{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,30]],"date-time":"2026-08-30T00:36:51Z","timestamp":1788050211326,"version":"build-2784847793"},"reference-count":61,"publisher":"The Company of Biologists","issue":"5","license":[{"start":{"date-parts":[[2026,6,1]],"date-time":"2026-06-01T00:00:00Z","timestamp":1780272000000},"content-version":"vor","delay-in-days":31,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"name":"CHDI Foundation"},{"DOI":"10.13039\/501100004240","name":"Akademie V\u011bd \u010cesk\u00e9 Republiky","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100004240","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100001823","name":"Ministerstvo \u0160kolstv\u00ed, Ml\u00e1de\u017ee a T\u011blov\u00fdchovy","doi-asserted-by":"crossref","award":["CZ.02.01.01\/00\/22_008\/0004562"],"award-info":[{"award-number":["CZ.02.01.01\/00\/22_008\/0004562"]}],"id":[{"id":"10.13039\/501100001823","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100020098","name":"Innovative Health Initiative","doi-asserted-by":"crossref","award":["101165643"],"award-info":[{"award-number":["101165643"]}],"id":[{"id":"10.13039\/100020098","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100005383","name":"\u00dastav \u017eivoci\u0161n\u00e9 fyziologie a genetiky AV CR","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100005383","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,5,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>Huntington's disease is caused by a CAG expansion in the HTT gene, leading to somatic repeat instability, alternative processing of HTT pre-mRNA, and mutant huntingtin protein production. To model these features, we generated a knock-in minipig (KI-85Q-HD) carrying a (CAG)82CAA(CAG)2 repeat in the endogenous HTT locus. To evaluate this, we quantified somatic expansion in various tissues using small pool- and bulk-PCR; detected HTT1a, an aberrantly spliced HTT transcript, using 3\u2032 rapid amplification of cDNA ends and quantitative PCR; and assessed mutant huntingtin protein isoforms using homogeneous time-resolved fluorescence assays. Moderate levels of tissue-specific and age-dependent somatic expansion were observed, highest in the caudate nucleus, kidney and spleen, and detectable in blood cells. We confirmed the presence of HTT1a transcripts terminating at a cryptic polyadenylation site in HTT intron 1, and detected soluble full-length mutant HTT and HTT1a proteins across brain regions and peripheral tissues, while aggregated HTT1a was only detected in the cortex. These results indicate that KI-85Q-HD minipigs exhibit molecular features of Huntington's disease at a pre-symptomatic stage and may serve as a platform for assessing therapeutic distribution and potency.<\/jats:p>","DOI":"10.1242\/dmm.052803","type":"journal-article","created":{"date-parts":[[2026,5,26]],"date-time":"2026-05-26T06:51:07Z","timestamp":1779778267000},"source":"Crossref","is-referenced-by-count":1,"title":["Molecular features of a Huntington's disease knock-in minipig"],"prefix":"10.1242","volume":"19","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7086-7799","authenticated-orcid":false,"given":"Anastasiia","family":"Kolesnikova","sequence":"first","affiliation":[{"name":"Institute of Animal Physiology and Genetics, Czech Academy of Sciences 1 Laboratory of Cell Regeneration and Plasticity , , Libechov 27721 ,","place":["Czech Republic"]},{"name":"Charles University in Prague 2 Department of Cell Biology, Faculty of Science , , Prague 12800 ,","place":["Czech Republic"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kirupa","family":"Sathasivam","sequence":"additional","affiliation":[{"name":"Queen Square Institute of Neurology, University College London 3 Huntington's Disease Centre and Department of Neurodegenerative Disease , , London WC1N 3BG ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Solaleh Khoramian","family":"Tusi","sequence":"additional","affiliation":[{"name":"Center for Genomic Medicine, Massachusetts General Hospital 4 Molecular Neurogenetics Unit , , Boston, MA 02114 ,","place":["USA"]},{"name":"Massachusetts Hospital and Harvard Medical School 5 Department of Neurology , , Boston, MA 02114 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9715-6447","authenticated-orcid":false,"given":"Christian","family":"Landles","sequence":"additional","affiliation":[{"name":"Queen Square Institute of Neurology, University College London 3 Huntington's Disease Centre and Department of Neurodegenerative Disease , , London WC1N 3BG ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8308-3179","authenticated-orcid":false,"given":"Georgina F.","family":"Osborne","sequence":"additional","affiliation":[{"name":"Queen Square Institute of Neurology, University College London 3 Huntington's Disease Centre and Department of Neurodegenerative Disease , , London WC1N 3BG ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marina","family":"Kovalenko","sequence":"additional","affiliation":[{"name":"Center for Genomic Medicine, Massachusetts General Hospital 4 Molecular Neurogenetics Unit , , Boston, MA 02114 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tammy","family":"Gillis","sequence":"additional","affiliation":[{"name":"Center for Genomic Medicine, Massachusetts General Hospital 4 Molecular Neurogenetics Unit , , Boston, MA 02114 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eva","family":"Kamenn\u00e1","sequence":"additional","affiliation":[{"name":"Institute of Animal Physiology and Genetics, Czech Academy of Sciences 1 Laboratory of Cell Regeneration and Plasticity , , Libechov 27721 ,","place":["Czech Republic"]},{"name":"Charles University in Prague 2 Department of Cell Biology, Faculty of Science , , Prague 12800 ,","place":["Czech Republic"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Sek\u00e1\u010d","sequence":"additional","affiliation":[{"name":"Institute of Animal Physiology and Genetics, Czech Academy of Sciences 1 Laboratory of Cell Regeneration and Plasticity , , Libechov 27721 ,","place":["Czech Republic"]},{"name":"Charles University in Prague 2 Department of Cell Biology, Faculty of Science , , Prague 12800 ,","place":["Czech Republic"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Duong The","family":"Nguyen","sequence":"additional","affiliation":[{"name":"Institute of Animal Physiology and Genetics, Czech Academy of Sciences 1 Laboratory of Cell Regeneration and Plasticity , , Libechov 27721 ,","place":["Czech Republic"]},{"name":"Charles University in Prague 2 Department of Cell Biology, Faculty of Science , , Prague 12800 ,","place":["Czech Republic"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ivona","family":"Valekov\u00e1","sequence":"additional","affiliation":[{"name":"Institute of Animal Physiology and Genetics, Czech Academy of Sciences 1 Laboratory of Cell Regeneration and Plasticity , , Libechov 27721 ,","place":["Czech Republic"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"\u0160tefan","family":"Juh\u00e1s","sequence":"additional","affiliation":[{"name":"Institute of Animal Physiology and Genetics, Czech Academy of Sciences 1 Laboratory of Cell Regeneration and Plasticity , , Libechov 27721 ,","place":["Czech Republic"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jana","family":"Juh\u00e1sov\u00e1","sequence":"additional","affiliation":[{"name":"Institute of Animal Physiology and Genetics, Czech Academy of Sciences 1 Laboratory of Cell Regeneration and Plasticity , , Libechov 27721 ,","place":["Czech Republic"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bo\u017eena","family":"Levinsk\u00e1","sequence":"additional","affiliation":[{"name":"Institute of Animal Physiology