Saltar al contenido
Merck

A Novel Homozygous VPS11 Variant May Cause Generalized Dystonia.

Annals of neurology (2021-01-17)
Edoardo Monfrini, Filippo Cogiamanian, Sabrina Salani, Letizia Straniero, Gigliola Fagiolari, Manuela Garbellini, Emma Carsana, Linda Borellini, Fabio Biella, Maurizio Moggio, Nereo Bresolin, Stefania Corti, Stefano Duga, Giacomo P Comi, Massimo Aureli, Alessio Di Fonzo
RESUMEN

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 lysosomal and autophagic abnormalities, which improved after overexpression of the wild type Vps11 protein. In conclusion, a deleterious VPS11 variant, damaging the autophagic and lysosomal pathways, is the probable genetic cause of a novel form of generalized dystonia. ANN NEUROL 2021;89:834-839.

MATERIALES
Referencia del producto
Marca
Descripción del producto

Sigma-Aldrich
Anti--actina antibody produced in rabbit, affinity isolated antibody, buffered aqueous solution
Sigma-Aldrich
Anti-SQSTM1 Antibody, clone 20F1.1, clone 20F1.1, from mouse
Sigma-Aldrich
Anti-VPS11 antibody produced in rabbit, Prestige Antibodies® Powered by Atlas Antibodies, affinity isolated antibody, buffered aqueous glycerol solution