NPC-db, a Niemann-Pick type C disease gene variation database

Human Mutation

Volumn 29, Issue 3, 2008, Pages 345-350

  Runz, Heiko ^a   Dolle, Dirk ^a   Schlitter, Anna Melissa ^a   Zschocke, Johannes ^a  

^a UNIVERSITY OF HEIDELBERG   (Germany)

Author keywords

Cholesterol; Gene; Locus specific database; Lysosomal storage disease; Metabolism; Mutation; Niemann Pick; NPC1; NPC2

Indexed keywords

CHOLESTEROL; GLYCOSPHINGOLIPID;

AUTOSOMAL RECESSIVE DISORDER; CELL COMPARTMENTALIZATION; DATA BASE; ENDOSOME; GENE; GENE IDENTIFICATION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HAPLOTYPE; HUMAN; LIVER DISEASE; LYSOSOME; LYSOSOME STORAGE DISEASE; NEUROLOGIC DISEASE; NIEMANN PICK DISEASE; NPC1 GENE; NPC2 GENE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; RARE DISEASE; REVIEW;

ALLELES; CARRIER PROTEINS; DATABASES, GENETIC; GENOTYPE; GLYCOPROTEINS; HUMANS; MEMBRANE GLYCOPROTEINS; NIEMANN-PICK DISEASE, TYPE C; PHENOTYPE; VARIATION (GENETICS);

EID: 40549104734     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20636     Document Type: Review

References (24)