and Genetics, Czech Academy of Sciences 1 Laboratory of Cell Regeneration and Plasticity , , Libechov 27721 ,","place":["Czech Republic"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monika","family":"Baxa","sequence":"additional","affiliation":[{"name":"Institute of Animal Physiology and Genetics, Czech Academy of Sciences 1 Laboratory of Cell Regeneration and Plasticity , , Libechov 27721 ,","place":["Czech Republic"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan","family":"Motl\u00edk","sequence":"additional","affiliation":[{"name":"Institute of Animal Physiology and Genetics, Czech Academy of Sciences 1 Laboratory of Cell Regeneration and Plasticity , , Libechov 27721 ,","place":["Czech Republic"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ji\u0159\u00ed","family":"Kl\u00edma","sequence":"additional","affiliation":[{"name":"Institute of Animal Physiology and Genetics, Czech Academy of Sciences 1 Laboratory of Cell Regeneration and Plasticity , , Libechov 27721 ,","place":["Czech Republic"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Howland","sequence":"additional","affiliation":[{"name":"CHDI Management, Inc., the company that manages the scientific activities of CHDI Foundation Inc. 6 , Princeton, NJ 08540 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0004-8259-5796","authenticated-orcid":false,"given":"Vanessa C.","family":"Wheeler","sequence":"additional","affiliation":[{"name":"Center for Genomic Medicine, Massachusetts General Hospital 4 Molecular Neurogenetics Unit , , Boston, MA 02114 ,","place":["USA"]},{"name":"Massachusetts Hospital and Harvard Medical School 5 Department of Neurology , , Boston, MA 02114 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4041-6305","authenticated-orcid":false,"given":"Gillian P.","family":"Bates","sequence":"additional","affiliation":[{"name":"Queen Square Institute of Neurology, University College London 3 Huntington's Disease Centre and Department of Neurodegenerative Disease , , London WC1N 3BG ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6695-6345","authenticated-orcid":false,"given":"Zdenka","family":"Ellederova","sequence":"additional","affiliation":[{"name":"Institute of Animal Physiology and Genetics, Czech Academy of Sciences 1 Laboratory of Cell Regeneration and Plasticity , , Libechov 27721 ,","place":["Czech Republic"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"237","published-online":{"date-parts":[[2026,5,26]]},"reference":[{"key":"2026060108313045000_DMM052803C1","doi-asserted-by":"publisher","first-page":"1784","DOI":"10.1093\/brain\/awae063","article-title":"A CAG repeat threshold for therapeutics targeting somatic instability in Huntington's disease","volume":"147","author":"Aldous","year":"2024","journal-title":"Brain"},{"key":"2026060108313045000_DMM052803C2","doi-asserted-by":"publisher","first-page":"dmm041319","DOI":"10.1242\/dmm.041319","article-title":"Transgenic minipig model of Huntington's disease exhibiting gradually progressing neurodegeneration","volume":"13","author":"Ardan","year":"2019","journal-title":"Dis. Model. Mech."},{"key":"2026060108313045000_DMM052803C3","doi-asserted-by":"publisher","first-page":"dmm035949","DOI":"10.1242\/dmm.035949","article-title":"A transgenic minipig model of Huntington's disease shows early signs of behavioral and molecular pathologies","volume":"11","author":"Askeland","year":"2018","journal-title":"Dis. Model. Mech."},{"key":"2026060108313045000_DMM052803C4","doi-asserted-by":"publisher","first-page":"1497","DOI":"10.1093\/hmg\/ddab129","article-title":"Lack of association of somatic CAG repeat expansion with striatal neurodegeneration in HD knock-in animal models","volume":"30","author":"Bai","year":"2021","journal-title":"Hum. Mol. Genet."