186 related articles for article (PubMed ID: 15459971)
1. A point mutation in the lariat branch point of intron 6 of NPC1 as the cause of abnormal pre-mRNA splicing in Niemann-Pick type C disease.
Di Leo E; Panico F; Tarugi P; Battisti C; Federico A; Calandra S
Hum Mutat; 2004 Nov; 24(5):440. PubMed ID: 15459971
[TBL] [Abstract][Full Text] [Related]
2. Increased NPC1 mRNA in skin fibroblasts from Niemann-Pick disease type C patients.
Yamamoto T; Feng JH; Higaki K; Taniguchi M; Nanba E; Ninomiya H; Ohno K
Brain Dev; 2004 Jun; 26(4):245-50. PubMed ID: 15130691
[TBL] [Abstract][Full Text] [Related]
3. Antisense oligonucleotide treatment for a pseudoexon-generating mutation in the NPC1 gene causing Niemann-Pick type C disease.
Rodríguez-Pascau L; Coll MJ; Vilageliu L; Grinberg D
Hum Mutat; 2009 Nov; 30(11):E993-E1001. PubMed ID: 19718781
[TBL] [Abstract][Full Text] [Related]
4. Niemann-Pick type C disease: novel NPC1 mutations and characterization of the concomitant acid sphingomyelinase deficiency.
Tamura H; Takahashi T; Ban N; Torisu H; Ninomiya H; Takada G; Inagaki N
Mol Genet Metab; 2006 Feb; 87(2):113-21. PubMed ID: 16143556
[TBL] [Abstract][Full Text] [Related]
5. Identification of 58 novel mutations in Niemann-Pick disease type C: correlation with biochemical phenotype and importance of PTC1-like domains in NPC1.
Park WD; O'Brien JF; Lundquist PA; Kraft DL; Vockley CW; Karnes PS; Patterson MC; Snow K
Hum Mutat; 2003 Oct; 22(4):313-25. PubMed ID: 12955717
[TBL] [Abstract][Full Text] [Related]
6. Evidence for a Niemann-pick C (NPC) gene family: identification and characterization of NPC1L1.
Davies JP; Levy B; Ioannou YA
Genomics; 2000 Apr; 65(2):137-45. PubMed ID: 10783261
[TBL] [Abstract][Full Text] [Related]
7. Niemann-Pick type C disease: mutations of NPC1 gene and evidence of abnormal expression of some mutant alleles in fibroblasts.
Tarugi P; Ballarini G; Bembi B; Battisti C; Palmeri S; Panzani F; Di Leo E; Martini C; Federico A; Calandra S
J Lipid Res; 2002 Nov; 43(11):1908-19. PubMed ID: 12401890
[TBL] [Abstract][Full Text] [Related]
8. Niemann-Pick type C disease: subcellular location and functional characterization of NPC2 proteins with naturally occurring missense mutations.
Chikh K; Rodriguez C; Vey S; Vanier MT; Millat G
Hum Mutat; 2005 Jul; 26(1):20-8. PubMed ID: 15937921
[TBL] [Abstract][Full Text] [Related]
9. Functional characterization of the novel mutation IVS 8 (-11delC) (-14T>A) in the intron 8 of the glucocerebrosidase gene of two Italian siblings with Gaucher disease type I.
Romano M; Danek GM; Baralle FE; Mazzotti R; Filocamo M
Blood Cells Mol Dis; 2000 Jun; 26(3):171-6. PubMed ID: 10950936
[TBL] [Abstract][Full Text] [Related]
10. Identification of 25 new mutations in 40 unrelated Spanish Niemann-Pick type C patients: genotype-phenotype correlations.
Fernandez-Valero EM; Ballart A; Iturriaga C; Lluch M; Macias J; Vanier MT; Pineda M; Coll MJ
Clin Genet; 2005 Sep; 68(3):245-54. PubMed ID: 16098014
[TBL] [Abstract][Full Text] [Related]
11. A single base mutation in the 5' splice site of intron 7 of the lck gene is responsible for the deletion of exon 7 in lck mRNA of the JCaM1 cell line.
