Niemann-Pick C1 Disease: Correlations between NPC1 Mutations, Levels of NPC1 Protein, and Phenotypes Emphasize the Functional Significance of the Putative Sterol-Sensing Domain and of the Cysteine-Rich Luminal Loop-Reference-Cited by-同舟云学术

Niemann-Pick C1 Disease: Correlations between NPC1 Mutations, Levels of NPC1 Protein, and Phenotypes Emphasize the Functional Significance of the Putative Sterol-Sensing Domain and of the Cysteine-Rich Luminal Loop

Published:2001-06 Issue:6 Volume:68 Page:1373-1385
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Millat Gilles,Marçais Christophe,Tomasetto Catherine,Chikh Karim,Fensom Anthony H.,Harzer Klaus,Wenger David A.,Ohno K.,Vanier Marie T.

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference45 articles.

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3. Defective activity of acyl-CoA:cholesterol O-acyltransferase in Niemann- Pick type C and type D fibroblasts;Byers;Biochem J,1989

4. Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis;Carstea;Science,1997

5. Deficient ferritin immunoreactivity in tissues from Niemann-Pick type C patients: extension of findings to fetal tissues, H and L ferritin isoforms, but also one case of the rare Niemann-Pick C2 complementation group;Christomanou;Mol Genet Metab,2000

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