- Length
- 3142 aa
- Mass
- 347.6 kDa
- Annotated
- 2026-04-28
130 papers in source corpus
27 papers cited in narrative
26 extracted findings
Mechanistic narrative
Synthesis pass · prose summary of the discoveries below
Insufficient on-target evidence to synthesize a narrative — discovery timeline does not match the canonical HTT protein.
Mechanism profile
Synthesis pass · controlled-vocabulary classification · explore literature graph →
No controlled-vocabulary terms were assigned to this entry.
Evidence
Reading pass · 26 per-paper findings extracted from the source corpus
| Year | Finding | Method | Journal | Conf | PMIDs |
|---|---|---|---|---|---|
| 1995 | The HTT gene product is a ~350 kDa protein widely expressed in neurons throughout the brain, with no enrichment in the striatum (the site of greatest pathology). Within neurons, huntingtin is present in the soluble cytoplasm and loosely associated with membranes or cytoskeleton, and is concentrated in nerve terminals including those in the caudate and putamen, suggesting a role in nerve terminal function. | Immunohistochemistry and subcellular fractionation using antibodies against N-terminal and internal epitopes of the HTT protein | Neuron | High | 7748554 8240819 |
| 1995 | In HD patients, both alleles of the IT15/HTT protein are expressed at similar levels in relatively spared brain regions. In severely affected regions (cortex and caudate), the expanded-repeat allele is present at lower levels and shows a smear of more slowly migrating reactivity, suggesting altered structure, abnormal processing, or abnormal protein-protein interactions of the polyglutamine-expanded HTT. | Quantitative Western blot analysis on 4% polyacrylamide gels of HD patient post-mortem brain tissue and lymphoblastoid cell lines | Human molecular genetics | Medium | 7581375 |
| 1998 | The HD gene promoter contains two tandemly repeated Sp1 sites that act synergistically as a key positive-acting regulatory element. This region is polymorphic, and a single Sp1 site variant is associated with reduced transcription. Differential control of HTT expression exists between neuronal and non-neuronal cell lines. | Reporter gene assays in neuronal (SK-N-SH) and non-neuronal (JEG3) cell lines with deletion and mutagenesis analysis of the 5' upstream region | Human molecular genetics | Medium | 9536082 |
| 2000 | Full-length huntingtin, in alternate forms distinguished by epitope accessibility, localizes to different sets of nuclear and perinuclear organelles involved in RNA biogenesis and membrane trafficking. Mutant STHdh(Q111) cells exhibit dominant phenotypes distinct from those caused by huntingtin deficiency or excess, including elevated p53, endoplasmic reticulum stress response, and hypoxia pathway activation, indicating the mutant protein disrupts striatal homeostasis via a mechanism separate from its normal activity. | Immunofluorescence and subcellular localization in striatal cell lines from wild-type and Hdh(Q111) knock-in embryos; comparison of phenotypes between wild-type and mutant cell lines | Human molecular genetics | Medium | 11092756 |
| 2000 | Neurotrophic factors FGF-2 and NGF regulate huntingtin protein levels in striatal neuronal cultures in a dose-dependent, factor-specific manner: FGF-2 increases huntingtin levels while NGF decreases them. | Western blotting of striatal cell cultures treated with growth factors | Cell transplantation | Low | 11144959 |
| 2011 | Huntingtin is required for neuronal migration, proliferation, and survival in neocortex during early brain development. Knockdown of Htt in neuroepithelial cells causes disturbed cell migration, reduced proliferation, and increased cell death that is relatively specific to early neural development. In the cerebellum, Htt knockdown causes cell death but not migration defects. The cortical cell death phenotype is partially reversed by co-knockdown of Caspase-9, implicating mitochondria-mediated apoptotic processes. | In utero electroporation-mediated RNAi knockdown of Htt in mouse neocortex and cerebellum; rescue experiments with Casp9 co-knockdown | The Journal of neuroscience | High | 21994396 |
| 2013 | The first 17 amino acids (N17) of huntingtin function as a nuclear export sequence (NES). Mutation of conserved residues within N17 increases nuclear accumulation of Htt exon 1, and nuclear export is sensitive to leptomycin B and reduced by knockdown of exportin 1 (CRM1). In HEK293 cells, NES mutations decrease overall Htt aggregation but increase the fraction of cells with nuclear inclusions; in primary neurons, NES mutations increase nuclear accumulation and increase overall aggregation. | Site-directed mutagenesis of N17 residues, leptomycin B treatment, exportin 1 siRNA knockdown, fluorescence microscopy in HEK293 cells and primary neurons | The Journal of biological chemistry | High | 23319588 |
