A Novel Homozygous VPS11 Variant May Cause Generalized Dystonia.

doi:10.1002/ana.26021

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Article

A Novel Homozygous VPS11 Variant May Cause Generalized Dystonia.

Annals of neurology - 1 Apr 2021

Monfrini Edoardo, Cogiamanian Filippo, Salani Sabrina, Straniero Letizia, Fagiolari Gigliola, Garbellini Manuela, Carsana Emma, Borellini Linda, Biella Fabio, Moggio Maurizio, Bresolin Nereo, Corti Stefania, Duga Stefano, Comi Giacomo P, Aureli Massimo, Di Fonzo Alessio

Abstract excerpt

In this work, we describe the association of a novel homozygous VPS11 variant with adult-onset generalized dystonia, providing a detailed clinical report and biological evidence of disease mechanism. Vps11 is a subunit of the homotypic fusion and protein sorting (HOPS) complex, which promotes the fusion of late endosomes and autophagosomes with the lysosome. Functional studies on mutated fibroblasts showed marked...

Topics

Adult
Age of Onset
Amino Acid Sequence
Autophagy
Brain
DNA
Dystonia
Endosomes
Fibroblasts
Genetic Variation
Homozygote

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Humans

Lysosomes

Magnetic Resonance Imaging

Mutation

Pedigree

Phagosomes

Vesicular Transport Proteins

Source

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Identifiers

PMID: 33452836
DOI: 10.1002/ana.26021
PMCID: PMC8048445

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A Novel Homozygous VPS11 Variant May Cause Generalized Dystonia.PMID 33452836Read ↗

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