Pharmacochaperoning in a Drosophila model system rescues human dopamine transporter variants associated with infantile/juvenile parkinsonism

Author:

Asjad H.M. Mazhar,Kasture Ameya,El-Kasaby Ali,Sackel Michael,Hummel Thomas,Freissmuth Michael,Sucic Sonja

Funder

Austrian Science Fund

Publisher

Elsevier BV

Subject

Cell Biology,Molecular Biology,Biochemistry

Reference55 articles.

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3. Mutations in the GlyT2 gene (SLC6A5) are a second major cause of startle disease;Carta;J. Biol. Chem,2012

4. High prevalence of SLC6A8 deficiency in X-linked mental retardation;Rosenberg;Am. J. Hum. Genet,2004

5. Homozygous loss-of-function mutations in the gene encoding the dopamine transporter are associated with infantile parkinsonism-dystonia;Kurian;J. Clin. Invest,2009

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