| 2014 | Mutant huntingtin directly interacts with IKKγ (NEMO), leading to increased IκB degradation and subsequent nuclear translocation of RelA (NF-κB p65), causing excessive inflammatory cytokine production in human HD myeloid cells. Lowering HTT with siRNA reverses these NFκB-pathway-related immune dysfunction phenotypes. | Co-immunoprecipitation of mutant HTT with IKKγ; measurement of IκB degradation and RelA nuclear translocation; siRNA-mediated HTT knockdown via glucan-encapsulated particles in primary human HD monocytes/macrophages | Brain | High | 24459107 |
| 2015 | Full-length expanded HTT (expHTT) RNA is retained in the nucleus. The splicing factor MBNL1 increases nuclear retention of expHTT and decreases cytosolic expHTT protein expression, while the splicing/export factor U2AF65 has the opposite effect, decreasing nuclear retention and increasing cytoplasmic expHTT protein. An expHTT RNA fragment is cytotoxic in the absence of translation. | Overexpression of MBNL1 and U2AF65 in cells expressing expHTT; nuclear/cytoplasmic fractionation and Western blot; cytotoxicity assays with translation-incompetent constructs | Scientific reports | Medium | 26218986 |
| 2017 | Incomplete splicing of the huntingtin pre-mRNA between exon 1 and exon 2 produces a small polyadenylated transcript (HTTexon1) encoding the highly pathogenic exon 1 HTT protein. The level of this read-through product is proportional to CAG repeat length. HTTexon1 mRNA is present in fibroblasts from juvenile HD patients and in post-mortem brain tissue from HD individuals. | Quantitative RT-PCR protocols specific for HTTexon1 transcript in human fibroblast lines and post-mortem brain samples; comparison across adult-onset and juvenile-onset HD patients | Scientific reports | High | 28465506 |
| 2017 | A trimeric chaperone complex composed of Hsc70, Hsp110, and a J-protein (DNAJB1) completely suppresses fibrilization of HttExon1Q48 and can also resolubilize pre-formed Htt fibrils. Among the three components, the J-protein is the concentration-limiting factor; overexpression of DNAJB1 alone in HEK293T cells is sufficient to profoundly reduce HttExon1Q97 aggregation. | In vitro fibrilization assays with purified chaperone components; disaggregation assays; overexpression in HEK293T cells; validation in HD patient-derived neural cells and C. elegans | The EMBO journal | High | 29212816 |
| 2018 | Phosphorylation of huntingtin exon 1 at Ser-13 and/or Ser-16 inhibits aggregation of mutant Httex1 and strongly disrupts the amphipathic α-helix of the N-terminal 17-residue (Nt17) domain, impairing membrane binding. Only bona fide phosphorylation (not phosphomimetic substitution) prompts internalization and nuclear targeting of preformed Httex1 aggregates. A phosphorylation-dependent switch involving cross-talk between Thr-3 and Ser-13/Ser-16 regulates Httex1 structure. | In vitro phosphorylation of synthetic Httex1 peptides; circular dichroism and NMR analysis of α-helix disruption; membrane-binding assays; live-cell imaging of aggregate internalization and nuclear targeting; comparison of phosphorylated vs. phosphomimetic variants | The Journal of biological chemistry | High | 30185623 |
| 2018 | Mutant huntingtin causes intrinsic oligodendroglial dysfunction and myelination deficits through enhancement of polycomb repressive complex 2 (PRC2) activity in NG2+ oligodendrocyte progenitor cells. Selective inactivation of mHTT in the NG2+ population prevents myelin abnormalities and certain behavioral deficits, demonstrating cell-autonomous pathology in oligodendroglia independent of neuronal mHTT expression. | Conditional knockout of mHTT in NG2+ oligodendrocyte progenitors in HD mice; RNA-seq and ChIP-seq to identify PRC2 pathway as a mechanism; behavioral and histological analysis | Proceedings of the National Academy of Sciences of the United States of America | High | 31015293 |
| 2019 | Compounds that interact with both LC3 (autophagosome protein) and mutant HTT (via its expanded polyQ tract) selectively target mHTT to autophagosomes for autophagic clearance, reducing mHTT levels in an allele-selective manner. These autophagosome-tethering compounds do not interact with wild-type HTT, and also lower mutant ataxin-3, demonstrating that the polyQ expansion is the binding determinant. | Small-molecule microarray screening; co-immunoprecipitation of compounds with LC3 and mHTT; measurement of mHTT levels in cells, Drosophila, and mouse HD models; allele-selective quantification by HTT protein assay | Nature | High | 31666698 |
