Papers matching “pharmacological chaperones” 19
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C -Branched Iminosugars as Selective Pharmacological Chaperones of Lysosomal α-Glucosidase for the Treatment of Pompe Disease2025 Journal of Medicinal Chemistry article Medicine Lysosomal Storage Disorders Research Open access
Anaïs Vieira Da Cruz, Valentine Perraudin, Nadia Minopoli, Roberta Iacono, V. Roig-Zamboni, Andrea Bossio, +13 more
2citations -
Structure-activity relationship of S-adenosylmethionine analogs as pharmacological chaperones for cystathionine beta-synthase-deficient homocystinuria2025 International Journal of Biological Macromolecules article Medicine Folate and B Vitamins Research Open access
Thilo Magnus Philipp, Ela Mijatović, Maria Petrosino, Kelly Ascenção, Teodoro Bottiglieri, Elmar G. Weinhold, +3 more
1citations -
A robust bacterial high-throughput screening assay to identify pharmacological chaperones targeting human homogentisate 1,2-dioxygenase missense variants in alkaptonuria2025 European Journal of Pharmacology article Biochemistry, Genetics and Molecular Biology Metabolism and Genetic Disorders
Sien Lequeue, Hind Allach, Ine Nulmans, Liesbeth Desmet, Nina Stefanie Salvi, Matthias Rombaut, +4 more
1citations -
Molecular and Clinical Repercussions of GABA Transporter 1 Variants Gone Amiss: Links to Epilepsy and Developmental Spectrum Disorders2022 Frontiers in Molecular Biosciences article Medicine Epilepsy research and treatment Open access
Florian P. Fischer, Ameya Sanjay Kasture, Thomas Hummel, Sonja Sučić
40citations -
Fluorescence polarisation activity-based protein profiling for the identification of deoxynojirimycin-type inhibitors selective for lysosomal retaining alpha- and beta-glucosidases
Daniël van der Gracht, Rhianna J. Rowland, V. Roig-Zamboni, Maria J. Ferraz, Max Louwerse, Paul P. Geurink, +5 more
12citations -
A transporter’s doom or destiny: SLC6A1 in health and disease, novel molecular targets and emerging therapeutic prospects2024 Frontiers in Molecular Neuroscience article Medicine Epilepsy research and treatment Open access
Nikita Shah, Ameya Sanjay Kasture, Florian P. Fischer, Harald H. Sitte, Thomas Hummel, Sonja Sučić
15citations -
Fabry Disease: Molecular Basis, Pathophysiology, Diagnostics and Potential Therapeutic Directions2021 Biomolecules article Medicine Lysosomal Storage Disorders Research Open access cited by 1 patent
Ken Kok, Kimberley C. Zwiers, Rolf G. Boot, Herman S. Overkleeft, Johannes M. F. G. Aerts, Marta Artola
131citations -
Unraveling A4GALT Mechanism and Its Modulation With Adamantyl‐Galactosylceramide Analogues: Advancing Fabry Disease Therapeutic Strategies2026 Angewandte Chemie International Edition article Medicine Lysosomal Storage Disorders Research Open access
Nicky de Koster, Òscar Vidal-Gironès, Rowan de Graaf, Ken Kok, Lindsey T. Lelieveld, Jackelien Hoogervorst, +8 more
1citations -
BYL-719 administration prevents heterotopic ossification in FOP mice irrespective of ACVR1/ALK2 kinase activity2022 Bone Reports conference-abstract Medicine Heterotopic Ossification and Related Conditions Open access
Marius Wits, José Antonio Valer, Marie‐José Goumans, Francesc Ventura, Gonzalo Sánchez‐Duffhues
0citations
19 results