Niemann–Pick type C disease involves disrupted neurosteroidogenesis and responds to allopregnanolone

Author:

Griffin Lisa D,Gong Wenhui,Verot Lucie,Mellon Synthia H

Publisher

Springer Science and Business Media LLC

Subject

General Biochemistry, Genetics and Molecular Biology,General Medicine

Reference50 articles.

1. Patterson, M.C. et al. Niemann-Pick disease type C: a lipid trafficking disorder. in The Metabolic and Molecular Bases of Inherited Disease (eds. Scriver, C.R., Beaudet, A.L., Sly, W.S. & Valle, D.) 3611–3633 (McGraw-Hill, New York, 2001).

2. Fink, J.K. et al. Clinical spectrum of Niemann-Pick disease type C. Neurology 39, 1040–1049 (1989).

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

4. Vanier, M.T., Duthel, S., Rodriguez-Lafrasse, C., Pentchev, P. & Carstea, E.D. Genetic heterogeneity in Niemann-Pick C disease: a study using somatic cell hybridization and linkage analysis. Am. J. Hum. Genet. 58, 118–125 (1996).

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

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