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Titel:

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

Dokumenttyp:
Article; Journal Article; Review
Autor(en):
Monfrini, Edoardo; Zech, Michael; Steel, Dora; Kurian, Manju A; Winkelmann, Juliane; Di Fonzo, Alessio
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 autopha...     »
Zeitschriftentitel:
Brain
Jahr:
2021
Band / Volume:
144
Heft / Issue:
9
Seitenangaben Beitrag:
2610-2615
Volltext / DOI:
doi:10.1093/brain/awab161
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/33871597
Print-ISSN:
0006-8950
TUM Einrichtung:
Institut für Humangenetik; Lehrstuhl für Neurogenetik (Prof. Winkelmann)
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