| 2019 | FAN1 (FANCD2/FANCI-associated nuclease 1) binds directly to the expanded HTT CAG repeat DNA and stabilizes it against somatic expansion. FAN1 overexpression reduces CAG repeat expansion in exogenously expressed mutant HTT exon 1; FAN1 knockdown increases CAG repeat expansion in patient-derived stem cells and medium spiny neurons. The protective effect is FAN1 concentration- and CAG repeat length-dependent, and does not require FAN1's nuclease activity. | FAN1 overexpression and knockdown in human cells and patient-derived stem cells/neurons; MiSeq-based CAG repeat length quantification; DNA-binding assay of FAN1 with expanded HTT CAG repeat DNA; nuclease-dead mutant experiments | Human molecular genetics | High | 30358836 |
| 2019 | Gpr52, an orphan G protein-coupled receptor, regulates mutant HTT protein levels in the striatum. Knockout of Gpr52 significantly reduces mHTT levels and rescues HD-associated behavioral phenotypes in a knock-in HD mouse model. A Gpr52 antagonist (E7) similarly reduces mHTT levels and rescues phenotypes in cellular and mouse models. | Gpr52 knockout in zQ175 knock-in HD mice; pharmacological inhibition with Gpr52 antagonist E7; mHTT level quantification by HTRF; behavioral testing | Brain | Medium | 29608652 |
| 2019 | FKBP5 interacts and colocalizes with HTT in the striatum and cortex. Decreasing FKBP5 levels by siRNA or pharmacological inhibition (SAFit2) reduces mutant HTT levels and increases LC3-II levels and autophagic flux, indicating that FKBP5 modulates mHTT clearance through autophagy in an MTOR-independent manner. | Co-immunoprecipitation and colocalization of FKBP5 and HTT in mouse brain; siRNA knockdown and SAFit2 inhibitor treatment in HD iPSC-derived neurons and mouse models; LC3-II Western blot for autophagic flux | Autophagy | Medium | 34024231 |
| 2019 | The polyproline (polyP) region of huntingtin can interact with the N-terminal 17-residue (Nt17) α-helical region, inhibiting nucleation and fibril formation of mutant Htt. Ion mobility spectrometry and gas-phase hydrogen-deuterium exchange coupled with MS and molecular dynamics simulations suggest the C-terminal portion of Nt17 is the primary contact point, and polyP may induce a random coil in this region to reduce the propensity for amyloid-competent amphipathic α-helix formation. | Atomic force microscopy time-course aggregation assays; ion mobility spectrometry-mass spectrometry; gas-phase H/D exchange MS; molecular dynamics simulations | Biochemistry | Medium | 31814404 |
| 2020 | HTT is present with Rab4-containing vesicles within axons in vivo and is required for the bidirectional motility of Rab4. HTT and Rab4 move together on a putative vesicle that may also contain synaptotagmin, synaptobrevin, and Rab11. The moving HTT-Rab4 vesicle uses kinesin-1 and dynein motors and the accessory protein HIP1 for bidirectional axonal transport. Pathogenic HTT disrupts HTT-Rab4 vesicle motility, causing synaptic accumulations, aberrant synaptic morphology, and decreased lifespan—phenotypes rescued by excess Rab4. | In vivo dual-color live imaging in Drosophila axons; genetic reduction of HTT; HIP1 accessory protein analysis; Rab4 overexpression rescue; iNeuron studies from human HD patients | Acta neuropathologica communications | High | 32611447 |
| 2021 | Small molecules can lower HTT expression by promoting inclusion of a pseudoexon containing a premature termination codon in HTT pre-mRNA (stop-codon psiExon), leading to mRNA degradation. These orally bioavailable splicing modulators achieve broad CNS distribution and reduce HTT levels consistently throughout CNS and periphery. | Identification of splicing modulators by cell-based screening; RT-PCR characterization of induced pseudoexon inclusion; HTT protein measurement in cells and in vivo mouse brain after oral dosing | Nature communications | Medium | 34911927 |
| 2022 | HTT interacts with several type I protein arginine methyltransferases (PRMTs) via its N-terminal domain. PRMT4 (CARM1) and PRMT6 are the major enzymes methylating HTT at specific arginine residues. Mass spectrometry identified ~24 arginine methylation/dimethylation sites on endogenous HTT from human and mouse brain. Alterations at R200/205 methylation sites render HTT less soluble, promote liquid-to-solid phase transition of HTT assemblies in vitro, and increase neuronal toxicity; overexpression of PRMT4/6 is beneficial for neuronal survival. | Mass spectrometry (data-dependent and targeted quantitative) of endogenous HTT; in vitro methylation assays with purified PRMTs; Co-IP of HTT with PRMTs; cell-based solubility assays; liquid-liquid phase separation assays in vitro; neuronal toxicity assays | Human molecular genetics | High | 34888656 |