},{"key":"2026060108313045000_DMM052803C5","doi-asserted-by":"publisher","first-page":"15005","DOI":"10.1038\/nrdp.2015.5","article-title":"Huntington disease","volume":"1","author":"Bates","year":"2015","journal-title":"Nat. Rev. Dis. Primers"},{"key":"2026060108313045000_DMM052803C6","doi-asserted-by":"publisher","first-page":"dmm041293","DOI":"10.1242\/dmm.041293","article-title":"Longitudinal study revealing motor, cognitive and behavioral decline in a transgenic minipig model of Huntington's disease","volume":"13","author":"Baxa","year":"2019","journal-title":"Dis. Model. Mech."},{"key":"2026060108313045000_DMM052803C7","doi-asserted-by":"publisher","first-page":"2025.07.29.665998","DOI":"10.1101\/2025.07.29.665998","article-title":"Selective targeting of mutant huntingtin intron-1 improves rescue provided by antisense oligonucleotides","author":"Bragg","year":"2025","journal-title":"bioRxiv"},{"key":"2026060108313045000_DMM052803C8","doi-asserted-by":"publisher","first-page":"1302","DOI":"10.1002\/mds.28109","article-title":"A critical review of white matter changes in Huntington's disease","volume":"35","author":"Casella","year":"2020","journal-title":"Mov. Disord."},{"key":"2026060108313045000_DMM052803C9","doi-asserted-by":"publisher","first-page":"RP89782","DOI":"10.7554\/eLife.89782.2","article-title":"Base editing strategies to convert CAG to CAA diminish the disease-causing mutation in Huntington's disease","volume":"12","author":"Choi","year":"2024","journal-title":"eLife"},{"key":"2026060108313045000_DMM052803C10","doi-asserted-by":"publisher","first-page":"568","DOI":"10.1016\/j.ebiom.2019.09.020","article-title":"A genetic association study of glutamine-encoding DNA sequence structures, somatic CAG expansion, and DNA repair gene variants, with Huntington disease clinical outcomes","volume":"48","author":"Ciosi","year":"2019","journal-title":"EBioMedicine"},{"key":"2026060108313045000_DMM052803C11","doi-asserted-by":"publisher","first-page":"387","DOI":"10.1038\/ng0893-387","article-title":"Trinucleotide repeat length instability and age of onset in Huntington's disease","volume":"4","author":"Duyao","year":"1993","journal-title":"Nat. Genet."},{"key":"2026060108313045000_DMM052803C12","doi-asserted-by":"publisher","first-page":"2163","DOI":"10.1016\/j.ymthe.2018.06.021","article-title":"AAV5-miHTT gene therapy demonstrates broad distribution and strong human mutant huntingtin lowering in a Huntington's disease minipig model","volume":"26","author":"Evers","year":"2018","journal-title":"Mol. Ther."},{"key":"2026060108313045000_DMM052803C13","doi-asserted-by":"publisher","first-page":"561","DOI":"10.1126\/science.2931802","article-title":"Selective sparing of a class of striatal neurons in Huntington's disease","volume":"230","author":"Ferrante","year":"1985","journal-title":"Science"},{"key":"2026060108313045000_DMM052803C14","doi-asserted-by":"publisher","first-page":"4409","DOI":"10.1093\/brain\/awac241","article-title":"Alternative processing of human HTT mRNA with implications for Huntington's disease therapeutics","volume":"145","author":"Fienko","year":"2022","journal-title":"Brain"},{"key":"2026060108313045000_DMM052803C15","doi-asserted-by":"publisher","first-page":"1590","DOI":"10.1002\/jnr.24493","article-title":"Phenotype onset in Huntington's disease knock-in mice is correlated with the incomplete splicing of the mutant huntingtin gene","volume":"97","author":"Franich","year":"2019","journal-title":"J. Neurosci. Res."