{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,11]],"date-time":"2026-10-11T03:14:01Z","timestamp":1791688441440,"version":"4.3.4"},"reference-count":53,"publisher":"The Royal Society","issue":"7","license":[{"start":{"date-parts":[[2023,7,1]],"date-time":"2023-07-01T00:00:00Z","timestamp":1688169600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/royalsociety.org\/journals\/ethics-policies\/data-sharing-mining\/"}],"funder":[{"name":"PNNR","award":["CN00000041"],"award-info":[{"award-number":["CN00000041"]}]},{"DOI":"10.13039\/501100002426","name":"Fondazione Telethon","doi-asserted-by":"crossref","award":["CN00000041"],"award-info":[{"award-number":["CN00000041"]}],"id":[{"id":"10.13039\/501100002426","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100004710","name":"Fondazione Umberto Veronesi","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100004710","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["royalsocietypublishing.org"],"crossmark-restriction":true},"short-container-title":["Open Biol."],"published-print":{"date-parts":[[2023,7]]},"abstract":"<jats:p>\n                    Pathogenic variants in\n                    <jats:italic>SPART<\/jats:italic>\n                    cause Troyer syndrome, characterized by lower extremity spasticity and weakness, short stature and cognitive impairment, and a severe mitochondrial impairment. Herein, we report the identification of a role of Spartin in nuclear-encoded mitochondrial proteins.\n                    <jats:italic>SPART<\/jats:italic>\n                    biallelic missense variants were detected in a 5-year-old boy with short stature, developmental delay and muscle weakness with impaired walking distance. Patient-derived fibroblasts showed an altered mitochondrial network, decreased mitochondrial respiration, increased mitochondrial reactive oxygen species and altered Ca\n                    <jats:sup>2+<\/jats:sup>\n                    versus control cells. We investigated the mitochondrial import of nuclear-encoded proteins in these fibroblasts and in another cell model carrying a\n                    <jats:italic>SPART<\/jats:italic>\n                    loss-of-function mutation. In both cell models the mitochondrial import was impaired, leading to a significant decrease in different proteins, including two key enzymes involved in CoQ10 (CoQ) synthesis, COQ7 and COQ9, with a severe reduction in CoQ content, versus control cells. CoQ supplementation restored cellular ATP levels to the same extent shown by the re-expression of wild-type SPART, suggesting CoQ treatment as a promising therapeutic approach for patients carrying mutations in\n                    <jats:italic>SPART<\/jats:italic>\n                    .\n                  <\/jats:p>","DOI":"10.1098\/rsob.230040","type":"journal-article","created":{"date-parts":[[2023,7,11]],"date-time":"2023-07-11T19:05:33Z","timestamp":1689102333000},"update-policy":"https:\/\/doi.org\/10.1098\/crossmark-policy","source":"Crossref","is-referenced-by-count":9,"title":["Mutant SPART causes defects in mitochondrial protein import and bioenergetics reversed by Coenzyme Q"],"prefix":"10.1098","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3124-6946","authenticated-orcid":true,"given":"Chiara","family":"Diquigiovanni","sequence":"first","affiliation":[{"name":"Department of Medical and Surgical Sciences, University of Bologna, Bologna 40138, 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