{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,10]],"date-time":"2026-09-10T19:23:11Z","timestamp":1789068191511,"version":"build-2803163510"},"reference-count":13,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2020,12,7]],"date-time":"2020-12-07T00:00:00Z","timestamp":1607299200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Ann Clin Transl Neurol"],"published-print":{"date-parts":[[2021,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>CoenzymeQ10 is one of the main cellular antioxidants and an essential lipid involved in numerous cell reactions, such as energy production and apoptosis modulation. A large number of enzymes are involved in CoQ10 biosynthesis. Mutations in the genes encoding for these enzymes cause a CoQ10 deficiency, characterized by neurological and systemic symptoms. Here we describe two young sisters with sensorineural deafness followed by optic atrophy, due to a novel homozygous pathogenic variant in <jats:italic>PDSS1<\/jats:italic>. The visual system seems to be mainly involved when the first steps of CoQ10 synthesis are impaired (PDSS1, PDSS2, and COQ2 deficiency).<\/jats:p>","DOI":"10.1002\/acn3.51232","type":"journal-article","created":{"date-parts":[[2020,12,7]],"date-time":"2020-12-07T19:47:50Z","timestamp":1607370470000},"page":"247-251","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":17,"title":["Missense <i>PDSS1<\/i> mutations in CoenzymeQ10 synthesis cause optic atrophy and sensorineural deafness"],"prefix":"10.1002","volume":"8","author":[{"given":"Francesca","family":"Nardecchia","sequence":"first","affiliation":[{"name":"Division of Child Neurology and Infantile Psychiatry Department of Human Neurosciences Sapienza University of Rome Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Agnese","family":"De Giorgi","sequence":"additional","affiliation":[{"name":"Division of Child Neurology and Infantile Psychiatry 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