| 2022 | DNAJB1 contains a HTT-binding motif (HBM) in the hinge region between its C-terminal domains I and II that specifically binds to the polyQ-adjacent proline-rich domain (PRD) of both soluble and aggregated HTT. Mutation of the conserved H244 in the HBM completely abrogates the ability of the trimeric chaperone complex (Hsc70/DNAJB1/Apg2) to suppress and disaggregate HTT fibrils, without affecting DNAJB1's activity on other substrates. Overexpression of wild-type but not H244A DNAJB1 prevents HTTExon1Q97 aggregation in HEK293 cells. | Mutational analysis of DNAJB1 HBM; in vitro fibril suppression and disaggregation assays; pulldown/binding assays between DNAJB1 variants and HTT PRD; overexpression in HEK293 cells; molecular dynamics simulations | Nature communications | High | 35948542 |
| 2022 | Branaplam, a splicing modulator, promotes inclusion of a novel 115-bp frameshift-inducing exon in the HTT transcript, leading to profound reduction of HTT RNA and protein levels. Branaplam lowers both total HTT and mutant HTT in patient-derived fibroblasts, iPSC, cortical progenitors, and neurons with an IC50 consistently below 10 nM, and ameliorates aberrant alternative splicing patterns in HD patient cells. | RT-PCR and RNA-seq identification of Branaplam-induced novel exon in HTT; HTT protein quantification by MSD assay in multiple patient-derived cell types; dose-response analysis | Nature communications | Medium | 36357392 |
| 2022 | HTT co-migrates retrogradely with RAB7 on signaling LAMP1-containing late endosomes during axonal injury in Drosophila neurons, as demonstrated by in vivo dual-color imaging. This positions HTT on a late endosomal compartment during the injury response. | In vivo dual-color live imaging of HTT and RAB7/LAMP1 in injured Drosophila axons; immunoprecipitation | Autophagy | Medium | 36048753 |
| 2016 | In Drosophila, huntingtin (Htt) participates in a cell death pathway triggered by transcriptional repression. The hnRNP-Htt axis regulates necrotic cell death: transcriptional repression by RNA polymerase II inhibition impairs splicing and expression of Htt (an ER-stabilizing molecule), and hnRNP overexpression rescues both RNA splicing and cell survival. Genetic suppression of Htt worsened, while expression of Htt ameliorated, the decreased survival phenotype. | Genetic screen of knockdown fly library; RNA-seq; fly genetics with Htt suppressors and expressers; α-amanitin (RNA Pol II inhibitor) treatment | Cell death & disease | Medium | 27124581 |
| 2024 | AAV5-delivered miHTT (an engineered microRNA targeting HTT exon 1) reduces levels of both full-length HTT mRNA and the aberrantly spliced HTT1a transcript, as well as the pathogenic exon 1 HTT protein, in the striatum and cortex of HD mouse models (zQ175 and humanized Hu128/21 mice). The exon 1 HTT protein, translated from HTT1a, is detectable in knock-in HD mice and is significantly reduced by miHTT treatment. | Intrastriatal AAV5-miHTT injection; QuantiGene multiplex assay for HTT and HTT1a mRNA; HTRF assay for mutant HTT and HTTexon1 protein; dose-response analysis in mouse brain regions | Brain | High | 39155061 |
Source papers
Stage 0 corpus · 130 papers · ranked by NIH iCite citations
| Year | Title | Journal | Citations | PMID |
|---|---|---|---|---|
| 2003 | Influence of life stress on depression: moderation by a polymorphism in the 5-HTT gene. | Science (New York, N.Y.) | 4885 | 12869766 |
| 1996 | Allelic variation of human serotonin transporter gene expression. | Journal of neurochemistry | 1731 | 8632190 |
| 2002 | Serotonin transporter genetic variation and the response of the human amygdala. | Science (New York, N.Y.) | 1573 | 12130784 |
| 2002 | Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. | Proceedings of the National Academy of Sciences of the United States of America | 1479 | 12477932 |
| 2005 | 5-HTTLPR polymorphism impacts human cingulate-amygdala interactions: a genetic susceptibility mechanism for depression. | Nature neuroscience | 1391 | 15880108 |
| 1999 | Characterization of single-nucleotide polymorphisms in coding regions of human genes. | Nature genetics | 1381 | 10391209 |
| 2009 | Interaction between the serotonin transporter gene (5-HTTLPR), stressful life events, and risk of depression: a meta-analysis. | JAMA | 1107 | 19531786 |
| 2011 | The serotonin transporter promoter variant (5-HTTLPR), stress, and depression meta-analysis revisited: evidence of genetic moderation. | Archives of general psychiatry | 942 | 21199959 |
| 2006 | Serotonin transporter promoter gain-of-function genotypes are linked to obsessive-compulsive disorder. | American journal of human genetics | 918 | 16642437 |