1. Bauer P, Knoblich R, Bauer C, Finckh U, Hufen A, Kropp J, Braun S, Kustermann-Kuhn B, Schmidt D, Harzer K, Rolfs A. 2002. NPC1: complete genomic sequence, mutation analysis and characterization of haplotypes. Hum Mutat 19:30-38.
2. Battisti C, Tarugi P, Dotti MT, De Stefano N, Vattimo A, Chierichetti F, Calandra S, Federico A. 2003. Adult onset Niemann-Pick type C disease: a clinical, neuroimaging and molecular genetic study. Mov Disord 18:1405-1409.
3. Carstea ED, Morris JA, Coleman KG, Loftus SK, Zhang D, Cummings C, Gu J, Rosenfeld MA, Pavan WJ, Krizman DB, Nagle J, Polymeropoulos MH, Sturley SL, Ioannou YA, Higgins ME, Comly M, Cooney A, Brown A, Kaneski CR, Blanchette-Mackie EJ, Dwyer NK, Neufeld EB, Chang TY, Liscum L, Strauss JF 3rd, Ohno K, Zeigler M, Carmi R, Sokol J, Markie D, O'Neill RR, van Diggelen OP, Elleder M, Patterson MC, Brady RO, Vanier MT, Pentchev PG, Tagle DA. 1997. Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis. Science 277:228-231.
4. Cotton RGH, Scriver CR. 1998. Proof of "disease causing" mutation. Hum Mutat 12:1-3.
5. Cotton RGH, Phillips K, Horaitis O. 2007. A survey of locus-specific database curation. J Med Genet 44:e72.
6. den Dunnen JT, Antonarakis SE. 2000. Nomenclature for the description of human sequence variations. Hum Mutat 15:7-12.
7. Fokkema IF, den Dunnen JT, Taschner PE. 2005. LOVD: easy creation of a locus-specific sequence variation database using an "LSDB-in-a-box" approach. Hum Mutat 26:63-68.
8. Friedland N, Liou HL, Lobel P, Stock AM. 2003. Structure of a cholesterol-binding protein deficient in Niemann-Pick type C2 disease. Proc Natl Acad Sci USA 100:2512-2517.
9. Greer WL, Riddell DC, Gillan TL, Girouard GS, Sparrow SM, Byers DM, Dobson MJ, Neumann PE. 1998. The Nova Scotia (type D) form of Niemann-Pick disease is caused by a G3097->T transversion in NPC1. Am J Hum Genet 63:52-54.
10. Higgins ME, Davies JP, Chen FW, Ioannou YA. 1999. Niemann-Pick C1 is a late endosome-resident protein that transiently associates with lysosomes and the trans-Golgi network. Mol Genet Metab 68:1-13.
11. Ikonen E, Hölttä-Vuori M. 2004. Cellular pathology of Niemann-Pick type C disease. Semin Cell Dev Biol 15:445-454.
12. Imrie J, Dasgupta S, Besley GTN, Harris C, Heptinstall L, Knight S, Vanier MT, Fensom AH, Ward C, Jacklin E, Witehouse C, Wraith JE. 2007. The natural history of Niemann-Pick type C disease in the UK. J Inherit Metab Dis 30:51-59.
13. Ko DC, Binkley J, Sidow A, Scott MP. 2003. The integrity of a cholesterol-binding pocket in Niemann-Pick C2 protein is necessary to control lysosome cholesterol levels. Proc Natl Acad Sci USA 100:2518-2525.
14. Millat G, Marcais C, Rafi MA, Yamamoto T, Morris JA, Pentchev PG, Ohno K, Wenger DA, Vanier MT. 1999. Niemann-Pick C1 disease: the 11061 T substitution is a frequent mutant allele in patients of western European descent and correlates with a classic juvenile phenotype. Am J Hum Genet 65:1321-1329.
15. Millat G, Marcais C, Tomasetto C, Chikh K, Fensom AH, Harzer K, Wenger DA, Ohno K, Vanier MT. 2001. 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. Am J Hum Genet 68:1373-1385.
16. Millat G, Bailo N, Molinero S, Rodriguez C, Chikh K, Vanier MT. 2005. Niemann-Pick C disease: use of denaturing high performance liquid chromatography for the detection of NPC1 and NPC2 genetic variations and impact on management of patients and families. Mol Genet Metab 86:220-232.
17. Morris JA, Zhang D, Coleman KG, Nagle J, Pentchev PG, Castea ED. 1999. The genomic organization and polymorphism analysis of the human Niemann-Pick C1 gene. Biochem Biophys Res Commun 261:493-498.
18. Naureckiene S, Sleat DE, Lackland H, Fensom A, Vanier MA, Wattiaux R, Jadot M, Lobel P. 2000. Identification of HE1 as the second gene of Niemann-Pick C disease. Science 290:2298-2301.
19. Neufeld EB, Wastney M, Patel S, Suresh S, Cooney AM, Dwyer NK, Roff CF, Ohno K, Morris JA, Carstea ED, Incardona JP, Strauss JF 3rd, Vanier MT, Patterson MC, Brady RO, Pentchev PG, Blanchette-Mackie EJ. 1999. The Niemann-Pick C1 protein resides in a vesicular compartment linked to retrograde transport of multiple lysosomal cargo. J Biol Chem 274:9627-9635.
20. Patterson MC, Vanier MT, Suzuki K, Morris JA, Carstea E, Neufeld EB, Blanchette-Mackie JE, Pentchev P. 2001. Niemann-Pick Disease type C: a lipid trafficking disorder. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic and molecular bases of inherited disease. New York: McGraw Hill. p 3611-3634.
21. Ribeiro I, Marcao A, Amaral O, Sa Miranda MC, Vanier MT, Millat G. 2001. Niemann-Pick type C disease: NPC1 mutations associated with severe and mild cellular cholesterol trafficking alterations. Hum Genet 109:24-32.
22. Sleat DE, Wiseman JA, El-Banna M, Price SM, Verot L, Shen MM, Tint GS, Vanier MT, Walkley SU, Lobel P. 2004. Genetic evidence for nonredundant functional cooperativity between NPC1 and NPC2 in lipid transport. Proc Natl Acad Sci USA 101:5886-5891.
23. Vanier MT, Millat G. 2003. Niemann-Pick disease type C. Clin Genet 64:269-281.
24. Verot L, Chikh K, Freydiere E, Honore R, Vanier M, Millat G. 2007. Niemann-Pick type C disease: functional characterization of three NPC2 mutations and clinical and molecular update on patients with NPC2. Clin Genet 71:320-330.