d’Azzo, Alessandra

Lysosomal storage diseases

Platt, F. M., d’Azzo, A., Davidson, B. L., Neufeld, E. F., & Tifft, C. J. (2018) · Nature Reviews Disease Primers

Lysosomal Storage Disorders ResearchGlycogen Storage Diseases and Myoclonus

Cited by 1,052

Lysosomal NEU1 deficiency affects amyloid precursor protein levels and amyloid-β secretion via deregulated lysosomal exocytosis

Annunziata, I., Patterson, A., Helton, D., Hu, H., Moshiach, S., Gomero, E., Nixon, R., & d’Azzo, A. (2013) · Nature Communications

Alzheimer's disease research and treatmentsGlycosylation and Glycoproteins Research

Cited by 146

Expression Specificity of GFAP Transgenes

Su, M., Hu, H., Lee, Y., D’Azzo, A., Messing, A., & Brenner, M. (2004) · Neurochemical Research

Virus-based gene therapy researchRNA Interference and Gene Delivery

Cited by 124

Lysosomal multienzyme complex: pros and cons of working together

Bonten, E. J., Annunziata, I., & d’Azzo, A. (2014) · Cellular and Molecular Life Sciences

Lysosomal Storage Disorders ResearchGlycogen Storage Diseases and Myoclonus

Cited by 117

Pathogenesis, emerging therapeutic targets and treatment in sialidosis

D’Azzo, A., Machado, E., & Annunziata, I. (2015) · Expert Opinion on Orphan Drugs

Lysosomal Storage Disorders ResearchGlycogen Storage Diseases and Myoclonus

Cited by 76

Galactosialidosis: review and analysis of CTSA gene mutations

Caciotti, A., Catarzi, S., Tonin, R., Lugli, L., Perez, C. R., Michelakakis, H., Mavridou, I., Donati, M. A., Guerrini, R., d’Azzo, A., et al. (2013) · Orphanet Journal of Rare Diseases

Lysosomal Storage Disorders ResearchMetabolism and Genetic Disorders

Cited by 73

Correction of murine galactosialidosis by bone marrow-derived macrophages overexpressing human protective protein/cathepsin A under control of the colony-stimulating factor-1 receptor promoter

Hahn, C. N., del Pilar Martin, M., Zhou, X.-Y., Mann, L. W., & d’Azzo, A. (1998) · Proceedings of the National Academy of Sciences

Lysosomal Storage Disorders ResearchGlycogen Storage Diseases and Myoclonus

Cited by 56

Galactosialidosis: historic aspects and overview of investigated and emerging treatment options

Annunziata, I., & d’Azzo, A. (2017) · Expert Opinion on Orphan Drugs

Lysosomal Storage Disorders ResearchGlycogen Storage Diseases and Myoclonus

Cited by 50

Short-term, high dose enzyme replacement therapy in sialidosis mice

Wang, D., Bonten, E. J., Yogalingam, G., Mann, L., & d’Azzo, A. (2005) · Molecular Genetics and Metabolism

Lysosomal Storage Disorders ResearchGlycogen Storage Diseases and Myoclonus

Cited by 50

The atomic model of the human protective protein/cathepsin A suggests a structural basis for galactosialidosis

Rudenko, G., Bonten, E., Hol, W. G. J., & d’Azzo, A. (1998) · Proceedings of the National Academy of Sciences

Lysosomal Storage Disorders ResearchGlycogen Storage Diseases and Myoclonus

Cited by 36

Neuraminidase 1 regulates neuropathogenesis by governing the cellular state of microglia via modulation of Trem2 sialylation

Fremuth, L. E., Hu, H., van de Vlekkert, D., Annunziata, I., Weesner, J. A., & d’Azzo, A. (2025) · Cell Reports

Neuroinflammation and Neurodegeneration MechanismsGlycosylation and Glycoproteins Research

Cited by 29

Conventional and Unconventional Therapeutic Strategies for Sialidosis Type I

Mosca, R., van de Vlekkert, D., Campos, Y., Fremuth, L. E., Cadaoas, J., Koppaka, V., Kakkis, E., Tifft, C., Toro, C., Allievi, S., et al. (2020) · Journal of Clinical Medicine

Lysosomal Storage Disorders ResearchGlycogen Storage Diseases and Myoclonus

Cited by 27