HOPS-associated neurological disorders (HOPSANDs): Linking endolysosomal dysfunction to the pathogenesis of dystonia
Articolo
Data di Pubblicazione:
2021
Citazione:
HOPS-associated neurological disorders (HOPSANDs): Linking endolysosomal dysfunction to the pathogenesis of dystonia / E. Monfrini, M. Zech, D. Steel, M.A. Kurian, J. Winkelmann, A. Di Fonzo. - In: BRAIN. - ISSN 0006-8950. - 144:9(2021 Sep), pp. 2610-2615. [10.1093/brain/awab161]
Abstract:
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 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. 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.
Tipologia IRIS:
01 - Articolo su periodico
Keywords:
autophagy; dystonia genetics; HOPS; HOPSANDs; lysosome
Elenco autori:
E. Monfrini, M. Zech, D. Steel, M.A. Kurian, J. Winkelmann, A. Di Fonzo
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