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Monfrini, E.* ; Zech, M. ; Steel, D.* ; Kurian, M.A.* ; Winkelmann, J. ; Di Fonzo, A.*

HOPS-associated neurological disorders (HOPSANDs): Linking endolysosomal dysfunction to the pathogenesis of dystonia.

Brain 144, 2610-2615 (2021)
Verlagsversion Postprint DOI
Open Access Green
The "homotypic fusion and protein sorting" (HOPS) complex is the structural bridge necessary for the fusion of late endosomes and autophagosomes with lysosomes. Recent publications linked mutations in genes encoding HOPS complex proteins with the etiopathogenesis 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. We propose to name HOPS-associated Neurological Disorders (HOPSANDs) this group of diseases, 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.
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Publikationstyp Artikel: Journalartikel
Dokumenttyp Review
Schlagwörter Hops ; Hopsands ; Autophagy ; Dystonia Genetics ; Lysosome; Neurodegeneration; Mutation; Leads
ISSN (print) / ISBN 0006-8950
e-ISSN 1460-2156
Quellenangaben Band: 144, Heft: 9, Seiten: 2610-2615 Artikelnummer: , Supplement: ,
Verlag Oxford University Press
Verlagsort Great Clarendon St, Oxford Ox2 6dp, England
Begutachtungsstatus Peer reviewed