LYSOSOMAL STORAGE DISEASES

• Evaluation of the efficacy of cystinosin supplementation through CTNS mRNA delivery in experimental models for cystinosis

  2023 Scientific Reports article Medicine Biomedical Research and Pathophysiology Open access cited by 3 patents

  12

  citations
• Animal Models for the Study of Gaucher Disease

  2023 International Journal of Molecular Sciences article Medicine Lysosomal Storage Disorders Research Open access

  11

  citations
• Gaucher disease protects against tuberculosis

  2023 Proceedings of the National Academy of Sciences article Medicine Lysosomal Storage Disorders Research Open access

  21

  citations
• Fluorescence polarisation activity-based protein profiling for the identification of deoxynojirimycin-type inhibitors selective for lysosomal retaining alpha- and beta-glucosidases

  2023 Chemical Science article Medicine Lysosomal Storage Disorders Research Open access

  12

  citations
• Current methods to analyze lysosome morphology, positioning, motility and function

  2022 Traffic article Biochemistry, Genetics and Molecular Biology Cellular transport and secretion Open access

  187

  citations
• Consequences of excessive glucosylsphingosine in glucocerebrosidase-deficient zebrafish.

  2022 Journal of Lipid Research article Medicine Lysosomal Storage Disorders Research Open access

  18

  citations
• Proteotyping of knockout mouse strains reveals sex- and strain-specific signatures in blood plasma

  2021 npj Systems Biology and Applications article Chemistry Advanced Proteomics Techniques and Applications Open access

  7

  citations
• Glucocerebrosidase: Functions in and Beyond the Lysosome

  2020 Journal of Clinical Medicine article Medicine Lysosomal Storage Disorders Research Open access cited by 2 patents

  113

  citations

8 results