Platt, F. M., D’Azzo, A., Davidson, B. L., Neufeld, E. F. & Tifft, C. Lysosomal storage diseases. Nat. Rev. Dis. Prim. 4, 27 (2018).

Article  PubMed  Google Scholar 

Ballout, R. A. Niemann-Pick disease type C (NPC). Genetic Syndromes https://doi.org/10.1007/978-3-319-66816-1_1339-1 (2021).

Parenti, G., Andria, G. & Ballabio, A. Lysosomal storage diseases: from pathophysiology to therapy. Annu. Rev. Med. 66, 471–486 (2015).

Article  CAS  PubMed  Google Scholar 

Devlin, C. et al. Improvement in lipid and protein trafficking in Niemann-Pick C1 cells by correction of a secondary enzyme defect. Traffic 11, 601–615 (2010).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Gieselmann, V. What can cell biology tell us about heterogeneity in lysosomal storage diseases? Acta Paediatr. Suppl. 94, 80–86 (2005).

Article  CAS  PubMed  Google Scholar 

Beck, M. Variable clinical presentation in lysosomal storage disorders. J. Inherit. Metab. Dis. 24, 47–51 (2001).

Article  PubMed  Google Scholar 

Carstea, E. D. et al. Niemann-Pick C1 disease gene: Homology to mediators of cholesterol homeostasis. Science (1979) 277, 228–231 (1997).

CAS  Google Scholar 

Naureckiene, S. et al. Identification of HE1 as the second gene of Niemann-Pick C disease. Science 290, 2298–2301 (2000).

Article  CAS  PubMed  Google Scholar 

Wraith, J. E. et al. Recommendations on the diagnosis and management of Niemann-Pick disease type C. Mol. Genet. Metab. 98, 152–165 (2009).

Article  CAS  PubMed  Google Scholar 

Jiang, X. & Ory, D. S. Advancing diagnosis and treatment of Niemann-Pick C disease through biomarker discovery. Explor. Neuroprotective Ther. 1, 146–158 (2021).

Article  PubMed  PubMed Central  Google Scholar 

Labrecque, M., Touma, L., Bhérer, C., Duquette, A. & Tétreault, M. Estimated prevalence of Niemann-Pick type C disease in Quebec. Sci. Rep. 11, 22621 (2021).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Burton, B. K. et al. Estimating the prevalence of Niemann-Pick disease type C (NPC) in the United States. Mol. Genet. Metab. 134, 182–187 (2021).

Article  CAS  PubMed  Google Scholar 

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. Genet. Med. 18, 41–48 (2016).

Article  CAS  PubMed  Google Scholar 

Davies, J. P., Chen, F. W. & Ioannou, Y. A. Transmembrane molecular pump activity of Niemann-Pick C1 protein. Science 290, 2295–2298 (2000).

Article  CAS  PubMed  Google Scholar 

Kuwabara, P. E. & Labouesse, M. The sterol-sensing domain: multiple families, a unique role? Trends Genet. 18, 193–201 (2002).

Article  CAS  PubMed  Google Scholar 

Li, X. et al. 3.3 Å structure of Niemann-Pick C1 protein reveals insights into the function of the C-terminal luminal domain in cholesterol transport. Proc. Natl Acad. Sci. USA 114, 9116–9121 (2017).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Infante, R. E. et al. Purified NPC1 protein: II. Localization of sterol binding to a 240-amino acid soluble luminal loop. J. Biol. Chem. 283, 1064–1075 (2008).

Article  CAS  PubMed  Google Scholar 

Kwon, H. J. et al. Structure of N-terminal domain of NPC1 reveals distinct subdomains for binding and transfer of cholesterol. Cell 137, 1213–1224 (2009).

Article  PubMed  PubMed Central  Google Scholar 

Xu, S., Benoff, B., Liou, H. L., Lobel, P. & Stock, A. M. Structural basis of sterol binding by NPC2, a lysosomal protein deficient in Niemann-Pick type C2 disease. J. Biol. Chem. 282, 23525–23531 (2007).

Article  CAS  PubMed  Google Scholar 

Vance, J. E. Lipid imbalance in the neurological disorder, Niemann-Pick C disease. FEBS Lett. 580, 5518–5524 (2006).