| 2010 | Genetic sensitivity to the environment: the case of the serotonin transporter gene and its implications for studying complex diseases and traits. | The American journal of psychiatry | 898 | 20231323 |
| 2008 | Systematic meta-analyses and field synopsis of genetic association studies in schizophrenia: the SzGene database. | Nature genetics | 817 | 18583979 |
| 1993 | Antidepressant- and cocaine-sensitive human serotonin transporter: molecular cloning, expression, and chromosomal localization. | Proceedings of the National Academy of Sciences of the United States of America | 737 | 7681602 |
| 2009 | Candidate gene studies of ADHD: a meta-analytic review. | Human genetics | 713 | 19506906 |
| 2011 | Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. | Briefings in bioinformatics | 656 | 21873635 |
| 2004 | Molecular defects in mucosal serotonin content and decreased serotonin reuptake transporter in ulcerative colitis and irritable bowel syndrome. | Gastroenterology | 613 | 15188158 |
| 2005 | A susceptibility gene for affective disorders and the response of the human amygdala. | Archives of general psychiatry | 570 | 15699291 |
| 2005 | The interaction of stressful life events and a serotonin transporter polymorphism in the prediction of episodes of major depression: a replication. | Archives of general psychiatry | 558 | 15867106 |
| 2000 | Dominant phenotypes produced by the HD mutation in STHdh(Q111) striatal cells. | Human molecular genetics | 540 | 11092756 |
| 2016 | X-ray structures and mechanism of the human serotonin transporter. | Nature | 530 | 27049939 |
| 2007 | Serotonin transporter (5-HTTLPR) genotype and amygdala activation: a meta-analysis. | Biological psychiatry | 527 | 17949693 |
| 2004 | Amygdala-prefrontal coupling depends on a genetic variation of the serotonin transporter. | Nature neuroscience | 509 | 15592465 |
| 1994 | Organization of the human serotonin transporter gene. | Journal of neural transmission. General section | 508 | 7865169 |
| 2004 | Social supports and serotonin transporter gene moderate depression in maltreated children. | Proceedings of the National Academy of Sciences of the United States of America | 503 | 15563601 |
| 1993 | Primary structure of the human platelet serotonin uptake site: identity with the brain serotonin transporter. | Journal of neurochemistry | 471 | 7684072 |
| 2004 | Gene-environment interaction analysis of serotonin system markers with adolescent depression. | Molecular psychiatry | 460 | 15241435 |
| 2006 | Brain-derived neurotrophic factor-5-HTTLPR gene interactions and environmental modifiers of depression in children. | Biological psychiatry | 453 | 16458264 |
| 2007 | The true story of the HD-Zip family. | Trends in plant science | 448 | 17698401 |
| 2006 | Simultaneous genotyping of four functional loci of human SLC6A4, with a reappraisal of 5-HTTLPR and rs25531. | Molecular psychiatry | 440 | 16402131 |
| 2004 | Meta-analysis of the association between a serotonin transporter promoter polymorphism (5-HTTLPR) and anxiety-related personality traits. | American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics | 440 | 15108187 |
| 2004 | The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). | Genome research | 438 | 15489334 |
| 1996 | Polymorphism in serotonin transporter gene associated with susceptibility to major depression. | Lancet (London, England) | 437 | 8602004 |
| 1995 | Widespread expression of Huntington's disease gene (IT15) protein product. | Neuron | 420 | 7748554 |
| 2005 | Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. | Genome research | 409 | 16344560 |
| 2019 | Allele-selective lowering of mutant HTT protein by HTT-LC3 linker compounds. | Nature | 383 | 31666698 |
| 2019 | No Support for Historical Candidate Gene or Candidate Gene-by-Interaction Hypotheses for Major Depression Across Multiple Large Samples. | The American journal of psychiatry | 378 | 30845820 |
| 2008 | Oxytocin receptor (OXTR) and serotonin transporter (5-HTT) genes associated with observed parenting. | Social cognitive and affective neuroscience | 337 | 19015103 |
| 1998 | Behavioural abnormalities and selective neuronal loss in HD transgenic mice expressing mutated full-length HD cDNA. | Nature genetics | 313 | 9771716 |
| 1993 | Huntington's disease gene (IT15) is widely expressed in human and rat tissues. | Neuron | 286 | 8240819 |
| 2010 | CAG-repeat length and the age of onset in Huntington disease (HD): a review and validation study of statistical approaches. | American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics | 284 | 19548255 |
| 1997 | Serotonin transporter (5-HTT) gene variants associated with autism? | Human molecular genetics | 199 | 9361027 |