},{"key":"2026060108313045000_DMM052803C16","doi-asserted-by":"publisher","first-page":"887","DOI":"10.1016\/j.cell.2019.06.036","article-title":"CAG repeat not polyglutamine length determines timing of Huntington's disease onset","volume":"178","author":"Genetic Modifiers of Huntington's Disease (GeM-HD) Consortium","year":"2019","journal-title":"Cell"},{"key":"2026060108313045000_DMM052803C17","doi-asserted-by":"publisher","first-page":"3467","DOI":"10.1073\/pnas.0800048105","article-title":"DNA instability in postmitotic neurons","volume":"105","author":"Gonitel","year":"2008","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"2026060108313045000_DMM052803C18","doi-asserted-by":"publisher","first-page":"2522","DOI":"10.1523\/JNEUROSCI.19-07-02522.1999","article-title":"Nuclear and neuropil aggregates in Huntington's disease: relationship to neuropathology","volume":"19","author":"Gutekunst","year":"1999","journal-title":"J. Neurosci."},{"key":"2026060108313045000_DMM052803C19","doi-asserted-by":"publisher","first-page":"111","DOI":"10.1293\/tox.2016-0075","article-title":"The lymphoid system: a review of species differences","volume":"30","author":"Haley","year":"2017","journal-title":"J. Toxicol. Pathol."},{"key":"2026060108313045000_DMM052803C20","doi-asserted-by":"publisher","first-page":"33","DOI":"10.3233\/JHD-231516","article-title":"Somatic CAG repeat stability in a transgenic sheep model of Huntington's disease","volume":"13","author":"Handley","year":"2024","journal-title":"J. Huntingtons Dis."},{"key":"2026060108313045000_DMM052803C21","doi-asserted-by":"publisher","first-page":"623","DOI":"10.1016\/j.cell.2024.11.038","article-title":"Long somatic DNA-repeat expansion drives neurodegeneration in Huntington's disease","volume":"188","author":"Handsaker","year":"2025","journal-title":"Cell"},{"key":"2026060108313045000_DMM052803C22","doi-asserted-by":"publisher","first-page":"201","DOI":"10.3233\/JHD-200425","article-title":"Large animal models of Huntington's disease: what we have learned and where we need to go next","volume":"9","author":"Howland","year":"2020","journal-title":"J. Huntingtons Dis."},{"key":"2026060108313045000_DMM052803C23","doi-asserted-by":"publisher","first-page":"e64674","DOI":"10.7554\/eLife.64674","article-title":"Propensity for somatic expansion increases over the course of life in Huntington disease","volume":"10","author":"Kacher","year":"2021","journal-title":"eLife"},{"key":"2026060108313045000_DMM052803C24","doi-asserted-by":"publisher","first-page":"3359","DOI":"10.1093\/hmg\/ddg352","article-title":"Dramatic tissue-specific mutation length increases are an early molecular event in Huntington disease pathogenesis","volume":"12","author":"Kennedy","year":"2003","journal-title":"Hum. Mol. Genet."},{"key":"2026060108313045000_DMM052803C25","doi-asserted-by":"publisher","first-page":"20","DOI":"10.1186\/s42234-022-00102-1","article-title":"Sympathetic innervation of human and porcine spleens: implications for between species variation in function","volume":"8","author":"Kirkland","year":"2022","journal-title":"Bioelectron. Med."},{"key":"2026060108313045000_DMM052803C26","doi-asserted-by":"publisher","first-page":"8808","DOI":"10.1074\/jbc.M109.075028","article-title":"Proteolysis of mutant huntingtin produces an exon 1 fragment that accumulates as an aggregated protein in neuronal nuclei in Huntington disease","volume":"285","author":"Landles","year":"2010","journal-title":"J. Biol. Chem."},{"key":"2026060108313045000_DMM052803C27","doi-asserted-by":"publisher","first-page":"fcaa231","DOI":"10.1093\/braincomms\/fcaa231","article-title":"Development of novel bioassays to detect soluble and aggregated Huntingtin proteins on three technology platforms","volume":"3","author":"Landles","year":"2021","journal-title":"Brain Commun."},{"key":"2026060108313045000_DMM052803C28","doi-asserted-by":"publisher","first-page":"fcae410","DOI":"10.1093\/braincomms\/fcae410","article-title":"Mutant huntingtin protein decreases with CAG repeat expansion: implications for therapeutics and bioassays","volume":"6","author":"Landles","year":"2024","journal-title":"Brain Commun."