in 3-nitropropionic acid-induced Huntington disease.

J Pharm Pharmacol2026 Apr 3

Comprehensive Review of Anesthetic Strategies for Patients With Neurodegenerative Diseases.

Med Sci Monit2026 Apr 11

Higher educational attainment in Huntington disease families: evidence from the Enroll-HD study.

Orphanet J Rare Dis2026 Apr 9

A case of chorea, epilepsy and cerebral atrophy in the work of Ettore Ravenna (1920s).

Pathologica2026 Feb

Extensive transcriptomic changes in cellular and animal models of Huntington's disease depending on the length of CAG repeats in the exon 1 of the HTT gene.

Biochem Biophys Res Commun2026 Apr 1

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📚 EuropePMC2.053 artigos no totalmostrando 199

Journal of the American Statistical Association

SPARCC: Semi-Parametric Robust Estimation in a Right-Censored Covariate Model.

Membrane-associated Rhes-Slc4a7 complex orchestrates tunneling nanotube formation and mutant Huntingtin spread.

Science advances

Huntingtin (HTT) interactome in regulation of DNA repair/remodeling and RNA processing pathways.

Life science alliance

Self-inactivating AAV-CRISPR at different ages enables sustained amelioration of Huntington's disease deficits in BAC226Q mice.

Science advances

Science translational medicine

Lowering the HTT1a transcript as an effective therapy for Huntington's disease in a knockin mouse model.

Science translational medicine

Selective targeting of mutant huntingtin intron 1 improves rescue provided by antisense oligonucleotides in Huntington's disease mice.

Mitochondria "Shackled" by Mutant Huntingtin: Analysis of Morphological Alterations and Disruptions of Intracellular Transport.

Biochemistry. Biokhimiia

Genetic testing and molecular biomarkers

CRISPR Gene Editing for Nucleotide Repeat Expansion Disorders: A Systematic Review of Preclinical and Clinical Evidence.

Proceedings of the National Academy of Sciences of the United States of America

High-affinity, structure-validated and selective macrocyclic peptide tools for chemical biology studies of Huntingtin.

The Journal of clinical investigation

Decoding neurodegeneration one cell at a time.

CNS & neurological disorders drug targets

Synergistic Roles of Neuropeptide S and Environmental Enrichment in Preclinical Huntington's Disease Depression Models.

A Two-Track Model of Huntington's Disease Pathology: Striatal Atrophy Mediates Maladaptive Immune Dysregulation.

Topology constrained nonnegative matrix factorization for time varying omic expression.

Revisited case for intranasal neuropeptide Y based therapeutics: From preclinical to clinical.

Neuropeptides

The Journal of neuroscience : the official journal of the Society for Neuroscience

ALS and Huntington Disease: Unraveling the Connections between TDP-43 and Huntingtin.

Testing and Quantifying Site-Level Variability in Diagnostic Sensitivity of an Anchor Variable.

Statistics in medicine

A clinimetric evaluation of the problem behaviors assessment short form (PBA-s) within the context of the Huntington's disease integrated staging system (HD-ISS).

Proceedings of the National Academy of Sciences of the United States of America

Huntington's disease LIG1 modifier variant increases ligase fidelity and suppresses somatic CAG repeat expansion.

International journal of nanomedicine

Surface-Engineered Precision Nano-Systems for Targeted Treatment of Huntington's Disease: A Review of Recent Advancements.

Abnormal cortical development sets the stage in Huntington disease.

Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology

Electroencephalography biomarkers in Huntington's disease: A systematic review of resting-state and sleep EEG alterations.

Cellular and molecular life sciences : CMLS

Role of mitochondria in neuronal function and survival in the enteric and central nervous systems.

Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics

Silmitasertib, an FDA-designated orphan CK2 inhibitor, ameliorates neuropathology and motor dysfunction in a Huntington's disease mouse model.

Brain pathology (Zurich, Switzerland)

The DNA/RNA autophagy protein SIDT2 as a novel neuropathological hallmark in Huntington disease.

Tijdschrift voor psychiatrie

[Electroconvulsive therapy in a patient with Huntington's disease and depression: a case-report].

Ubiquitin ligase Nedd4 regulates the abundance and toxicity of mutant huntingtin.

JCI insight

What is the prevalence of sleep disturbances among people with Huntington disease and pre-manifest genetic expansion carriers? A systematic review and meta-analysis.

