{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,23]],"date-time":"2026-08-23T18:09:03Z","timestamp":1787508543847,"version":"build-2736575974"},"reference-count":24,"publisher":"Oxford University Press (OUP)","issue":"7","license":[{"start":{"date-parts":[[2023,3,1]],"date-time":"2023-03-01T00:00:00Z","timestamp":1677628800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"name":"ERA PerMed project PerMiM"},{"DOI":"10.13039\/501100003196","name":"Italian Ministry of Health","doi-asserted-by":"publisher","award":["ERP-2019-23671048"],"award-info":[{"award-number":["ERP-2019-23671048"]}],"id":[{"id":"10.13039\/501100003196","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003196","name":"Italian Ministry of Health","doi-asserted-by":"publisher","award":["ERP-2019-23671045"],"award-info":[{"award-number":["ERP-2019-23671045"]}],"id":[{"id":"10.13039\/501100003196","id-type":"DOI","asserted-by":"publisher"}]},{"name":"German Federal Ministry of Education and Research","award":["01KU2016A"],"award-info":[{"award-number":["01KU2016A"]}]},{"name":"European Joint Programme on Rare Diseases"},{"name":"German Federal Ministry of Education and Research","award":["01GM1920A"],"award-info":[{"award-number":["01GM1920A"]}]},{"DOI":"10.13039\/501100004229","name":"Mariani Foundation","doi-asserted-by":"publisher","award":["CM23"],"award-info":[{"award-number":["CM23"]}],"id":[{"id":"10.13039\/501100004229","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Parkinson\u2019s Foundation Inc."},{"DOI":"10.13039\/501100001659","name":"German Research Foundation","doi-asserted-by":"publisher","award":["DFG 458949627"],"award-info":[{"award-number":["DFG 458949627"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001659","name":"German Research Foundation","doi-asserted-by":"publisher","award":["ZE 1213\/2-1"],"award-info":[{"award-number":["ZE 1213\/2-1"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001659","name":"German Research Foundation","doi-asserted-by":"publisher","award":["WI 1820\/14-1"],"award-info":[{"award-number":["WI 1820\/14-1"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,7,3]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>ATP5F1B is a subunit of the mitochondrial ATP synthase or complex V of the mitochondrial respiratory chain. Pathogenic variants in nuclear genes encoding assembly factors or structural subunits are associated with complex V deficiency, typically characterized by autosomal recessive inheritance and multisystem phenotypes. Movement disorders have been described in a subset of cases carrying autosomal dominant variants in structural subunits genes ATP5F1A and ATP5MC3.<\/jats:p>\n                  <jats:p>Here, we report the identification of two different ATP5F1B missense variants (c.1000A&amp;gt;C; p.Thr334Pro and c.1445T&amp;gt;C; p.Val482Ala) segregating with early-onset isolated dystonia in two families, both with autosomal dominant mode of inheritance and incomplete penetrance. Functional studies in mutant fibroblasts revealed no decrease of ATP5F1B protein amount but severe reduction of complex V activity and impaired mitochondrial membrane potential, suggesting a dominant-negative effect.<\/jats:p>\n                  <jats:p>In conclusion, our study describes a new candidate gene associated with isolated dystonia and confirms that heterozygous variants in genes encoding subunits of the mitochondrial ATP synthase may cause autosomal dominant isolated dystonia with incomplete penetrance, likely through a dominant-negative mechanism.<\/jats:p>","DOI":"10.1093\/brain\/awad068","type":"journal-article","created":{"date-parts":[[2023,2,28]],"date-time":"2023-02-28T17:46:56Z","timestamp":1677606416000},"page":"2730-2738","source":"Crossref","is-referenced-by-count":24,"title":["Variants in\n                    <i>ATP5F1B<\/i>\n                    are associated with dominantly inherited dystonia"],"prefix":"10.1093","volume":"146","author":[{"given":"Alessia","family":"Nasca","sequence":"first","affiliation":[{"name":"Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta , 20126 Milan , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Niccol\u00f2 E","family":"Mencacci","sequence":"additional","affiliation":[{"name":"Ken and Ruth Davee Department of Neurology and Simpson Querrey Center for Neurogenetics, Northwestern University, Feinberg School of Medicine , Chicago 60611, IL , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Federica","family":"Invernizzi","sequence":"additional","affiliation":[{"name":"Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta , 20126 Milan , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Zech","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, School of Medicine, Technical University of Munich , 81675 Munich , Germany"},{"name":"Institute of Neurogenomics, Helmholtz Zentrum M\u00fcnchen , 85764 Munich , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ignacio J","family":"Keller Sarmiento","sequence":"additional","affiliation":[{"name":"Ken and Ruth Davee Department of Neurology and Simpson Querrey Center for Neurogenetics, Northwestern University, Feinberg School of Medicine , Chicago 60611, IL , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Legati","sequence":"additional","affiliation":[{"name":"Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta , 20126 Milan , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chiara","family":"Frascarelli","sequence":"additional","affiliation":[{"name":"Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta , 20126 Milan , 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Querrey Center for Neurogenetics, Northwestern University, Feinberg School of Medicine , Chicago 60611, IL , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juliane","family":"Winkelmann","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, School of Medicine, Technical University of Munich , 81675 Munich , Germany"},{"name":"Institute of Neurogenomics, Helmholtz Zentrum M\u00fcnchen , 85764 Munich , Germany"},{"name":"Lehrstuhl f\u00fcr Neurogenetik, Technische Universit\u00e4t M\u00fcnchen , 81675 Munich , Germany"},{"name":"Munich Cluster for Systems Neurology, SyNergy , 81377 Munich , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miryam","family":"Carecchio","sequence":"additional","affiliation":[{"name":"Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta , 20126 Milan , Italy"},{"name":"Department Neuroscience, University of Padua , 35128 Padua , Italy"},{"name":"Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta , 20133 Milan , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nardo","family":"Nardocci","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta , 20133 Milan , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giovanna","family":"Zorzi","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta , 20133 Milan , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2379-6286","authenticated-orcid":false,"given":"Holger","family":"Prokisch","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, School of Medicine, Technical University of Munich , 81675 Munich , Germany"},{"name":"Institute of Neurogenomics, Helmholtz 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