{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T21:11:02Z","timestamp":1791234662626,"version":"4.1.0"},"reference-count":65,"publisher":"SAGE Publications","issue":"1","license":[{"start":{"date-parts":[[2024,3,29]],"date-time":"2024-03-29T00:00:00Z","timestamp":1711670400000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JHD"],"published-print":{"date-parts":[[2024,3,29]]},"abstract":"<jats:p>Background: Mutations in the Huntingtin (HTT) gene cause Huntington\u2019s disease (HD), a neurodegenerative disorder. As a scaffold protein, HTT is involved in numerous cellular functions, but its normal and pathogenic functions during human forebrain development are poorly understood. Objective: To investigate the developmental component of HD, with a specific emphasis on understanding the functions of wild-type and mutant HTT alleles during forebrain neuron development in individuals carrying HD mutations. Methods: We used CRISPR\/Cas9 gene-editing technology to disrupt the ATG region of the HTT gene via non-homologous end joining to produce mono- or biallelic HTT knock-out human induced pluripotent stem cell (iPSC) clones. Results: We showed that the loss of wild-type, mutant, or both HTT isoforms does not affect the pluripotency of iPSCs or their transition into neural cells. However, we observed that HTT loss causes division impairments in forebrain neuro-epithelial cells and alters maturation of striatal projection neurons (SPNs) particularly in the acquisition of DARPP32 expression, a key functional marker of SPNs. Finally, young post-mitotic neurons derived from HTT-\/- human iPSCs display cellular dysfunctions observed in adult HD neurons. Conclusions: We described a novel collection of isogenic clones with mono- and biallelic HTT inactivation that complement existing HD-hiPSC isogenic series to explore HTT functions and test therapeutic strategies in particular HTT-lowering drugs. Characterizing neural and neuronal derivatives from human iPSCs of this collection, we show evidence that HTT loss or mutation has impacts on neuro-epithelial and striatal neurons maturation, and on basal DNA damage and BDNF axonal transport in post-mitotic neurons.<\/jats:p>","DOI":"10.3233\/jhd-231509","type":"journal-article","created":{"date-parts":[[2024,2,27]],"date-time":"2024-02-27T10:59:17Z","timestamp":1709031557000},"page":"41-53","source":"Crossref","is-referenced-by-count":8,"title":["Mono- and Biallelic Inactivation of Huntingtin Gene in Patient-Specific Induced Pluripotent Stem Cells Reveal HTT Roles in Striatal Development and Neuronal Functions"],"prefix":"10.1177","volume":"13","author":[{"given":"Morgane","family":"Louessard","sequence":"first","affiliation":[{"name":"Universit\u00e9 Paris-Saclay, CEA, Molecular Imaging Research Center, Fontenay-aux-Roses, France"},{"name":"Universit\u00e9 Paris-Saclay, CEA, CNRS, Laboratoire des Maladies Neurod\u00e9g\u00e9n\u00e9ratives: M\u00e9canismes, Th\u00e9rapies, Imagerie, Fontenay-aux-Roses, France"},{"name":"Universit\u00e9 Paris-Saclay, Inserm, Univ Evry, Institut des Cellules Souches pour le Traitement et l\u2019\u00e9tude des Maladies Monog\u00e9niques, Corbeil-Essonne, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michel","family":"Cailleret","sequence":"additional","affiliation":[{"name":"Universit\u00e9 Paris-Saclay, Inserm, Univ Evry, Institut des Cellules Souches pour le Traitement et l\u2019\u00e9tude des Maladies Monog\u00e9niques, Corbeil-Essonne, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margot","family":"Jarrige","sequence":"additional","affiliation":[{"name":"CECS\/AFM, Institut des Cellules Souches pour le Traitement et l\u2019\u00e9tude des Maladies Monog\u00e9niques, Corbeil-Essonne, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julie","family":"Bigarreau","sequence":"additional","affiliation":[{"name":"Universit\u00e9 Paris-Saclay, Inserm, Univ Evry, Institut des Cellules Souches pour le Traitement et l\u2019\u00e9tude des Maladies Monog\u00e9niques, Corbeil-Essonne, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sophie","family":"Lenoir","sequence":"additional","affiliation":[{"name":"Univ. Grenoble Alpes, Inserm, U1216, CHU Grenoble Alpes, Grenoble Institut Neuroscience, GIN, Grenoble, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"No\u00eblle","family":"Dufour","sequence":"additional","affiliation":[{"name":"Universit\u00e9 Paris-Saclay, CEA, Molecular Imaging Research Center, Fontenay-aux-Roses, France"},{"name":"Universit\u00e9 Paris-Saclay, CEA, CNRS, Laboratoire des Maladies Neurod\u00e9g\u00e9n\u00e9ratives: M\u00e9canismes, Th\u00e9rapies, Imagerie, Fontenay-aux-Roses, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Rey","sequence":"additional","affiliation":[{"name":"Lausanne University Hospital (CHUV) and University of Lausanne (UNIL), Department of Clinical Neurosciences (DNC), and Neuroscience Research Center (CRN), Laboratory of Cellular and Molecular Neurotherapies, Lausanne, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fr\u00e9d\u00e9ric","family":"Saudou","sequence":"additional","affiliation":[{"name":"Univ. 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