Critical role for glycosphingolipids in Niemann-Pick disease type C

Current Biology

Volumn 11, Issue 16, 2001, Pages 1283-1287

  Zervas, Mark ^a,c   Somers, Kyra L ^b   Thrall, Mary Anna ^b   Walkley, Steven U ^a  

^a ALBERT EINSTEIN COLLEGE OF MEDICINE   (United States)

^b Department of Environmental and Radiological Health Sciences   (United States)

^c NEW YORK UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANIMAL MODEL; BIOCHEMICAL PATHWAY; CAT; CHOLESTEROL; GENE LOCUS; GLYCOSPHINGOLIPID; HOMEOSTASIS; MOUSE; NIEMANN PICK DISEASE; PROTEIN DOMAIN; STEROL;

ANIMALIA; FELIDAE; FELIS CATUS; MURINAE;

EID: 0035928841     PISSN: 09609822     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0960-9822(01)00396-7     Document Type: Article

References (28)

1. Niemann-Pick disease type C: A lipid trafficking disorder
2. Niemann-Pick C1 disease gene: Homology to mediators of cholesterol homeostasis
3. Murine model of Niemann-Pick C disease: Mutation in a cholesterol homeostasis gene
4. Complementation studies in human and feline Niemann-Pick type C disease
5. Niemann-Pick C1 is a late endosome-resident protein that transiently associates with lysosomes and the trans-Golgi network
6. The Niemann-Pick C1 protein resides in a vesicular compartment linked to retrograde transport of multiple lysosomal cargo
7. Localization of the murine Niemann-Pick C1 protein to two distinct intracellular compartments
8. Lipid changes in Niemann-Pick disease type C brain: Personal experience and review of the literature
9. Neurons in Niemann-Pick disease type C accumulate gangliosides as well as unesterified cholesterol and undergo dendritic and axonal alterations
10. Juvenile dystonic lipidosis (variant of Niemann-Pick disease type C)
11. A lysosomal storage disorder in mice characterized by a dual deficiency of sphingomyelinase and glucocerebrosidase
12. GABAergic neuroaxonal dystrophy and other cytopathological alterations in feline Niemann-Pick disease type C
13. N-butyldeoxynojirimycin is a novel inhibitor of glycolipid biosynthesis
14. New therapeutic prospects for the glycosphingolipid lysosomal storage diseases
15. The NP-C gene: A key to pathways of intracellular cholesterol transport
16. Niemann-Pick type-C disease: Deficient intracellular transport of exogenously derived cholesterol
17. Cholesterol and oxygenated cholesterol concentrations are markedly elevated in peripheral tissue but not in brain from mice with the Niemann-Pick type C phenotype
18. Cholesterol balance and metabolism in mice with loss of function of Niemann-Pick C protein
19. Cellular pathology of lysosomal storage disorders
20. Gangliosides: Structure, isolation, and analysis
21. Pharmacological and genetic modifications of somatic cholesterol do not substantially alter the course of CNS disease in Niemann-Pick C mice
22. The effect of cholesterol-lowering agents on hepatic and plasma cholesterol in Niemann-Pick disease type C
23. Novel oral treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis
24. Prevention of lysosomal storage in Tay-Sachs mice treated with N-butyldeoxynojirimycin
25. Enhanced survival in Sandhoff disease mice receiving a combination of substrate deprivation therapy and bone marrow transplantation
26. A genetic model of substrate deprivation therapy for a glycosphingolipid storage disorder
27. Alleviation of neuronal ganglioside storage does not improve the clinical course of the Niemann-Pick C disease mouse
28. Feline Niemann-Pick disease type C