A Novel Homozygous VPS11 Variant May Cause Generalized Dystonia.
Ann Neurol
; 89(4): 834-839, 2021 04.
Article
en En
| MEDLINE
| ID: mdl-33452836
ABSTRACT
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;89834-839.
Texto completo:
1
Base de datos:
MEDLINE
Asunto principal:
Proteínas de Transporte Vesicular
/
Distonía
Tipo de estudio:
Etiology_studies
Límite:
Adult
/
Humans
Idioma:
En
Revista:
Ann Neurol
Año:
2021
Tipo del documento:
Article
País de afiliación:
Italia