{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"institution":[{"name":"bioRxiv"}],"indexed":{"date-parts":[[2025,12,16]],"date-time":"2025-12-16T18:29:39Z","timestamp":1765909779558,"version":"3.48.0"},"posted":{"date-parts":[[2025,12,13]]},"group-title":"Genetics","reference-count":102,"publisher":"openRxiv","license":[{"start":{"date-parts":[[2025,12,13]],"date-time":"2025-12-13T00:00:00Z","timestamp":1765584000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"name":"CDG-Care Foundation","award":["N\/A"],"award-info":[{"award-number":["N\/A"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"accepted":{"date-parts":[[2025,12,13]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                <jats:p>\n                  Glycosylphosphatidylinositol (GPI) anchors are a class of post-translational modifications observed on over 150 proteins. Pathogenic variants in the GPI biosynthesis enzyme,\n                  <jats:italic>PIGA<\/jats:italic>\n                  , in humans are associated with several brain anomalies such as hypomyelination, cerebellar hypoplasia, ataxic gait, and can lead to premature mortality. We previously genetically deleted\n                  <jats:italic>Piga<\/jats:italic>\n                  from the embryonic mouse brain which led to early postnatal death and significant structural brain malformations similar to those observed in humans with\n                  <jats:italic>PIGA<\/jats:italic>\n                  variants. The current treatment options for\n                  <jats:italic>PIGA<\/jats:italic>\n                  patients only manage symptoms and provides palliative care, demonstrating a need for new therapeutic options. We employed an AAV9-mediated\n                  <jats:italic>PIGA<\/jats:italic>\n                  gene-replacement (AAV9-\n                  <jats:italic>hPIGA<\/jats:italic>\n                  ) strategy to assess the efficacy of gene therapy in the brain. We show that a single intracerebroventricular treatment on the first day of life successfully rescued survival rates, structural brain anomalies, and neurological impairments. Additionally, we used mass spectrometry to identify and quantify GPI-anchored proteins in untreated and treated mutant mice. We found that AAV9-\n                  <jats:italic>hPIGA<\/jats:italic>\n                  treatment restored GPI-anchored protein levels in mutant animals. These investigations enhance our understanding of GPI-anchored protein production during brain development and contribute to the development of a more effective intervention for\n                  <jats:italic>PIGA<\/jats:italic>\n                  -related symptoms.\n                <\/jats:p>\n                <jats:sec>\n                  <jats:title>Graphical Abstract<\/jats:title>\n                  <jats:fig id=\"ufig1\" position=\"float\" fig-type=\"figure\" orientation=\"portrait\">\n                    <jats:graphic xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" xlink:href=\"693709v1_ufig1\" position=\"float\" orientation=\"portrait\"\/>\n                  <\/jats:fig>\n                <\/jats:sec>\n                <jats:sec>\n                  <jats:title>Key Points<\/jats:title>\n                  <jats:list list-type=\"bullet\">\n                    <jats:list-item>\n                      <jats:p>\n                        A single AAV9-\n                        <jats:italic>hPIGA<\/jats:italic>\n                        injection rescues\n                        <jats:italic>Piga<\/jats:italic>\n                        -related phenotypes including survival and structural brain defects\n                      <\/jats:p>\n                    <\/jats:list-item>\n                    <jats:list-item>\n                      <jats:p>\n                        AAV9-\n                        <jats:italic>hPIGA<\/jats:italic>\n                        treatment rescued long-term ataxia phenotypes in\n                        <jats:italic>Piga<\/jats:italic>\n                        mutants\n                      <\/jats:p>\n                    <\/jats:list-item>\n                    <jats:list-item>\n                      <jats:p>\n                        Neuronal GPI-anchored protein levels in\n                        <jats:italic>Piga<\/jats:italic>\n                        mutants are increased with AAV9-\n                        <jats:italic>hPIGA<\/jats:italic>\n                        gene replacement\n                      <\/jats:p>\n                    <\/jats:list-item>\n                  <\/jats:list>\n                <\/jats:sec>","DOI":"10.64898\/2025.12.11.693709","type":"posted-content","created":{"date-parts":[[2025,12,14]],"date-time":"2025-12-14T03:40:12Z","timestamp":1765683612000},"source":"Crossref","is-referenced-by-count":0,"title":["Gene replacement therapy for Piga GPI-anchor deficiency in the developing nervous system"],"prefix":"10.64898","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8932-325X","authenticated-orcid":false,"given":"Jennifer L.","family":"Watts","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shibi","family":"Likhite","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoshiko","family":"Murakami","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7166-7257","authenticated-orcid":false,"given":"Taroh","family":"Kinoshita","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kathrin","family":"Meyer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4512-6806","authenticated-orcid":false,"given":"Rolf W.","family":"Stottmann","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"54368","reference":[{"key":"2025121610251050000_2025.12.11.693709v1.1","doi-asserted-by":"crossref","unstructured":"Lopez S , Rodriguez-Gallardo S , Sabido-Bozo S , and Mu\u00f1iz M. 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