Rouer E; Brule F; Benarous R
Oncogene; 1999 Jul; 18(29):4262-8. PubMed ID: 10435639
[TBL] [Abstract][Full Text] [Related]
12. 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.
Millat G; Baïlo N; Molinero S; Rodriguez C; Chikh K; Vanier MT
Mol Genet Metab; 2005; 86(1-2):220-32. PubMed ID: 16126423
[TBL] [Abstract][Full Text] [Related]
13. Determinants of NPC1 expression and action: key promoter regions, posttranscriptional control, and the importance of a "cysteine-rich" loop.
Watari H; Blanchette-Mackie EJ; Dwyer NK; Watari M; Burd CG; Patel S; Pentchev PG; Strauss JF
Exp Cell Res; 2000 Aug; 259(1):247-56. PubMed ID: 10942596
[TBL] [Abstract][Full Text] [Related]
14. Acid sphingomyelinase: identification of nine novel mutations among Italian Niemann Pick type B patients and characterization of in vivo functional in-frame start codon.
Pittis MG; Ricci V; Guerci VI; Marçais C; Ciana G; Dardis A; Gerin F; Stroppiano M; Vanier MT; Filocamo M; Bembi B
Hum Mutat; 2004 Aug; 24(2):186-7. PubMed ID: 15241805
[TBL] [Abstract][Full Text] [Related]
15. Molecular analysis of 30 Niemann-Pick type C patients from Spain.
Macías-Vidal J; Rodríguez-Pascau L; Sánchez-Ollé G; Lluch M; Vilageliu L; Grinberg D; Coll MJ;
Clin Genet; 2011 Jul; 80(1):39-49. PubMed ID: 20718790
[TBL] [Abstract][Full Text] [Related]
16. The genomic organization and polymorphism analysis of the human Niemann-Pick C1 gene.
Morris JA; Zhang D; Coleman KG; Nagle J; Pentchev PG; Carstea ED
Biochem Biophys Res Commun; 1999 Aug; 261(2):493-8. PubMed ID: 10425213
[TBL] [Abstract][Full Text] [Related]
17. Functional analysis of splicing mutations and of an exon 2 polymorphic variant of SERPING1/C1NH.
Duponchel C; Djenouhat K; Frémeaux-Bacchi V; Monnier N; Drouet C; Tosi M
Hum Mutat; 2006 Mar; 27(3):295-6. PubMed ID: 16470590
[TBL] [Abstract][Full Text] [Related]
18. The cytochrome P450 aromatase lacking exon 5 is associated with a phenotype of nonclassic aromatase deficiency and is also present in normal human steroidogenic tissues.
Pepe CM; Saraco NI; Baquedano MS; Guercio G; Vaiani E; Marino R; Pandey AV; Flück CE; Rivarola MA; Belgorosky A
Clin Endocrinol (Oxf); 2007 Nov; 67(5):698-705. PubMed ID: 17608756
[TBL] [Abstract][Full Text] [Related]
19. Two novel mutant alleles of the gene encoding neurotrophic tyrosine kinase receptor type 1 (NTRK1) in a patient with congenital insensitivity to pain with anhidrosis: a splice junction mutation in intron 5 and cluster of four mutations in exon 15.
Bodzioch M; Lapicka K; Aslanidis C; Kacinski M; Schmitz G
Hum Mutat; 2001; 17(1):72. PubMed ID: 11139246
[TBL] [Abstract][Full Text] [Related]
20. Niemann-Pick C disease: functional characterization of three NPC2 mutations and clinical and molecular update on patients with NPC2.
Verot L; Chikh K; Freydière E; Honoré R; Vanier MT; Millat G
Clin Genet; 2007 Apr; 71(4):320-30. PubMed ID: 17470133
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]