},{"key":"2026060108313045000_DMM052803C29","doi-asserted-by":"publisher","first-page":"267","DOI":"10.1111\/j.1399-0004.2004.00241.x","article-title":"A new model for prediction of the age of onset and penetrance for Huntington's disease based on CAG length","volume":"65","author":"Langbehn","year":"2004","journal-title":"Clin. Genet."},{"key":"2026060108313045000_DMM052803C30","doi-asserted-by":"publisher","first-page":"29","DOI":"10.1186\/1752-0509-4-29","article-title":"A novel approach to investigate tissue-specific trinucleotide repeat instability","volume":"4","author":"Lee","year":"2010","journal-title":"BMC Syst. Biol."},{"key":"2026060108313045000_DMM052803C31","doi-asserted-by":"publisher","first-page":"e23647","DOI":"10.1371\/journal.pone.0023647","article-title":"Quantification of age-dependent somatic CAG repeat instability in Hdh CAG knock-in mice reveals different expansion dynamics in striatum and liver","volume":"6","author":"Lee","year":"2011","journal-title":"PLoS ONE"},{"key":"2026060108313045000_DMM052803C61","doi-asserted-by":"publisher","first-page":"985","DOI":"10.1016\/0896-6273(93)90127-d","article-title":"Huntington's disease gene (IT15) is widely expressed in human and rat tissues","volume":"11","author":"Li","year":"1993","journal-title":"Neuron"},{"key":"2026060108313045000_DMM052803C32","doi-asserted-by":"publisher","first-page":"4","DOI":"10.1186\/s13024-024-00794-w","article-title":"RNA-Targeting CRISPR\/CasRx system relieves disease symptoms in Huntington's disease models","volume":"20","author":"Lin","year":"2025","journal-title":"Mol. Neurodegener."},{"key":"2026060108313045000_DMM052803C33","doi-asserted-by":"publisher","first-page":"493","DOI":"10.1016\/S0092-8674(00)81369-0","article-title":"Exon 1 of the HD gene with an expanded CAG repeat is sufficient to cause a progressive neurological phenotype in transgenic mice","volume":"87","author":"Mangiarini","year":"1996","journal-title":"Cell"},{"key":"2026060108313045000_DMM052803C34","doi-asserted-by":"publisher","first-page":"e44457","DOI":"10.1371\/journal.pone.0044457","article-title":"Fragments of HdhQ150 mutant huntingtin form a soluble oligomer pool that declines with aggregate deposition upon aging","volume":"7","author":"Marcellin","year":"2012","journal-title":"PLoS ONE"},{"key":"2026060108313045000_DMM052803C35","doi-asserted-by":"publisher","first-page":"395","DOI":"10.3233\/JHD-130082","article-title":"Huntingtin: here, there, everywhere!","volume":"2","author":"Marques Sousa","year":"2013","journal-title":"J. Huntington's Dis."},{"key":"2026060108313045000_DMM052803C36","doi-asserted-by":"publisher","first-page":"1267","DOI":"10.1056\/NEJM198611133152006","article-title":"Huntington's disease. Pathogenesis and management","volume":"315","author":"Martin","year":"1986","journal-title":"N. Engl. J. Med."},{"key":"2026060108313045000_DMM052803C37","doi-asserted-by":"publisher","first-page":"10009","DOI":"10.1038\/s41467-025-64936-4","article-title":"Suppression of Huntington's disease somatic instability by transcriptional repression and direct CAG repeat binding","volume":"16","author":"Mathews","year":"2024","journal-title":"bioRxiv"},{"key":"2026060108313045000_DMM052803C38","doi-asserted-by":"publisher","first-page":"383","DOI":"10.1038\/s41588-024-01653-6","article-title":"Cell-type-specific CAG repeat expansions and toxicity of mutant Huntingtin in human striatum and cerebellum","volume":"56","author":"M\u00e4tlik","year":"2024","journal-title":"Nat. Genet."},{"key":"2026060108313045000_DMM052803C39","doi-asserted-by":"publisher","first-page":"2551","DOI":"10.1093\/hmg\/ddaa139","article-title":"Patterns of CAG repeat instability in the central nervous system and periphery in Huntington's disease and in spinocerebellar ataxia type 1","volume":"29","author":"Mouro Pinto","year":"2020","journal-title":"Hum. Mol. Genet."