La maladie de Parkinson en France (serveur d'exploration)

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Ambroxol effects in glucocerebrosidase and α-synuclein transgenic mice.

Identifieur interne : 000060 ( Main/Exploration ); précédent : 000059; suivant : 000061

Ambroxol effects in glucocerebrosidase and α-synuclein transgenic mice.

Auteurs : Anna Migdalska-Richards [Royaume-Uni] ; Liam Daly [Royaume-Uni] ; Erwan Bezard [France] ; Anthony H V. Schapira [Royaume-Uni]

Source :

RBID : Hal:hal-01456949

Abstract

Gaucher disease is caused by mutations in the glucocerebrosidase 1 gene that result in deficiency of the lysosomal enzyme glucocerebrosidase. Both homozygous and heterozygous glucocerebrosidase 1 mutations confer an increased risk for developing Parkinson disease. Current estimates indicate that 10 to 25% of Parkinson patients carry glucocerebrosidase 1 mutations. Ambroxol is a small molecule chaperone that has been shown to increase glucocerebrosidase activity in vitro. This study investigated the effect of ambroxol treatment on glucocerebrosidase activity and on α-synuclein and phosphorylated α-synuclein protein levels in mice.

Url:
DOI: 10.1002/ana.24790.


Affiliations:


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<div type="abstract" xml:lang="0">Gaucher disease is caused by mutations in the glucocerebrosidase 1 gene that result in deficiency of the lysosomal enzyme glucocerebrosidase. Both homozygous and heterozygous glucocerebrosidase 1 mutations confer an increased risk for developing Parkinson disease. Current estimates indicate that 10 to 25% of Parkinson patients carry glucocerebrosidase 1 mutations. Ambroxol is a small molecule chaperone that has been shown to increase glucocerebrosidase activity in vitro. This study investigated the effect of ambroxol treatment on glucocerebrosidase activity and on α-synuclein and phosphorylated α-synuclein protein levels in mice.</div>
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