Associated Papers
c.376A>G, (p.Ser126Gly) Alpha-Galactosidase A mutation induces ER stress, unfolded protein response and reduced enzyme trafficking to lysosome: Possible relevance in the pathogenesis of late-onset forms of Fabry Disease.
Riillo C et al.
Molecular Genetics and Metabolism, 2023
Sequencing of the GBA coactivator, Saposin C, in Parkinson disease.
Ouled Amar Bencheikh B et al.
Neurobiology of Aging, 2018
Mutant alpha-galactosidase A enzymes identified in Fabry disease patients with residual enzyme activity: biochemical characterization and restoration of normal intracellular processing by 1-deoxygalactonojirimycin.
Ishii S et al.
The Biochemical Journal, 2007
Select a paper to view details