Sleep medicine reviews

Glucose transporter 3 gene deficiency modifies Huntington's disease progression in zQ175 model mice.

Neuroinflammatory control of metabolism in huntington's disease: central role of P2 × 7 receptor mediated redox lipid/epigenetic crosstalk.

Inflammopharmacology

Journal of the American Chemical Society

PROTAC-Mediated Degradation of mHTT Aggregates Attenuates Neurotoxicity in Cellular and R6/2 Mouse Models of Huntington's Disease.

ACS chemical neuroscience

Anisosmotic Modulation of Mutant Huntingtin Aggregation vis-a-vis HSP70 Induction─Implications for Aging, Hypo-Hydration, and Neurodegeneration.

Bioinformatics (Oxford, England)

From genes to trajectories: mapping genetic influences on Huntington's disease progression.

Trends in molecular medicine

Huntington's disease is the best investment in neuroscience today.

Differences in white matter detected by ex vivo 9.4 T MRI are associated with axonal changes in the R6/1 model of Huntington's disease.

Neurobiology of disease

Aberrant medial ganglionic eminence (MGE) GABAergic neurogenesis contributes to Huntington's disease pathogenesis.

Neurobiology of disease

Safety and efficacy of VMAT2 inhibitors in Huntington Disease: A systematic review.

Decreased Physical Activity as an Early Digital Biomarker in Huntington's Disease: A One-Year Observational Study.

Brain and behavior

Handbook of clinical neurology

Secondary tics: Etiology, presentation, and management.

Health expectations : an international journal of public participation in health care and health policy

Co-Design of a New Integrated Care Model With People Affected by Huntington's Disease: A Mixed Methods Study.

Annals of clinical and translational neurology

Functional and Structural Evidence of Neurofluid Circuit Aberrations in Huntington Disease.

Transcriptional responses to proteotoxic stressors are profoundly diverse and tissue-specific.

Cell stress & chaperones

Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology

Abnormal Resting-State EEG delta and alpha rhythms in Huntington's and Alzheimer's Diseases: An exploratory study.

Executive Impairment in Huntington's Disease: Insights From a Systematic Review of the Literature.

Brain and behavior

Brain : a journal of neurology

Non-Huntington's disease chorea: an expanding universe with acquired causes.

Sociology of health & illness

Non-Directiveness and Authenticity in the Predictive Genetic Clinic.

International journal of biological sciences

Exploring huntington's disease from a neurodevelopmental perspective.

Drug development research

From Cancer to Neuroprotection: Pazopanib Modulates the RIPK1/RIPK3/MLKL and PGAM5/DRP1 Pathways in 3- Nitropropionic Acid-Induced Huntington's Disease.

Silencing of human HTT by targeted CRISPR/dCas9-mediated epigenetic editing.

Computer methods and programs in biomedicine

Shape matters: Predicting Huntington's disease using progression modelling.

Current knowledge of Huntington's disease-like 2 genetic testing, clinical presentation, and patient experiences: A systematic review.

Proceedings of the National Academy of Sciences of the United States of America

GFP-free live neuron quantitative imaging reveals compartmentalization and growth dynamics of polyQ aggregates.

Pharmacological reports : PR

Dysregulation of store-operated calcium entry in fibroblast lines from adult and juvenile-onset Huntington's disease patients.

Journal of molecular neuroscience : MN

Decoding Non-Neuronal Mechanisms and Therapeutic Targets in Huntington's Disease Through Integrative Transcriptomics and Machine Learning.

Signal transduction and targeted therapy

Astrocytic noncanonical WNT5B signaling modulates extracellular matrix remodeling and neuropathology in Huntington's disease.

Neurology. Clinical practice

Efficacy and Safety of VMAT2 Inhibitors in the Treatment of Huntington Disease: A Meta-Analysis of Randomized Clinical Trials.

Alzheimer's & dementia : the journal of the Alzheimer's Association

Discovery of disrupted sustained attention and altered functional connectivity in far-from-onset Huntington's disease gene-expanded young adults.

Blood-brain barrier integrity and prevalence of intrathecal T helper 17.1 cells in Huntington´s disease.

PloS one

Fingolimod Effects on Motor Function and BDNF-TrkB Signaling in a Huntington's Mouse Model Are Disease-Stage-Dependent.

Daily intranasal resveratrol-conjugated gold nanoparticles administration promotes neuroprotection and improves neurological outcome in the R6/2 mouse model of Huntington's disease.