},{"key":"2026060108313045000_DMM052803C40","doi-asserted-by":"publisher","first-page":"314","DOI":"10.1038\/s41588-024-02054-5","article-title":"In vivo CRISPR\u2013Cas9 genome editing in mice identifies genetic modifiers of somatic CAG repeat instability in Huntington's disease","volume":"57","author":"Mouro Pinto","year":"2025","journal-title":"Nat. Genet."},{"key":"2026060108313045000_DMM052803C41","doi-asserted-by":"publisher","first-page":"1307","DOI":"10.1038\/s41598-017-01510-z","article-title":"The pathogenic exon 1 HTT protein is produced by incomplete splicing in Huntington's disease patients","volume":"7","author":"Neueder","year":"2017","journal-title":"Sci. Rep."},{"key":"2026060108313045000_DMM052803C42","doi-asserted-by":"publisher","DOI":"10.1101\/2025.06.10.658804","article-title":"Lowering the HTT1a transcript as an effective therapy for Huntington's disease","author":"Papadopoulou","year":"2025","journal-title":"bioRxiv"},{"key":"2026060108313045000_DMM052803C43","doi-asserted-by":"publisher","first-page":"924","DOI":"10.1016\/j.neuron.2023.12.009","article-title":"Selective vulnerability of layer 5a corticostriatal neurons in Huntington's disease","volume":"112","author":"Pressl","year":"2024","journal-title":"Neuron"},{"key":"2026060108313045000_DMM052803C44","doi-asserted-by":"publisher","first-page":"2995","DOI":"10.1016\/j.neuroimage.2009.10.015","article-title":"Altered white matter microstructure in the corpus callosum in Huntington's disease: Implications for cortical \u201cdisconnection\u201d","volume":"49","author":"Rosas","year":"2010","journal-title":"Neuroimage"},{"key":"2026060108313045000_DMM052803C45","doi-asserted-by":"publisher","DOI":"10.1101\/2024.12.31.630891","article-title":"Mutant Huntingtin exon1 protein detected in mouse brain with neoepitope antibody: effects of CAG repeat expansion, MSH3 silencing, and aggregation","author":"Sapp","year":"2025","journal-title":"bioRxiv"},{"key":"2026060108313045000_DMM052803C46","doi-asserted-by":"publisher","first-page":"2366","DOI":"10.1073\/pnas.1221891110","article-title":"Aberrant splicing of HTT generates the pathogenic exon 1 protein in Huntington disease","volume":"110","author":"Sathasivam","year":"2013","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"2026060108313045000_DMM052803C47","doi-asserted-by":"publisher","first-page":"1133","DOI":"10.1093\/hmg\/ddm054","article-title":"Triplet repeat mutation length gains correlate with cell-type specific vulnerability in Huntington disease brain","volume":"16","author":"Shelbourne","year":"2007","journal-title":"Hum. Mol. Genet."},{"key":"2026060108313045000_DMM052803C48","doi-asserted-by":"publisher","first-page":"110","DOI":"10.1177\/0192623320975373","article-title":"International harmonization of nomenclature and diagnostic criteria (INHAND): nonproliferative and proliferative lesions of the minipig","volume":"49","author":"Skydsgaard","year":"2021","journal-title":"Toxicol. Pathol."},{"key":"2026060108313045000_DMM052803C49","doi-asserted-by":"publisher","first-page":"fcad010","DOI":"10.1093\/braincomms\/fcad010","article-title":"Early detection of exon 1 huntingtin aggregation in zQ175 brains by molecular and histological approaches","volume":"5","author":"Smith","year":"2023","journal-title":"Brain Commun."},{"key":"2026060108313045000_DMM052803C50","doi-asserted-by":"publisher","first-page":"3039","DOI":"10.1093\/hmg\/ddp242","article-title":"Somatic expansion of the Huntington's disease CAG repeat in the brain is associated with an earlier age of disease onset","volume":"18","author":"Swami","year":"2009","journal-title":"Hum. Mol. Genet."},{"key":"2026060108313045000_DMM052803C51","doi-asserted-by":"publisher","first-page":"971","DOI":"10.1016\/0092-8674(93)90585-E","article-title":"A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes","volume":"72","author":"The Huntington's Disease Collaborative Research Group","year":"1993","journal-title":"Cell"},{"key":"2026060108313045000_DMM052803C52","doi-asserted-by":"publisher","first-page":"106291","DOI":"10.1016\/j.nbd.2023.106291","article-title":"Aberrant splicing of mutant huntingtin in Huntington's disease knock-in pigs","volume":"187","author":"Tong","year":"2023","journal-title":"Neurobiol. Dis."