NPC1: Complete genomic sequence, mutation analysis, and characterization of haplotypes

Human Mutation

Volumn 19, Issue 1, 2002, Pages 30-38

  Bauer, Peter ^a   Knoblich, Rupert ^a   Bauer, Claudia ^a   Finckh, Ulrich ^b   Hufen, Antje ^a   Kropp, Julia ^a   Braun, Silja ^a   Kustermann Kuhn, Birgit ^d   Schmidt, Dörthe ^c   Harzer, Klaus ^d   Rolfs, Arndt ^a  

^a UNIVERSITY OF ROSTOCK   (Germany)

^b UNIVERSITY OF HAMBURG   (Germany)

^c UNIVERSITY HOSPITAL ESSEN   (Germany)

^d UNIVERSITY OF TÜBINGEN   (Germany)

Author keywords

Cholesterol; Genomic sequence; Haplotype; LDL; Niemann Pick disease type C; NP C; NPC1; SNP

Indexed keywords

GENE PRODUCT; PROTEIN NPC1; UNCLASSIFIED DRUG;

ALLELE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CAUCASIAN; CLINICAL ARTICLE; CONTROLLED STUDY; EXON; GENE SEQUENCE; GENETIC RECOMBINATION; HAPLOTYPE; HETEROZYGOTE; HUMAN; HUMAN TISSUE; INTRON; LYSOSOME; MISSENSE MUTATION; NIEMANN PICK DISEASE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROGENY; PROMOTER REGION; SEGREGATION ANALYSIS; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM;

MARTES PENNANTI;

EID: 0036135784     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.10016     Document Type: Article

References (32)

1. Niemann-Pick C1 disease gene: Homology to mediators of cholesterol homeostasis
2. Transmembrane molecular pump activity of Niemann-Pick C1 protein
3. 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 protein
4. Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion
5. The Nova Scotia (type D) form of Niemann-Pick disease is caused by a G3097→T transversion in NPC1
6. Mutations in NPC1 highlight a conserved NPC1-specific cysteine-rich domain
7. PCR-assisted cDNA cloning: A guided tour of the minefield
8. Niemann-Pick C1 disease: The I1061T substitution is a frequent mutant allele in patients of Western European descent and correlates with a classic juvenile phenotype
9. 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
10. A simple salting out procedure for extracting DNA from human nucleated cells
11. The genomic organization and polymorphism analysis of the human Niemann-Pick C1 gene
12. Identification of HE1 as the second gene of Niemann-Pick C disease
13. Niemann-Pick disease type C: A lipid trafficking disorder
14. The cholesterol storage disorder of the mutant BALB/c mouse. A primary genetic lesion closely linked to defective esterification of exogenously derived cholesterol and its relationship to human type C Niemann-Pick disease
15. Group C Niemann-Pick disease: Faulty regulation of low- density lipoprotein uptake and cholesterol storage in cultured fibroblasts
16. The Niemann-Pick C lesion and its relationship to the intracellular distribution and utilization of LDL cholesterol
17. MatInd and MatInspector: New fast and versatile tools for detection of consensus matches in nucleotide sequence data
18. Type C Niemann-Pick disease. Lysosomal accumulation and defective intracellular mobilization of low density lipoprotein cholesterol
19. Niemann-Pick C variant detection by altered sphingolipid trafficking and correlation with mutations within a specific domain of NPC1
20. From the double-helix to novel approaches to the sequencing of large genomes
21. Type C Niemann-Pick disease: Biochemical aspects and phenotypic heterogeneity
22. Prenatal diagnosis of Niemann-Pick type C disease: Current strategy from an experience of 37 pregnancies at risk
23. Genetic heterogeneity in Niemann-Pick C disease: A study using somatic cell hybridization and linkage analysis
24. Recent advances in elucidating Niemann-Pick C disease
25. Niemann-Pick C1 protein: Obligatory roles for N-terminal domains and lysosomal targeting in cholesterol mobilization
26. Mutations in the leucine zipper motif and sterol-sensing domain inactivate the Niemann-Pick C1 glycoprotein
27. Determinants of NPC1 expression and action: Key promoter regions, posttranscriptional control, and the importance of a cysteine-rich loop
28. NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C
29. Genotype-phenotype relationship of Niemann-Pick disease type C: A possible correlation between clinical onset and levels of NPC1 protein in isolated skin fibroblasts