Korean journal of clinical oncology

Dynamics of autophagy in response to high linear energy transfer radiation and cancer.

Proceedings of the National Academy of Sciences of the United States of America

Prevention of ubiquitination at K6 and K9 in mutant huntingtin exacerbates disease pathology in a knock-in mouse model.

Eye manifestations in Huntington's disease: an update on the potential of ocular biomarkers.

Oral splicing modulator branaplam in Huntington's disease: a phase 2 randomized controlled trial.

Nature medicine

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology

Programmed cell death pathways in huntington's disease: spotlight on ferroptosis and pyroptosis.

Advances in experimental medicine and biology

Nursing in Huntington's Disease and Cell and Gene Therapy.

Huntington's disease-associated ankyrin repeat palmitoyl transferases are rate-limiting factors in lysosome formation and fusion.

PLoS genetics

[Huntington's disease presenting with schizophreniform psychosis and narcolepsy in the premotor phase].

Orvosi hetilap

Transcriptomics-based analysis of key genes and potential mechanism and therapeutic agents in cadmium-induced esophageal squamous cell carcinoma progression.

Localization of mutant huntingtin with HTT Exon1 P90 C-terminal neoepitope antibodies in relation to regional and neuronal vulnerability in forebrain in Q175 mice and human huntington's disease.

Genetic testing for Huntington's disease: Past, present and future. How could genetic data be used to improve clinical practice?

Small Gold Nanoparticles Alleviate Huntington's Disease via Modulating p38α Mitogen-Activated Protein Kinase and Pyruvate Dehydrogenase Kinase 1.

ACS nano

A deficit in semantic word learning in Huntington's disease.

Neuropsychologia

Neuronal mitochondrial disaggregase CLPB ameliorates Huntington's disease pathology in mice.

Theranostics

Sequence Variants in Small CAG Repeat Expansions of the HTT Gene and Disease Onset and Progression in Huntington Disease.

Neurology

Beyond CAG Repeat Length: The Role of Sequence Variants in Huntington Disease.

Neurology

Journal of child neurology

Navigating the Uncommon: "Juvenile-Onset Huntington Disease".

Expert review of neurotherapeutics

Physician experience and perceptions of tetrabenazine for the treatment of tardive dyskinesia and Huntington's chorea: a survey of neurologists and psychiatrists.

Journal of molecular medicine (Berlin, Germany)

Preclinical evaluation of [11C]CHDI-009R for quantification of mutant huntingtin aggregates.

Neurorehabilitation and neural repair

Cortical Correlates of Balance During Single and Dual Tasks in Huntington's Disease: A Preliminary fNIRS Study.

The clinical phenotype of carriers of intermediate alleles in the huntingtin gene: A scoping review.

Reading Between the Striatal Lines: Magnetic Resonance Imaging Insights Into Huntington Disease.

Ochsner journal

Axial Spinal Traction as a Potential Modulator of Cerebrospinal and Glymphatic Circulation in Neurodegenerative Diseases: A Technical Report and Biomechanical Hypothesis.

Cureus

β-Blocker effects in huntington's disease: A caution on clinical interpretation.

The Journal of biological chemistry

Epitope-specific antibodies can distinguish between soluble huntingtin exon-1 and its diverse cellular aggregates.

A human CAGinSTEM platform for decoding HTT repeats' somatic instability links CAG interruption to HD pathology in neurons.

Cell reports

The primary care companion for CNS disorders

Diagnostic Challenges in Distinguishing Huntington Disease From Tardive Dyskinesia.

Do cognitive tests capture symptoms that matter to people with Huntington's disease?

Acta neuropathologica communications

The profiling of extracellular vesicle subtypes in Huntington's disease brains identifies Alix as a novel marker of neuropathology.

Acta neuropathologica communications

Differential effects of overexpression of mutant huntingtin and TDP-43 in agouti-related protein neurons in the arcuate nucleus of the hypothalamus in mice.

Huntingtin protein in health and Huntington's disease: Molecular mechanisms, pathology and therapeutic strategies.

Ageing research reviews

Inhba, Homer1 and Bdnf are major targets of transcriptomic dysregulation by neurodegenerative disease-associated excitotoxic NMDA receptor signaling.

Communications biology

Handgrip strength and the Index of pulmonary dysfunction: Practical screening tools for cough dysfunction in huntington's disease.

