{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T18:43:37Z","timestamp":1792089817241,"version":"4.4.0"},"reference-count":62,"publisher":"Oxford University Press (OUP)","issue":"6","license":[{"start":{"date-parts":[[2023,12,11]],"date-time":"2023-12-11T00:00:00Z","timestamp":1702252800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["SFB TRR374"],"award-info":[{"award-number":["SFB TRR374"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,6,3]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Anoctamin 3 (ANO3) belongs to a family of transmembrane proteins that form phospholipid scramblases and ion channels. A large number of ANO3 variants were identified as the cause of craniocervical dystonia, but the underlying pathogenic mechanisms remain obscure. It was suggested that ANO3 variants may dysregulate intracellular Ca2+ signalling, as variants in other Ca2+ regulating proteins like hippocalcin were also identified as a cause of dystonia.<\/jats:p>\n               <jats:p>In this study, we conducted a comprehensive evaluation of the clinical, radiological and molecular characteristics of four individuals from four families who carried heterozygous variants in ANO3. The median age at follow-up was 6.6\u2005years (ranging from 3.8 to 8.7\u2005years). Three individuals presented with hypotonia and motor developmental delay. Two patients exhibited generalized progressive dystonia, while one patient presented with paroxysmal dystonia. Additionally, another patient exhibited early dyskinetic encephalopathy. One patient underwent bipallidal deep brain stimulation (DBS) and showed a mild but noteworthy response, while another patient is currently being considered for DBS treatment. Neuroimaging analysis of brain MRI studies did not reveal any specific abnormalities. The molecular spectrum included two novel ANO3 variants (V561L and S116L) and two previously reported ANO3 variants (A599D and S651N).<\/jats:p>\n               <jats:p>As anoctamins are suggested to affect intracellular Ca2+ signals, we compared Ca2+ signalling and activation of ion channels in cells expressing wild-type ANO3 and cells expressing anoctamin variants. Novel V561L and S116L variants were compared with previously reported A599D and S651N variants and with wild-type ANO3 expressed in fibroblasts isolated from patients or when overexpressed in HEK293 cells. We identified ANO3 as a Ca2+-activated phospholipid scramblase that also conducts ions. Impaired Ca2+ signalling and compromised activation of Ca2+-dependent K+ channels were detected in cells expressing ANO3 variants. In the brain striatal cells of affected patients, impaired activation of KCa3.1 channels due to compromised Ca2+ signals may lead to depolarized membrane voltage and neuronal hyperexcitability and may also lead to reduced cellular viability, as shown in the present study.<\/jats:p>\n               <jats:p>In conclusion, our study reveals the association between ANO3 variants and paroxysmal dystonia, representing the first reported link between these variants and this specific dystonic phenotype. We demonstrate that ANO3 functions as a Ca2+-activated phospholipid scramblase and ion channel; cells expressing ANO3 variants exhibit impaired Ca2+ signalling and compromised activation of Ca2+-dependent K+ channels. These findings provide a mechanism for the observed clinical manifestations and highlight the importance of ANO3 for neuronal excitability and cellular viability.<\/jats:p>","DOI":"10.1093\/brain\/awad412","type":"journal-article","created":{"date-parts":[[2023,12,8]],"date-time":"2023-12-08T22:46:48Z","timestamp":1702075608000},"page":"1982-1995","source":"Crossref","is-referenced-by-count":17,"title":["Broadening the clinical spectrum: molecular mechanisms and new phenotypes of <i>ANO3<\/i>-dystonia"],"prefix":"10.1093","volume":"147","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4318-2601","authenticated-orcid":false,"given":"Jiraporn","family":"Ousingsawat","sequence":"first","affiliation":[{"name":"Physiological Institute, University of Regensburg , D-93053 Regensburg , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Khaoula","family":"Talbi","sequence":"additional","affiliation":[{"name":"Physiological Institute, University of Regensburg , D-93053 Regensburg , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hilario","family":"G\u00f3mez-Mart\u00edn","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Unit, Department of Pediatrics, Hospital Universitario de Salamanca , 37007 Castilla y Leon , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7991-4432","authenticated-orcid":false,"given":"Anne","family":"Koy","sequence":"additional","affiliation":[{"name":"Centre for Rare Diseases, Faculty of Medicine and University Hospital Cologne, University of Cologne , 50931 K\u00f6ln , Germany"},{"name":"Department of Pediatrics, Faculty of Medicine and University, Hospital Cologne, University of Cologne , 50931 K\u00f6ln , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3306-9832","authenticated-orcid":false,"given":"Alberto","family":"Fern\u00e1ndez-Ja\u00e9n","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Hospital Universitario Quir\u00f3nsalud , 28223 Pozuelo de Alarc\u00f3n, Madrid , Spain"},{"name":"School of Medicine, Universidad Europea De Madrid , 28670 Villaviciosa de Od\u00f3n, Madrid , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hasan","family":"Tekg\u00fcl","sequence":"additional","affiliation":[{"name":"Division of Pediatric Neurology, Ege Children\u2019s Hospital, Ege University Medical School , 35100 Bornova, Izmir , Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9925-0859","authenticated-orcid":false,"given":"Esra","family":"Serdaro\u011flu","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Gazi University, Emniyet , 06560 Yenimahalle, Ankara , Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3974-5363","authenticated-orcid":false,"given":"Rainer","family":"Schreiber","sequence":"additional","affiliation":[{"name":"Physiological Institute, University of Regensburg , D-93053 Regensburg , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6320-2641","authenticated-orcid":false,"given":"Juan Dario","family":"Ortigoza-Escobar","sequence":"additional","affiliation":[{"name":"U-703 Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III , 08003 Barcelona , Spain"},{"name":"Movement Disorders Unit, Pediatric Neurology Department, Institut de Recerca Hospital Sant Joan de D\u00e9u , 08950 Barcelona , Spain"},{"name":"European Reference Network for Rare Neurological Diseases (ERN-RND) , 08950 Barcelona , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6222-4593","authenticated-orcid":false,"given":"Karl","family":"Kunzelmann","sequence":"additional","affiliation":[{"name":"Physiological Institute, University of Regensburg , D-93053 Regensburg , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2023,12,11]]},"reference":[{"key":"2024060314255086400_awad412-B1","doi-asserted-by":"crossref","first-page":"419","DOI":"10.1152\/physrev.00039.2011","article-title":"Structure and function of TMEM16 proteins (anoctamins)","volume":"94","author":"Pedemonte","year":"2014","journal-title":"Physiol Rev"},{"key":"2024060314255086400_awad412-B2","first-page":"ra73","article-title":"Activation of the Cl","volume":"6","author":"Jin","year":"2013","journal-title":"Sci 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