| 2017 | The pathogenic exon 1 HTT protein is produced by incomplete splicing in Huntington's disease patients. | Scientific reports | 171 | 28465506 |
| 2019 | Allele-selective transcriptional repression of mutant HTT for the treatment of Huntington's disease. | Nature medicine | 155 | 31263285 |
| 2014 | HTT-lowering reverses Huntington's disease immune dysfunction caused by NFκB pathway dysregulation. | Brain : a journal of neurology | 153 | 24459107 |
| 2018 | Faulty neuronal determination and cell polarization are reverted by modulating HD early phenotypes. | Proceedings of the National Academy of Sciences of the United States of America | 134 | 29311338 |
| 2012 | Contribution of SAM and HD domains to retroviral restriction mediated by human SAMHD1. | Virology | 129 | 23158101 |
| 2006 | Meta-analysis supports association between serotonin transporter (5-HTT) and suicidal behavior. | Molecular psychiatry | 129 | 16969368 |
| 2009 | Structure and function of homodomain-leucine zipper (HD-Zip) proteins. | Plant signaling & behavior | 119 | 19649178 |
| 2016 | The HTT CAG-Expansion Mutation Determines Age at Death but Not Disease Duration in Huntington Disease. | American journal of human genetics | 112 | 26849111 |
| 2019 | FAN1 modifies Huntington's disease progression by stabilizing the expanded HTT CAG repeat. | Human molecular genetics | 106 | 30358836 |
| 2017 | Complete suppression of Htt fibrilization and disaggregation of Htt fibrils by a trimeric chaperone complex. | The EMBO journal | 98 | 29212816 |
| 2008 | HD-GYP domain proteins regulate biofilm formation and virulence in Pseudomonas aeruginosa. | Environmental microbiology | 92 | 19170727 |
| 2012 | Focused ultrasound for targeted delivery of siRNA and efficient knockdown of Htt expression. | Journal of controlled release : official journal of the Controlled Release Society | 91 | 22921802 |
| 2019 | Intrinsic mutant HTT-mediated defects in oligodendroglia cause myelination deficits and behavioral abnormalities in Huntington disease. | Proceedings of the National Academy of Sciences of the United States of America | 88 | 31015293 |
| 1995 | Expression of the Huntington's disease (IT15) protein product in HD patients. | Human molecular genetics | 88 | 7581375 |
| 2013 | An N-terminal nuclear export signal regulates trafficking and aggregation of Huntingtin (Htt) protein exon 1. | The Journal of biological chemistry | 73 | 23319588 |
| 2021 | Small molecule splicing modifiers with systemic HTT-lowering activity. | Nature communications | 70 | 34911927 |
| 2008 | "You're one of us now": young people describe their experiences of predictive genetic testing for Huntington disease (HD) and familial adenomatous polyposis (FAP). | American journal of medical genetics. Part C, Seminars in medical genetics | 69 | 18189288 |
| 2018 | N-terminal Huntingtin (Htt) phosphorylation is a molecular switch regulating Htt aggregation, helical conformation, internalization, and nuclear targeting. | The Journal of biological chemistry | 67 | 30185623 |
| 2009 | Normal and mutant HTT interact to affect clinical severity and progression in Huntington disease. | Neurology | 67 | 19776381 |
| 2010 | Emotional eating in adolescents: a gene (SLC6A4/5-HTT) - depressive feelings interaction analysis. | Journal of psychiatric research | 65 | 20416884 |
| 2005 | Protein conformations, interactions, and H/D exchange. | Methods in enzymology | 62 | 16401514 |
| 2013 | High-dose cytarabine (HD araC) in the treatment of leukemias: a review. | Current hematologic malignancy reports | 61 | 23666364 |
| 1998 | Serotonin transporter (5-HTT) gene and bipolar affective disorder. | American journal of medical genetics | 57 | 9514585 |
| 2010 | The serotonin transporter gene (5-HTT) variant and psychiatric disorders: review of current literature. | Neuro endocrinology letters | 54 | 20150867 |
| 2024 | Bin2cell reconstructs cells from high resolution Visium HD data. | Bioinformatics (Oxford, England) | 53 | 39250728 |
| 2021 | Modulating FKBP5/FKBP51 and autophagy lowers HTT (huntingtin) levels. | Autophagy | 51 | 34024231 |
| 2018 | Multiple clinical features of Huntington's disease correlate with mutant HTT gene CAG repeat lengths and neurodegeneration. | Journal of neurology | 47 | 29956026 |
| 2022 | An alternative splicing modulator decreases mutant HTT and improves the molecular fingerprint in Huntington's disease patient neurons. | Nature communications | 46 | 36357392 |
| 2021 | Gamete expression of TALE class HD genes activates the diploid sporophyte program in Marchantia polymorpha. | eLife | 46 | 34533136 |
| 2011 | Spatial and temporal requirements for huntingtin (Htt) in neuronal migration and survival during brain development. | The Journal of neuroscience : the official journal of the Society for Neuroscience | 46 | 21994396 |