},{"key":"2026060108313045000_DMM052803C53","doi-asserted-by":"publisher","first-page":"eabb8920","DOI":"10.1126\/scitranslmed.abb8920","article-title":"Widespread and sustained target engagement in Huntington's disease minipigs upon intrastriatal microRNA-based gene therapy","volume":"13","author":"Vall\u00e8s","year":"2021","journal-title":"Sci. Transl. Med."},{"key":"2026060108313045000_DMM052803C54","doi-asserted-by":"publisher","first-page":"161","DOI":"10.1196\/annals.1334.015","article-title":"The miniature pig as an animal model in biomedical research","volume":"1049","author":"Vodi\u010dka","year":"2005","journal-title":"Ann. N. Y. Acad. Sci."},{"key":"2026060108313045000_DMM052803C55","doi-asserted-by":"publisher","first-page":"559","DOI":"10.1097\/00005072-198511000-00003","article-title":"Neuropathological classification of Huntington's disease","volume":"44","author":"Vonsattel","year":"1985","journal-title":"J. Neuropathol. Exp. Neurol."},{"key":"2026060108313045000_DMM052803C56","doi-asserted-by":"publisher","first-page":"115","DOI":"10.1093\/hmg\/8.1.115","article-title":"Length-dependent gametic CAG repeat instability in the Huntington's disease knock-in mouse","volume":"8","author":"Wheeler","year":"1999","journal-title":"Hum. Mol. Genet."},{"key":"2026060108313045000_DMM052803C57","doi-asserted-by":"publisher","first-page":"503","DOI":"10.1093\/hmg\/9.4.503","article-title":"Long glutamine tracts cause nuclear localization of a novel form of huntingtin in medium spiny striatal neurons in HdhQ92 and HdhQ111 knock-in mice","volume":"9","author":"Wheeler","year":"2000","journal-title":"Hum. Mol. Genet."},{"key":"2026060108313045000_DMM052803C58","doi-asserted-by":"publisher","first-page":"989","DOI":"10.1016\/j.cell.2018.03.005","article-title":"A Huntingtin knockin pig model recapitulates features of selective neurodegeneration in Huntington's disease","volume":"173","author":"Yan","year":"2018","journal-title":"Cell"},{"key":"2026060108313045000_DMM052803C59","doi-asserted-by":"publisher","first-page":"629","DOI":"10.1038\/s41551-023-01007-3","article-title":"Cas9-mediated replacement of expanded CAG repeats in a pig model of Huntington's disease","volume":"7","author":"Yan","year":"2023","journal-title":"Nat. Biomed. Eng."},{"key":"2026060108313045000_DMM052803C60","doi-asserted-by":"publisher","first-page":"2582","DOI":"10.1038\/s41467-020-16318-1","article-title":"Truncation of mutant huntingtin in knock-in mice demonstrates exon1 huntingtin is a key pathogenic form","volume":"11","author":"Yang","year":"2020","journal-title":"Nat. Commun."}],"container-title":["Disease Models &amp; Mechanisms"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.biologists.com\/dmm\/article-pdf\/doi\/10.1242\/dmm.052803\/3700830\/dmm052803.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/journals.biologists.com\/dmm\/article-pdf\/doi\/10.1242\/dmm.052803\/3700830\/dmm052803.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,6,1]],"date-time":"2026-06-01T12:31:40Z","timestamp":1780317100000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.biologists.com\/dmm\/article\/19\/5\/dmm052803\/371800\/Molecular-features-of-a-Huntington-s-disease-knock"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,5,1]]},"references-count":61,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2026,5,1]]}},"URL":"https:\/\/doi.org\/10.1242\/dmm.052803","relation":{},"ISSN":["1754-8403","1754-8411"],"issn-type":[{"value":"1754-8403","type":"print"},{"value":"1754-8411","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,5,1]]},"article-number":"dmm052803"}}