Levodopa differentially modulates spectral features in cerebellum and basal ganglia in a rodent model of Parkinson's disease.

Molecular therapy : the journal of the American Society of Gene Therapy

The impact of tau deletion on Huntington's disease: An in vivo perspective.

Post-Translational Modifications of Huntingtin: Mechanistic Insights and Therapeutic Opportunities in Huntington's Disease.

Effects of computerized cognitive training on functional activity and connectivity in Huntington's disease: A pilot study.

Huntington's disease clinical trials update: October 2025.

Juvenile Huntington Disease: Timing Is Everything.

Neurology

Autophagy and mitophagy at the synapse and beyond: implications for learning, memory and neurological disorders.

Autophagy

Sigma-2 Receptor Antagonism Enhances the Neuroprotective Effects of Pridopidine, a Sigma-1 Receptor Agonist, in Huntington's Disease.

Molecular neurobiology

Association between sleep disorder, sarcopenia, physical activity and clinical progression in people with Huntington's disease: A one-year longitudinal study using wearable technology.

Sleep medicine

Amelioration of transcriptional disturbances in female BACHD rats by environmental enrichment.

Kinetic Mechanism of Substoichiometric Inhibition of Huntingtin Exon-1 Protein Aggregation by Selenium Nanoparticles.

Small science

Unbiased human genomic characterization of polyglutamine disorder genes to guide biological understanding and therapeutic strategies.

HGG advances

Cognitive, affective & behavioral neuroscience

Decision context and neurobehavioural disturbance in Huntington's disease.

Journal of pharmacological sciences

Endothelial NLRP3-mediated pyroptosis induces blood-brain barrier and neuronal damage in Huntington's disease models.

Journal of neuroimmune pharmacology : the official journal of the Society on NeuroImmune Pharmacology

Neuroprotective Effects of Glucosamine in Huntington's Disease Through NLRP3 Inflammasome Inhibition.

Simple diameters, accurate stages:a practical approach to HD-ISS staging.

Suppression of Huntington's Disease Somatic Instability by Transcriptional Repression and Direct CAG Repeat Binding.

Nature communications

Lessons learned from 30 years of presymptomatic testing in Huntington Disease.

Revue neurologique

Nature reviews. Neurology

Huntington disease: somatic expansion, pathobiology and therapeutics.

Journal of nuclear medicine : official publication, Society of Nuclear Medicine

In Vivo PET Imaging of [18F]CHDI-385, a Radioligand for Mutant Huntingtin Aggregates in a Mouse Model of Huntington Disease.

Methylene Blue Attenuates 3-Nitropropionic Acid-Induced Oxidative Stress and Mitochondrial Dysfunction in Striatal Cells: Therapeutic Implications in Huntington's Disease Neuropathology.

Movement disorders : official journal of the Movement Disorder Society

Depression in Premanifest Huntington's Disease: Aberrant Effective Connectivity of Striatum and Default Mode Network.

Journal of Alzheimer's disease : JAD

Utility of a contemporary digital cognitive-motor biomarker in Huntington's and Parkinson's diseases.

Huntington's Disease and Psychiatric Comorbidities: A Retrospective Study in Portugal.

Acta medica portuguesa

Acta neuropathologica communications

Pathobiology of the autophagy-lysosomal pathway in the Huntington's disease brain.

uniQure Gene Therapy Significantly Slows Huntington Disease Progression.

Human gene therapy

Science translational medicine

Beyond Alzheimer's disease-translating biomarker insights across CNS diseases.

Stem cell research & therapy

A phase I, open-label study of intravenous human dental pulp stem cells (NestaCell®) at two dose levels in patients with Huntington's disease.

Prevalence of living alone with dementia and other progressive neurological conditions: findings from primary care data in England.

BMC medicine

Psychosocial Impacts of Huntington's Disease on Individuals, Relatives and Family Systems: A Thematic Synthesis.

Clinical genetics

BioFactors (Oxford, England)

Bromelain Alleviates 3-Nitropropionic Acid-Induced Huntington's Disease-Like Symptoms in Rats Through the Interplay of SIRT1/PGC-1α and FOXO3a Pathways.

Dendritome mapping reveals the spatial organization of striatal neuron morphology.

Nature neuroscience

Consolidation deficits in episodic memory define distinct clinical and neurodegenerative profiles in Huntington's disease.

NeuroImage. Clinical

CRISPR-based gene therapy for huntington's disease: current advances and future prospects.

