Publications

d'Azzo A, et al. Pathogenesis, Emerging therapeutic targets and Treatment in Sialidosis.Expert Opin Orphan Drugs. 2015;3(5):491-504. PMID: 26949572.

Bonten E, et al. Characterization of human lysosomal neuraminidase defines the molecular basis of the metabolic storage disorder sialidosis.Genes Dev. 10: 3156-3169, 1996. PMID: 8985184.

Bonten EJ, et al. Novel mutations in lysosomal neuraminidase identify functional domains and determine clinical severity in sialidosis. Hum. Molec. Genet. 9: 2715-2725, 2000. PMID: 11063730.

Bonten EJ, et al. Heterodimerization of the sialidase NEU1 with the chaperone protective protein/cathepsin A prevents its premature oligomerization. J Biol Chem. 2009;284(41):28430–41. PMID: 19666471.

Bonten EJ, et al. Chaperone-mediated gene therapy with recombinant AAV-PPCA in a new mouse model of type I sialidosis.Biochem Biophys Acta. 2013;1832(10):1784–92. PMID: 23770387.

Fuller M, et al. Epidemiology of lysosomal storage diseases: an overview.In: Mehta A, Beck M, Sunder-Plassmann G (eds.). Fabry Disease: Perspectives from 5 Years of FOS [Internet]. Oxford: Oxford PharmaGenesis; 2006. PMID: 21290699.

Mosca R, et al. Conventional and Unconventional Therapeutic Strategies for Sialidosis Type I.J Clin Med. 2020 Mar 4;9(3):695. PMID: 32143456.

Peng ML, et al. Genetic Insights and Clinical Implications of NEU1 Mutations in Sialidosis.Genes (Basel). 2025 Jan 25;16(2):151. doi: 10.3390/genes16020151. PMID: 40004480.

Spranger JW, et al. Lipomucopolysaccharidose: eine neue Speicherkrankheit.Z. Kinderheilk. 103: 285-306, 1968. PMID: 4235073.

S-C Lai, et al. A longitudinal study of Taiwanese sialidosis type 1: an insight into the concept of cherry-red spot myoclonus syndrome.Eur J Neurol. 2009 Aug;16(8):912-9. PMID: 19473359.

Coppola A, et al. Diagnosis and Management of Type 1 Sialidosis: Clinical Insights from Long-Term Care of Four Unrelated Patients.Brain Sci. 2020 Aug 1;10(8):506. PMID: 32752208.

van de Vlekkert D, et al. AAV-mediated gene therapy for sialidosis.Mol Ther. 2024 Jul 3;32(7):2094-2112. PMID: 38796704.

Wuh-Liang Hwu, et al. Gene therapy corrects the neurological deficits of mice with sialidosis.Gene Ther. 2024 May;31(5-6):263-272. PMID: 38321198.