Article  CAS  PubMed  Google Scholar 

Winkler, M. B. L. et al. Structural insight into eukaryotic sterol transport through Niemann-Pick type C proteins. Cell 179, 485–497.e18 (2019).

Article  CAS  PubMed  Google Scholar 

Lloyd-Evans, E. et al. Niemann-Pick disease type C1 is a sphingosine storage disease that causes deregulation of lysosomal calcium. Nat. Med. 14, 1247–1255 (2008).

Article  CAS  PubMed  Google Scholar 

Malathi, K. et al. Mutagenesis of the putative sterol-sensing domain of yeast Niemann Pick C-related protein reveals a primordial role in subcellular sphingolipid distribution. J. Cell Biol. 164, 547–556 (2004).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Liu, B. et al. Reversal of defective lysosomal transport in NPC disease ameliorates liver dysfunction and neurodegeneration in the npc1-/- mouse. Proc. Natl Acad. Sci. USA 106, 2377–2382 (2009).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Lopez, M. E., Klein, A. D., Hong, J., Dimbil, U. J. & Scott, M. P. Neuronal and epithelial cell rescue resolves chronic systemic inflammation in the lipid storage disorder Niemann-Pick C. Hum. Mol. Genet. 21, 2946–2960 (2012).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Walkley, S. U. & Suzuki, K. Consequences of NPC1 and NPC2 loss of function in mammalian neurons. Biochim. Biophys. Acta 1685, 48–62 (2004).

Article  CAS  PubMed  Google Scholar 

Lopez, M. E., Klein, A. D., Dimbil, U. J. & Scott, M. P. Anatomically defined neuron-based rescue of neurodegenerative Niemann-Pick type C disorder. J. Neurosci. 31, 4367–4378 (2011).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Vanier, M. T. & Millat, G. Niemann-Pick disease type C. Clin. Genet. 64, 269–281 (2003).

Article  CAS  PubMed  Google Scholar 

Pallottini, V. & Pfrieger, F. W. Understanding and treating niemann–pick type c disease: Models matter. Int. J. Mol. Sci. 21, 1–37 (2020).

Article  Google Scholar 

Vanier, M. Niemann-Pick disease type C. Orphanet J. Rare Dis. 5, 16 (2010).

Article  PubMed  PubMed Central  Google Scholar 

Yu, T. & Lieberman, A. P. Npc1 acting in neurons and glia is essential for the formation and maintenance of CNS myelin. PLoS Genet. 9, e1003462 (2013).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Vanier, M. T. Complex lipid trafficking in Niemann-Pick disease type C. J. Inherit. Metab. Dis. 38, 187–199 (2015).

Article  CAS  PubMed  Google Scholar 

Evans, W. et al. International consensus on clinical severity scale use in evaluating Niemann-Pick disease Type C in paediatric and adult patients: results from a Delphi Study. Orphanet J. Rare Dis. 16, 482 (2021).

Article  PubMed  PubMed Central  Google Scholar 

Vanier, M. T. et al. Type C Niemann-Pick disease: spectrum of phenotypic variation in disruption of intracellular LDL-derived cholesterol processing. Biochim. Biophys. Acta 1096, 328–337 (1991).

Article  CAS  PubMed  Google Scholar 

Bolton, S. C. et al. Clinical disease characteristics of patients with Niemann-Pick Disease Type C: findings from the International Niemann-Pick Disease Registry (INPDR). Orphanet J. Rare Dis. 17, 51 (2022).

Article  PubMed  PubMed Central  Google Scholar 

Spiegel, R. et al. The clinical spectrum of fetal Niemann-Pick type C. Am. J. Med. Genet. A 149A, 446–450 (2009).

Article  CAS  PubMed  Google Scholar 

Kelly, D. A., Portmann, B., Mowat, A. P., Sherlock, S. & Lake, B. D. Niemann-Pick disease type C: diagnosis and outcome in children, with particular reference to liver disease. J. Pediatr. 123, 242–247 (1993).

Article  CAS  PubMed  Google Scholar 

Yerushalmi, B. et al. Niemann-Pick disease type C in neonatal cholestasis at a North American Center. J. Pediatr. Gastroenterol. Nutr. 35, 44–50 (2002).

Article  PubMed  Google Scholar