Neurogenetics

Molecular diagnosis & therapy

The Evolving Landscape of Stem Cell Therapies for Huntington's Disease.

Emotion recognition in people with Huntington's disease: A comprehensive systematic review.

Handbook of clinical neurology

The motor system and motor disorders.

Huntingtin knockdown dysregulates autophagic degradation of Apolipoprotein E.

Journal of molecular neuroscience : MN

Unconventional Non-rodent Models in Neurological Research: Exploring New Paths to Translational Insights.

Morphological and functional phenotyping of skeletal muscle and bone in the zQ175 knock-in mouse model of Huntington's disease.

Journal of neurochemistry

BDNF Mitigates Early Oxidative Stress and Promotes Release of Neuroprotective Mitochondria From Striatal Astrocytes of zQ175 Huntington's Disease Mice.

Disease models & mechanisms

Brain organoid models of Huntington's disease shift the focus towards neurodevelopment.

Journal of human nutrition and dietetics : the official journal of the British Dietetic Association

Risks and Benefits of Gastrostomy in Non-Motor Neurone Disease Progressive Neurological Diseases: A Systematic Review.

Mechanism of trinucleotide repeat expansion by MutSβ-MutLγ and contraction by FAN1.

Nature communications

Impairment of lysosomal quality control in Huntington disease.

Cell death & disease

AAV9-Mediated Intrastriatal Delivery of Mutant HTT With 82 CAG Repeats Induces Huntington's Disease-Like Pathology and Behavioral Deficits in Mice.

Clinical genetics

Longitudinal investigation of structural and resting-state effective connectivity alterations in a non-human primate model of Huntington's disease.

Neurobiology of disease

Exploring the interaction between nucleotide excision repair pathways and Huntington disease: Implications for neurodegeneration and phenotypic overlap.

The HEK293T cells manage overload by the overexpressed full-length Htt variants via proteasome activation.

Biochimie

Inhibiting Cytosine-Adenine-Guanine (CAG) repeat expansions as a therapeutic strategy for Huntington's disease.

Biochemical pharmacology

Journal of the history of the neurosciences

Camillo Golgi and the pathology of Huntington's disease: An unresolved controversy.

Journal of medical case reports

Bariatric surgery and semaglutide in a youth with juvenile Huntington disease and severe obesity: a case report.

Ticagrelor as a dual RAS modulator and mitochondrial stabilizer: A multifaceted neurotherapeutic strategy in Huntington's disease.

Neuropharmacology

Effective housing and support models for people with Huntington's disease: A scoping review.

European journal of neurology

Update on Genetic Chorea.

Challenges in Polyglutamine Diseases: From Dysfunctional Neuronal Circuitries to Neuron-Specific CAG Repeat Instability.

Challenging or less challenging oral diadochokinetic tasks-what works best in Huntington disease? A cross-sectional study.

Genetic dissection of Huntington's disease modification by variation at RRM2B.

Human molecular genetics

Isometric force matching in the TRACK-HD study - a novel quantitative assessment for clinical applications?

Revolutionizing Huntington's Disease Treatment: Breakthroughs in AAV-Mediated Gene Therapy.

Cells

The Journal of clinical investigation

3D cultured human medium spiny neurons functionally integrate and rescue motor deficits in Huntington's disease mice.

Huntington's disease in MENAT: systematic review and meta-analysis of prevalence, clinical features, and genetics.

Neurologia i neurochirurgia polska

The association between smoking and Huntington's disease symptom onset and progression - results from Enroll-HD: The observational cohort study of people with Huntington's disease.

Movement disorders : official journal of the Movement Disorder Society

Systematic Review with Meta-Analysis of Biofluid Markers for Huntington's Disease.

Prevalence, characteristics, and clinical outcomes of Huntington's disease in Sub-Saharan Africa: A systematic review and meta-analysis.

Huntington's Disease and Huntington's Disease-like 2 (HDL2) in Martinique.

Molecular therapy. Nucleic acids

Molecular and imaging biomarker responses to brain mutant HTT lowering in a mouse model of Huntington disease.

General hospital psychiatry

Psychosis in Huntington's disease: A systematic review of case reports.

Development of cognitive, motor, metabolic, and mutant huntingtin aggregation in the zQ175 mouse model of Huntington's disease.

Substantia Nigra as Brainstem Signature in Pediatric-Onset Huntington's Disease: The RAREST-JHD Study.

