180 related articles for article (PubMed ID: 15774455)
1. Six novel NPC1 mutations in Chinese patients with Niemann-Pick disease type C.
Yang CC; Su YN; Chiou PC; Fietz MJ; Yu CL; Hwu WL; Lee MJ
J Neurol Neurosurg Psychiatry; 2005 Apr; 76(4):592-5. PubMed ID: 15774455
[TBL] [Abstract][Full Text] [Related]
2. Genotype/phenotype of 6 Chinese cases with Niemann-Pick disease type C.
Xiong H; Higaki K; Wei CJ; Bao XH; Zhang YH; Fu N; Qin J; Adachi K; Kumura Y; Ninomiya H; Nanba E; Wu XR
Gene; 2012 May; 498(2):332-5. PubMed ID: 22326530
[TBL] [Abstract][Full Text] [Related]
3. Niemann-Pick C variant detection by altered sphingolipid trafficking and correlation with mutations within a specific domain of NPC1.
Sun X; Marks DL; Park WD; Wheatley CL; Puri V; O'Brien JF; Kraft DL; Lundquist PA; Patterson MC; Pagano RE; Snow K
Am J Hum Genet; 2001 Jun; 68(6):1361-72. PubMed ID: 11349231
[TBL] [Abstract][Full Text] [Related]
4. 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.
Millat G; Marçais C; Tomasetto C; Chikh K; Fensom AH; Harzer K; Wenger DA; Ohno K; Vanier MT
Am J Hum Genet; 2001 Jun; 68(6):1373-85. PubMed ID: 11333381
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
7. Localization of Niemann-Pick C1 protein in astrocytes: implications for neuronal degeneration in Niemann- Pick type C disease.
Patel SC; Suresh S; Kumar U; Hu CY; Cooney A; Blanchette-Mackie EJ; Neufeld EB; Patel RC; Brady RO; Patel YC; Pentchev PG; Ong WY
Proc Natl Acad Sci U S A; 1999 Feb; 96(4):1657-62. PubMed ID: 9990080
[TBL] [Abstract][Full Text] [Related]
8. Niemann-Pick type C disease: NPC1 mutations associated with severe and mild cellular cholesterol trafficking alterations.
Ribeiro I; Marcão A; Amaral O; Sá Miranda MC; Vanier MT; Millat G
Hum Genet; 2001 Jul; 109(1):24-32. PubMed ID: 11479732
[TBL] [Abstract][Full Text] [Related]
9. A novel mouse model of Niemann-Pick type C disease carrying a D1005G-Npc1 mutation comparable to commonly observed human mutations.
Maue RA; Burgess RW; Wang B; Wooley CM; Seburn KL; Vanier MT; Rogers MA; Chang CC; Chang TY; Harris BT; Graber DJ; Penatti CA; Porter DM; Szwergold BS; Henderson LP; Totenhagen JW; Trouard TP; Borbon IA; Erickson RP
Hum Mol Genet; 2012 Feb; 21(4):730-50. PubMed ID: 22048958
[TBL] [Abstract][Full Text] [Related]
10. Mutation analysis of feline Niemann-Pick C1 disease.
Somers KL; Royals MA; Carstea ED; Rafi MA; Wenger DA; Thrall MA
Mol Genet Metab; 2003 Jun; 79(2):99-103. PubMed ID: 12809639
[TBL] [Abstract][Full Text] [Related]
11. Genome sequencing in a case of Niemann-Pick type C.
Dougherty M; Lazar J; Klein JC; Diaz K; Gobillot T; Grunblatt E; Hasle N; Lawrence D; Maurano M; Nelson M; Olson G; Srivatsan S; Shendure J; Keene CD; Bird T; Horwitz MS; Marshall DA
Cold Spring Harb Mol Case Stud; 2016 Nov; 2(6):a001222. PubMed ID: 27900365
[TBL] [Abstract][Full Text] [Related]
12. Niemann-Pick C1 protein: obligatory roles for N-terminal domains and lysosomal targeting in cholesterol mobilization.
Watari H; Blanchette-Mackie EJ; Dwyer NK; Glick JM; Patel S; Neufeld EB; Brady RO; Pentchev PG; Strauss JF
Proc Natl Acad Sci U S A; 1999 Feb; 96(3):805-10. PubMed ID: 9927649
[TBL] [Abstract][Full Text] [Related]
13. NPC1: Complete genomic sequence, mutation analysis, and characterization of haplotypes.
Bauer P; Knoblich R; Bauer C; Finckh U; Hufen A; Kropp J; Braun S; Kustermann-Kuhn B; Schmidt D; Harzer K; Rolfs A
Hum Mutat; 2002 Jan; 19(1):30-8. PubMed ID: 11754101
[TBL] [Abstract][Full Text] [Related]
14. Molecular analysis of NPC1 and NPC2 gene in 34 Niemann-Pick C Italian patients: identification and structural modeling of novel mutations.
Fancello T; Dardis A; Rosano C; Tarugi P; Tappino B; Zampieri S; Pinotti E; Corsolini F; Fecarotta S; D'Amico A; Di Rocco M; Uziel G; Calandra S; Bembi B; Filocamo M
Neurogenetics; 2009 Jul; 10(3):229-39. PubMed ID: 19252935
[TBL] [Abstract][Full Text] [Related]
15. Niemann-Pick disease type C.
Vanier MT; Millat G
Clin Genet; 2003 Oct; 64(4):269-81. PubMed ID: 12974729
[TBL] [Abstract][Full Text] [Related]
16. [Niemann-Pick disease type C--a neurometabolic disease through disturbed intracellular lipid transport].
Grau AJ; Weisbrod M; Hund E; Harzer K
Nervenarzt; 2003 Oct; 74(10):900-5. PubMed ID: 14551697
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. The proteasome inhibitor bortezomib reduced cholesterol accumulation in fibroblasts from Niemann-Pick type C patients carrying missense mutations.
Macías-Vidal J; Girós M; Guerrero M; Gascón P; Serratosa J; Bachs O; Coll MJ
FEBS J; 2014 Oct; 281(19):4450-66. PubMed ID: 25131710
[TBL] [Abstract][Full Text] [Related]
19. 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.
Millat G; Marçais C; Rafi MA; Yamamoto T; Morris JA; Pentchev PG; Ohno K; Wenger DA; Vanier MT
Am J Hum Genet; 1999 Nov; 65(5):1321-9. PubMed ID: 10521297
[TBL] [Abstract][Full Text] [Related]
20. Clinical-biochemical correlation in molecularly characterized patients with Niemann-Pick type C.
Meiner V; Shpitzen S; Mandel H; Klar A; Ben-Neriah Z; Zlotogora J; Sagi M; Lossos A; Bargal R; Sury V; Carmi R; Leitersdorf E; Zeigler M
Genet Med; 2001; 3(5):343-8. PubMed ID: 11545687
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]