Lysosomal and network alterations in human mucopolysaccharidosis type VII iPSC-derived neurons
Author:
Funder
EC | European Research Council
European Commission
Publisher
Springer Science and Business Media LLC
Subject
Multidisciplinary
Link
http://www.nature.com/articles/s41598-018-34523-3.pdf
Reference69 articles.
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2. Montaño, A. M. et al. Clinical course of sly syndrome (mucopolysaccharidosis type VII). J. Med. Genet. jmedgenet-2015-103322- https://doi.org/10.1136/jmedgenet-2015-103322 (2016).
3. Tomatsu, S. et al. Molecular basis of mucopolysaccharidosis type VII: replacement of Ala619 in β-glucuronidase with Val. Gene 89, 283–287 (1990).
4. Tomatsu, S., Montaño, A. M., Dung, V. C., Grubb, J. H. & Sly, W. S. Mutations and Polymorphisms in GUSB Gene in Mucopolysaccharidosis VII (Sly Syndrome). Hum Mutat. 30, 511–519 (2009).
5. Wang, P. et al. Mucopolysaccharidosis VII in a Cat Caused by 2 Adjacent Missense Mutations in the GUSB Gene. J Vet Intern Med 29, 1022–1028 (2015).
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