{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T04:22:02Z","timestamp":1792642922957,"version":"4.5.0"},"reference-count":20,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2019,7,19]],"date-time":"2019-07-19T00:00:00Z","timestamp":1563494400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004740","name":"Fondazione del Monte di Bologna e Ravenna","doi-asserted-by":"publisher","award":["FDM\/6360"],"award-info":[{"award-number":["FDM\/6360"]}],"id":[{"id":"10.13039\/501100004740","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Ann Clin Transl Neurol"],"published-print":{"date-parts":[[2019,8]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    In 2015\u20132016, we and others reported\n                    <jats:italic>ALDH18A1<\/jats:italic>\n                    mutations causing dominant (SPG9A) or recessive (SPG9B) spastic paraplegia. In vitro production of the\n                    <jats:italic>ALDH18A1<\/jats:italic>\n                    product, \u0394\n                    <jats:sup>1<\/jats:sup>\n                    \u2010pyrroline\u20105\u2010carboxylate synthetase (P5CS), appeared necessary for cracking SPG9 disease\u2010causing mechanisms. We now describe a baculovirus\u2013insect cell system that yields mgs of pure human P5CS and that has proven highly valuable with two novel P5CS mutations reported here in new SPG9B patients. We conclude that both mutations are disease\u2010causing, that SPG9B associates with partial P5CS deficiency and that it is clinically more severe than SPG9A, as reflected in onset age, disability, cognitive status, growth, and dysmorphic traits.\n                  <\/jats:p>","DOI":"10.1002\/acn3.50821","type":"journal-article","created":{"date-parts":[[2019,7,19]],"date-time":"2019-07-19T08:38:35Z","timestamp":1563525515000},"page":"1533-1540","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":18,"title":["P5CS expression study in a new family with\n                    <i>ALDH18A1<\/i>\n                    \u2010associated hereditary spastic paraplegia SPG9"],"prefix":"10.1002","volume":"6","author":[{"given":"Pamela","family":"Magini","sequence":"first","affiliation":[{"name":"Medical Genetics Unit S. Orsola\u2010Malpighi Hospital Bologna Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8813-3515","authenticated-orcid":false,"given":"Clara","family":"Marco\u2010Marin","sequence":"additional","affiliation":[{"name":"Instituto de Biomedicina de Valencia of the CSIC Valencia Spain"},{"name":"Centro para Investigaci\u00f3n Biom\u00e9dica en Red sobre Enfermedades Raras CIBERER\u2010ISCIII Valencia Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juan M.","family":"Escamilla\u2010Honrubia","sequence":"additional","affiliation":[{"name":"Instituto de Biomedicina de Valencia of the CSIC Valencia Spain"},{"name":"Centro para Investigaci\u00f3n Biom\u00e9dica en Red sobre Enfermedades Raras CIBERER\u2010ISCIII Valencia Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diego","family":"Martinelli","sequence":"additional","affiliation":[{"name":"Division of Metabolism Bambino Ges\u00f9 Children\u2019s Research Hospital Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlo","family":"Dionisi-Vici","sequence":"additional","affiliation":[{"name":"Division of Metabolism Bambino Ges\u00f9 Children\u2019s Research Hospital Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Faravelli","sequence":"additional","affiliation":[{"name":"Clinical Genetics, NE Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust London United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Forzano","sequence":"additional","affiliation":[{"name":"Clinical Genetics Department, SE Thames Regional Genetics Service Guy's &amp; St Thomas' NHS Foundation Trust London United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marco","family":"Seri","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit S. 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