| 2000 | HD-Zip proteins of families I and II from rice: interactions and functional properties. | Molecular & general genetics : MGG | 46 | 10732669 |
| 2018 | Multiple Links between HD-Zip Proteins and Hormone Networks. | International journal of molecular sciences | 44 | 30558150 |
| 2015 | Nuclear retention of full-length HTT RNA is mediated by splicing factors MBNL1 and U2AF65. | Scientific reports | 44 | 26218986 |
| 2006 | Stressful life events, 5-HTT genotype and risk of depression. | The British journal of psychiatry : the journal of mental science | 43 | 16507957 |
| 2016 | Haploinsufficiency of the ESCRT Component HD-PTP Predisposes to Cancer. | Cell reports | 41 | 27210750 |
| 2019 | Genome-wide identification and characterization of HD-ZIP genes in potato. | Gene | 38 | 30776460 |
| 2017 | Myricetin Reduces Toxic Level of CAG Repeats RNA in Huntington's Disease (HD) and Spino Cerebellar Ataxia (SCAs). | ACS chemical biology | 38 | 29172480 |
| 2014 | Prenatal stress-induced programming of genome-wide promoter DNA methylation in 5-HTT-deficient mice. | Translational psychiatry | 38 | 25335169 |
| 2015 | Epidemiology of Huntington disease: first post-HTT gene analysis of prevalence in Italy. | Clinical genetics | 37 | 25689972 |
| 2019 | Role for ATXN1, ATXN2, and HTT intermediate repeats in frontotemporal dementia and Alzheimer's disease. | Neurobiology of aging | 36 | 31810584 |
| 2018 | Targeting Gpr52 lowers mutant HTT levels and rescues Huntington's disease-associated phenotypes. | Brain : a journal of neurology | 34 | 29608652 |
| 2022 | Differential roles for DNAJ isoforms in HTT-polyQ and FUS aggregation modulation revealed by chaperone screens. | Nature communications | 32 | 35082301 |
| 2018 | Functional analysis of the HD-Zip transcription factor genes Oshox12 and Oshox14 in rice. | PloS one | 32 | 30028850 |
| 1998 | Functional analysis of the Huntington's disease (HD) gene promoter. | Human molecular genetics | 32 | 9536082 |
| 2020 | The HD-ZIP II Transcription Factors Regulate Plant Architecture through the Auxin Pathway. | International journal of molecular sciences | 31 | 32375344 |
| 2020 | Excess Rab4 rescues synaptic and behavioral dysfunction caused by defective HTT-Rab4 axonal transport in Huntington's disease. | Acta neuropathologica communications | 30 | 32611447 |
| 2024 | A gradient of the HD-Zip regulator Woolly regulates multicellular trichome morphogenesis in tomato. | The Plant cell | 29 | 38470570 |
| 2024 | HD-Zip proteins modify floral structures for self-pollination in tomato. | Science (New York, N.Y.) | 29 | 38574141 |
| 2022 | Alternative processing of human HTT mRNA with implications for Huntington's disease therapeutics. | Brain : a journal of neurology | 29 | 35793238 |
| 2011 | Association of 5-HTT gene polymorphisms with migraine: a systematic review and meta-analysis. | Journal of the neurological sciences | 29 | 21450309 |
| 2022 | Interaction of huntingtin with PRMTs and its subsequent arginine methylation affects HTT solubility, phase transition behavior and neuronal toxicity. | Human molecular genetics | 28 | 34888656 |
| 2022 | Nrf2 Pathway in Huntington's Disease (HD): What Is Its Role? | International journal of molecular sciences | 28 | 36499596 |
| 2014 | Emotion regulation moderates the risk associated with the 5-HTT gene and stress in children. | Emotion (Washington, D.C.) | 28 | 24866526 |
| 2007 | The long and the short of it: associations between 5-HTT genotypes and coping with stress. | Psychosomatic medicine | 28 | 17766691 |
| 1994 | A single allele from the polymorphic CCG rich sequence immediately 3' to the unstable CAG trinucleotide in the IT15 cDNA shows almost complete disequilibrium with Huntington's disease chromosomes in the Scottish population. | Human molecular genetics | 28 | 8162020 |
| 2022 | Identification of a HTT-specific binding motif in DNAJB1 essential for suppression and disaggregation of HTT. | Nature communications | 26 | 35948542 |
| 2019 | Rationally designed small molecules targeting toxic CAG repeat RNA that causes Huntington's disease (HD) and spinocerebellar ataxia (SCAs). | Biochimie | 25 | 31075282 |
| 2010 | Meta-analysis of the heterogeneity in association of DRD4 7-repeat allele and AD/HD: stronger association with AD/HD combined type. | American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics | 25 | 20468072 |
| 2019 | Second messengers and divergent HD-GYP phosphodiesterases regulate 3',3'-cGAMP signaling. | Molecular microbiology | 24 | 31665539 |
