Different Niemann-Pick C1 Genotypes Generate Protein Phenotypes that Vary in their Intracellular Processing, Trafficking and Localization
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Publisher
Springer Science and Business Media LLC
Subject
Multidisciplinary
Link
http://www.nature.com/articles/s41598-019-41707-y.pdf
Reference51 articles.
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2. Lloyd-Evans, E. & Platt, F. M. Lipids on trial: the search for the offending metabolite in Niemann-Pick type C disease. Traffic (Copenhagen, Denmark) 11, 419–428, https://doi.org/10.1111/j.1600-0854.2010.01032.x (2010).
3. Garver, W. S. et al. The National Niemann-Pick C1 disease database: report of clinical features and health problems. American journal of medical genetics. Part A 143a, 1204–1211, https://doi.org/10.1002/ajmg.a.31735 (2007).
4. Millat, G. et al. Niemann-Pick C disease: use of denaturing high performance liquid chromatography for the detection of NPC1 and NPC2 genetic variations and impact on management of patients and families. Molecular genetics and metabolism 86, 220–232, https://doi.org/10.1016/j.ymgme.2005.07.007 (2005).
5. Wassif, C. A. et al. High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets. Genetics in medicine: official journal of the American College of Medical Genetics 18, 41–48, https://doi.org/10.1038/gim.2015.25 (2016).
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