{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,24]],"date-time":"2026-10-24T01:14:21Z","timestamp":1792804461699,"version":"4.5.0"},"reference-count":30,"publisher":"Oxford University Press (OUP)","issue":"9","license":[{"start":{"date-parts":[[2021,4,19]],"date-time":"2021-04-19T00:00:00Z","timestamp":1618790400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2021,10,22]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>The homotypic fusion and protein sorting (HOPS) complex is the structural bridge necessary for the fusion of late endosomes and autophagosomes with lysosomes.<\/jats:p>\n               <jats:p>Recent publications linked mutations in genes encoding HOPS complex proteins with the aetiopathogenesis of inherited dystonias (i.e. VPS16, VPS41, and VPS11). Functional and microstructural studies conducted on patient-derived fibroblasts carrying mutations of HOPS complex subunits displayed clear abnormalities of the lysosomal and autophagic compartments.<\/jats:p>\n               <jats:p>We propose to name this group of diseases HOPS-associated neurological disorders (HOPSANDs), which are mainly characterized by dystonic presentations. The delineation of HOPSANDs further confirms the connection of lysosomal and autophagic dysfunction with the pathogenesis of dystonia, prompting researchers to find innovative therapies targeting this pathway.<\/jats:p>","DOI":"10.1093\/brain\/awab161","type":"journal-article","created":{"date-parts":[[2021,4,16]],"date-time":"2021-04-16T20:44:41Z","timestamp":1618605881000},"page":"2610-2615","source":"Crossref","is-referenced-by-count":42,"title":["HOPS-associated neurological disorders (HOPSANDs): linking endolysosomal dysfunction to the pathogenesis of dystonia"],"prefix":"10.1093","volume":"144","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4720-9234","authenticated-orcid":false,"given":"Edoardo","family":"Monfrini","sequence":"first","affiliation":[{"name":"Dino Ferrari Center, Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan, Milan 20122, Italy"},{"name":"Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neurology Unit, Milan 20122, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Zech","sequence":"additional","affiliation":[{"name":"Institute of Neurogenomics, Helmholtz Zentrum M\u00fcnchen, Munich 85764, Germany"},{"name":"Institute of Human Genetics, Technical University of Munich, Munich 81675, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dora","family":"Steel","sequence":"additional","affiliation":[{"name":"Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK"},{"name":"Department of Neurology, Great Ormond Street Hospital, London WC1N 3JH, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manju A","family":"Kurian","sequence":"additional","affiliation":[{"name":"Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK"},{"name":"Department of Neurology, Great Ormond Street Hospital, London WC1N 3JH, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juliane","family":"Winkelmann","sequence":"additional","affiliation":[{"name":"Institute of Neurogenomics, Helmholtz Zentrum M\u00fcnchen, Munich 85764, Germany"},{"name":"Institute of Human Genetics, Technical University of Munich, Munich 81675, Germany"},{"name":"Lehrstuhl f\u00fcr Neurogenetik, Technische Universit\u00e4t M\u00fcnchen, Munich 81675, Germany"},{"name":"Munich Cluster for Systems Neurology, SyNergy, Munich, 81377, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6478-026X","authenticated-orcid":false,"given":"Alessio","family":"Di Fonzo","sequence":"additional","affiliation":[{"name":"Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neurology Unit, Milan 20122, 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