New murine Niemann-Pick type C models bearing a pseudoexon-generating mutation recapitulate the main neurobehavioural and molecular features of the disease-Reference-Cited by-同舟云学术

New murine Niemann-Pick type C models bearing a pseudoexon-generating mutation recapitulate the main neurobehavioural and molecular features of the disease

Published:2017-02 Issue:1 Volume:7 Page:
ISSN:2045-2322
Container-title:Scientific Reports
language:en
Short-container-title:Sci Rep

Author:

Gómez-Grau Marta,Albaigès Júlia,Casas Josefina,Auladell Carme,Dierssen Mara,Vilageliu Lluïsa,Grinberg Daniel

Publisher

Springer Science and Business Media LLC

Subject

Multidisciplinary

Link

http://www.nature.com/articles/srep41931.pdf

Reference33 articles.

1. Vance, J. E. & Karten, B. Niemann-Pick C disease and mobilization of lysosomal cholesterol by cyclodextrin. J Lipid Res 55, 1609–1621 (2014).

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

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

4. Morris, J. A. et al. The genomic organization and polymorphism analysis of the human Niemann-Pick C1 gene. Biochem Biophys Res Commun 261, 493–498 (1999).

5. Davies, J. P. & Ioannou, Y. A. Topological analysis of Niemann-Pick C1 protein reveals that the membrane orientation of the putative sterol-sensing domain is identical to those of 3-hydroxy-3-methylglutaryl-CoA reductase and sterol regulatory element binding protein cleavage-activating. J Biol Chem 275, 24367–24374 (2000).

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