Associated Papers
Therapeutic Role of Pharmacological Chaperones in Lysosomal Storage Disorders: A Review of the Evidence and Informed Approach to Reclassification.
Keyzor I et al.
Biomolecules, 2023
37627292 (PubMed )
Supplement: biomolecules-13-01227-s001.zip › biomolecules-2489010-supplementary.pdf
Glycomimetic-based pharmacological chaperones for lysosomal storage disorders: lessons from Gaucher, GM1-gangliosidosis and Fabry diseases.
Sánchez-Fernández EM et al.
Chemical Communications (cambridge, England), 2016
Identification of functional SNPs potentially served as a genetic risk factor for the pathogenesis of parakeratosis in the gene encoding human deoxyribonuclease I-like 2 (DNase 1L2) implicated in terminal differentiation of keratinocytes.
Ueki M et al.
Gene, 2015
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
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