| 2019 | A Comprehensive Haplotype-Targeting Strategy for Allele-Specific HTT Suppression in Huntington Disease. | American journal of human genetics | 24 | 31708117 |
| 2023 | Interplay among ZF-HD and GRF transcription factors during Arabidopsis leaf development. | Plant physiology | 23 | 36652435 |
| 2020 | Huntington's Disease-An Outlook on the Interplay of the HTT Protein, Microtubules and Actin Cytoskeletal Components. | Cells | 23 | 32580314 |
| 2022 | Lily HD-Zip I Transcription Factor LlHB16 Promotes Thermotolerance by Activating LlHSFA2 and LlMBF1c. | Plant & cell physiology | 21 | 36130232 |
| 2022 | A novel and accurate full-length HTT mouse model for Huntington's disease. | eLife | 20 | 35023827 |
| 2017 | Role of ESCRT component HD-PTP/PTPN23 in cancer. | Biochemical Society transactions | 20 | 28620046 |
| 2017 | Sirtuins as Modifiers of Huntington's Disease (HD) Pathology. | Progress in molecular biology and translational science | 20 | 29413175 |
| 2020 | Amygdala 5-HTT Gene Network Moderates the Effects of Postnatal Adversity on Attention Problems: Anatomo-Functional Correlation and Epigenetic Changes. | Frontiers in neuroscience | 19 | 32256307 |
| 2016 | Mitochondrial fragmentation in neuronal degeneration: Toward an understanding of HD striatal susceptibility. | Biochemical and biophysical research communications | 19 | 27514446 |
| 2000 | Neurotrophic factors NGF and FGF-2 alter levels of huntingtin (IT15) in striatal neuronal cell cultures. | Cell transplantation | 19 | 11144959 |
| 2008 | Emotion-induced retrograde amnesia is determined by a 5-HTT genetic polymorphism. | The Journal of neuroscience : the official journal of the Society for Neuroscience | 18 | 18614671 |
| 2003 | Together at last: bHLH and LIM-HD regulators cooperate to specify motor neurons. | Neuron | 18 | 12797950 |
| 2024 | Somatic CAG repeat instability in intermediate alleles of the HTT gene and its potential association with a clinical phenotype. | European journal of human genetics : EJHG | 17 | 38433266 |
| 2023 | The START domain potentiates HD-ZIPIII transcriptional activity. | The Plant cell | 17 | 36861320 |
| 2014 | 5-HT2C receptor desensitization moderates anxiety in 5-HTT deficient mice: from behavioral to cellular evidence. | The international journal of neuropsychopharmacology | 17 | 25522398 |
| 2007 | tailup, a LIM-HD gene, and Iro-C cooperate in Drosophila dorsal mesothorax specification. | Development (Cambridge, England) | 17 | 17409113 |
| 2024 | Exon 1-targeting miRNA reduces the pathogenic exon 1 HTT protein in Huntington's disease models. | Brain : a journal of neurology | 16 | 39155061 |
| 2017 | REVIEW-ARTICLE Intermediate alleles of Huntington's disease HTT gene in different populations worldwide: a systematic review. | Genetics and molecular research : GMR | 16 | 28387881 |
| 2024 | HD-Zip I protein LlHOX6 antagonizes homeobox protein LlHB16 to attenuate basal thermotolerance in lily. | Plant physiology | 15 | 37930281 |
| 2019 | Extensive Expression Analysis of Htt Transcripts in Brain Regions from the zQ175 HD Mouse Model Using a QuantiGene Multiplex Assay. | Scientific reports | 15 | 31695145 |
| 2019 | Nucleation Inhibition of Huntingtin Protein (htt) by Polyproline PPII Helices: A Potential Interaction with the N-Terminal α-Helical Region of Htt. | Biochemistry | 15 | 31814404 |
| 2016 | The hnRNP-Htt axis regulates necrotic cell death induced by transcriptional repression through impaired RNA splicing. | Cell death & disease | 15 | 27124581 |
| 2014 | Stem cells for cell replacement therapy: a therapeutic strategy for HD? | Movement disorders : official journal of the Movement Disorder Society | 15 | 25216372 |
| 2011 | Viral-mediated overexpression of mutant huntingtin to model HD in various species. | Neurobiology of disease | 15 | 21889981 |
| 2011 | Experimental models of HD and reflection on therapeutic strategies. | International review of neurobiology | 15 | 21907096 |
| 2022 | HTT (huntingtin) and RAB7 co-migrate retrogradely on a signaling LAMP1-containing late endosome during axonal injury. | Autophagy | 14 | 36048753 |
| 2021 | Immune gene network of neurological diseases: Multiple sclerosis (MS), Alzheimer's disease (AD), Parkinson's disease (PD) and Huntington's disease (HD). | Heliyon | 13 | 34926857 |
| 2013 | [Biological functions of HD-Zip transcription factors]. | Yi chuan = Hereditas | 13 | 24459891 |
| 2011 | HD exchange and PLIMSTEX determine the affinities and order of binding of Ca2+ with troponin C. | Biochemistry | 13 | 21574565 |
| 2009 | Polymorphism of HD and UCHL-1 genes in Huntington's disease. | Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia | 13 | 19683447 |
| 2023 | HD and SCA1: Tales from two 30-year journeys since gene discovery. | Neuron | 12 | 37863037 |