Targeted genome editing of ZKSCAN3 mitigates the neurotoxicity caused by mutant HTT (huntingtin) in a Huntington disease animal model and three-dimensional cell culture of Huntington disease.

Autophagy

In a first, a gene therapy seems to slow Huntington disease.

Science (New York, N.Y.)

Association of alcohol responsiveness and non-motor symptoms in isolated adult-onset dystonia.

Comparison of tetrabenazine, tiapride and olanzapine in Huntington's disease: a one-year French randomized multicenter study (Neuro-HD).

A Typical Neuroaxonal Dystrophy or an Atypical Form of Huntington Disease?

Pediatric neurology

BA9 Transcriptomics in Huntington's Disease 80-Gene Signature and MIR219A2-Linked Targets.

Generating a Cell Model to Study ER Stress in iPSC-Derived Medium Spiny Neurons from a Patient with Huntington's Disease.

Medical sciences (Basel, Switzerland)

Efficacy and Safety of VMAT-2 Inhibitors and Dopamine Stabilizers for Huntington's Chorea: A Systematic Review, Meta-Analysis, and Trial Sequential Analysis.

Movement disorders : official journal of the Movement Disorder Society

Cerebrospinal Fluid Proenkephalin Predicts Striatal Atrophy Decades before Clinical Motor Diagnosis in Huntington's Disease.

Movement disorders : official journal of the Movement Disorder Society

Preoperative Functional Connectivity Predicts Antiparkinson Drug Change after Deep Brain Stimulation.

Movement disorders : official journal of the Movement Disorder Society

Interplay Between Sex and Cytosine-Adenine-Guanine-Age Product Score in Huntington's Disease: Clinical and Neuroimaging Perspectives.

Computers in biology and medicine

Automatic motor and visuospatial cognition screening with ensemble learning: A computerised clock drawing test approach.

Decreased cerebral ATP in pre-motor manifest Huntington's disease: A pilot study.

Imaging for Huntington Disease.

Radiologic technology

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology

Efficacy of aripiprazole in pediatric-onset Huntington's disease: a case report and literature review.

Biochimica et biophysica acta. Proteins and proteomics

Understanding Huntingtin protein aggregation in cell mimicking environments.

Dietary patterns and fasting behaviors in Huntington's disease population: A cross-sectional survey study.

Nutrition and health

Gangliosides modulate the secretion of extracellular vesicles and their misfolded protein cargo.

Science advances

Neuroprotective effects of candesartan in 3-nitropropionic acid-induced Huntington's disease: modulation of angiotensin and CREB/BDNF/PGC1-α signaling.

Inflammopharmacology

Advancing Mitochondrial Health in Huntington Disease (HD): Small Molecule Therapies and Neurodegeneration.

Current aging science

Progressively reduced cerebral oxygen metabolism and elevated plasma NfL levels in the zQ175DN mouse model of Huntington's disease.

A rare genetic variant confers resistance to neurodegeneration across multiple neurological disorders by augmenting selective autophagy.

Neuron

Molecular Imbalances Between Striosome and Matrix Compartments Characterize the Pathogenesis and Pathophysiology of Huntington's Disease Model Mouse.

Coiled-Coil Structures Mediate the Intercellular Propagation of Huntingtin.

Mapping the landscape of caregiver burden in Huntington's Disease: Current evidence and future directions.

Trends in biochemical sciences

Membranes as targets and modifiers of mutant huntingtin aggregation.

Potential repurposing of lapatinib and pazopanib as neuroprotective agents in a rat model of Huntington's disease.

Inflammopharmacology

Using a Brief Body Sway Assessment Device to Track Balance Differences across the Huntington's Disease Integrated Staging System Spectrum.

Huntington's disease-like 2 patients' profile in a Brazilian cohort.

Huntington's chorea: emerging fields in therapeutics (Review).

Neurogenetics

Pridopidine in early-stage manifest Huntington's disease: a phase 3 trial.

Nature medicine

Tipping the PARylation scale: Dysregulation of PAR signaling in Huntington and neurodegenerative diseases.

The aging factor EPS8 induces disease-related protein aggregation through RAC signaling hyperactivation.

Nature aging

How Early Does Anosognosia Begin in Huntington's Disease?

Mapping iron content and white matter integrity in the anterior thalamic radiations across Huntington's disease stages.

NeuroImage. Clinical

Progress on 3-Nitropropionic Acid Derivatives.

Biomolecules