635 related articles for article (PubMed ID: 32204338)
1. Different Trafficking Phenotypes of Niemann-Pick C1 Gene Mutations Correlate with Various Alterations in Lipid Storage, Membrane Composition and Miglustat Amenability.
Brogden G; Shammas H; Walters F; Maalouf K; Das AM; Naim HY; Rizk S
Int J Mol Sci; 2020 Mar; 21(6):. PubMed ID: 32204338
[TBL] [Abstract][Full Text] [Related]
2. Targeting defective sphingosine kinase 1 in Niemann-Pick type C disease with an activator mitigates cholesterol accumulation.
Newton J; Palladino END; Weigel C; Maceyka M; Gräler MH; Senkal CE; Enriz RD; Marvanova P; Jampilek J; Lima S; Milstien S; Spiegel S
J Biol Chem; 2020 Jul; 295(27):9121-9133. PubMed ID: 32385114
[TBL] [Abstract][Full Text] [Related]
3. Anaplasma phagocytophilum Hijacks Flotillin and NPC1 Complex To Acquire Intracellular Cholesterol for Proliferation, Which Can Be Inhibited with Ezetimibe.
Huang W; Xiong Q; Lin M; Rikihisa Y
mBio; 2021 Oct; 12(5):e0229921. PubMed ID: 34544283
[TBL] [Abstract][Full Text] [Related]
4. Patient-Specific iPSC-Derived Neural Differentiated and Hepatocyte-like Cells, Carrying the Compound Heterozygous Mutation p.V1023Sfs*15/p.G992R, Present the "Variant" Biochemical Phenotype of Niemann-Pick Type C1 Disease.
Völkner C; Liedtke M; Untucht R; Hermann A; Frech MJ
Int J Mol Sci; 2021 Nov; 22(22):. PubMed ID: 34830064
[TBL] [Abstract][Full Text] [Related]
5. Differential Effects of 2-Hydroxypropyl-Cyclodextrins on Lipid Accumulation in
Hoque S; Kondo Y; Sakata N; Yamada Y; Fukaura M; Higashi T; Motoyama K; Arima H; Higaki K; Hayashi A; Komiya T; Ishitsuka Y; Irie T
Int J Mol Sci; 2020 Jan; 21(3):. PubMed ID: 32019132
[TBL] [Abstract][Full Text] [Related]
6. FTY720/fingolimod increases NPC1 and NPC2 expression and reduces cholesterol and sphingolipid accumulation in Niemann-Pick type C mutant fibroblasts.
Newton J; Hait NC; Maceyka M; Colaco A; Maczis M; Wassif CA; Cougnoux A; Porter FD; Milstien S; Platt N; Platt FM; Spiegel S
FASEB J; 2017 Apr; 31(4):1719-1730. PubMed ID: 28082351
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. Niemann-Pick type C disease: The atypical sphingolipidosis.
Newton J; Milstien S; Spiegel S
Adv Biol Regul; 2018 Dec; 70():82-88. PubMed ID: 30205942
[TBL] [Abstract][Full Text] [Related]
9. Histone deacetylase inhibitors correct the cholesterol storage defect in most Niemann-Pick C1 mutant cells.
Pipalia NH; Subramanian K; Mao S; Ralph H; Hutt DM; Scott SM; Balch WE; Maxfield FR
J Lipid Res; 2017 Apr; 58(4):695-708. PubMed ID: 28193631
[TBL] [Abstract][Full Text] [Related]
10. Beneficial effects of primidone in Niemann-Pick disease type C (NPC)-model cells and mice: Reduction of unesterified cholesterol levels in cells and extension of lifespan in mice.
Ashikawa H; Mogi H; Honda T; Nakamura H; Murayama T
Eur J Pharmacol; 2021 Apr; 896():173907. PubMed ID: 33503462
[TBL] [Abstract][Full Text] [Related]
11. Reduction of TMEM97 increases NPC1 protein levels and restores cholesterol trafficking in Niemann-pick type C1 disease cells.
Ebrahimi-Fakhari D; Wahlster L; Bartz F; Werenbeck-Ueding J; Praggastis M; Zhang J; Joggerst-Thomalla B; Theiss S; Grimm D; Ory DS; Runz H
Hum Mol Genet; 2016 Aug; 25(16):3588-3599. PubMed ID: 27378690
[TBL] [Abstract][Full Text] [Related]
12. Molecular dynamics study with mutation shows that N-terminal domain structural re-orientation in Niemann-Pick type C1 is required for proper alignment of cholesterol transport.
Yoon HJ; Jeong H; Lee HH; Jang S
J Neurochem; 2021 Mar; 156(6):967-978. PubMed ID: 32880929
[TBL] [Abstract][Full Text] [Related]
13. HSP90 inhibitors reduce cholesterol storage in Niemann-Pick type C1 mutant fibroblasts.
Pipalia NH; Saad SZ; Subramanian K; Cross A; Al-Motawa A; Garg K; Blagg BSJ; Neckers L; Helquist P; Wiest O; Ory DS; Maxfield FR
J Lipid Res; 2021; 62():100114. PubMed ID: 34481829
[TBL] [Abstract][Full Text] [Related]
14. Autophagy in Niemann-Pick C disease is dependent upon Beclin-1 and responsive to lipid trafficking defects.
Pacheco CD; Kunkel R; Lieberman AP
Hum Mol Genet; 2007 Jun; 16(12):1495-503. PubMed ID: 17468177
[TBL] [Abstract][Full Text] [Related]
15. [Niemann-Pick type C disease and psychosis: Two siblings].
Maubert A; Hanon C; Metton JP
Encephale; 2015 Jun; 41(3):238-43. PubMed ID: 25238906
[TBL] [Abstract][Full Text] [Related]
16. Assessment of FDA-Approved Drugs as a Therapeutic Approach for Niemann-Pick Disease Type C1 Using Patient-Specific iPSC-Based Model Systems.
Völkner C; Pantoom S; Liedtke M; Lukas J; Hermann A; Frech MJ
Cells; 2022 Jan; 11(3):. PubMed ID: 35159129
[TBL] [Abstract][Full Text] [Related]
17. Identification of Brain-Specific Treatment Effects in NPC1 Disease by Focusing on Cellular and Molecular Changes of Sphingosine-1-Phosphate Metabolism.
Gläser A; Hammerl F; Gräler MH; Coldewey SM; Völkner C; Frech MJ; Yang F; Luo J; Tönnies E; von Bohlen Und Halbach O; Brandt N; Heimes D; Neßlauer AM; Korenke GC; Owczarek-Lipska M; Neidhardt J; Rolfs A; Wree A; Witt M; Bräuer AU
Int J Mol Sci; 2020 Jun; 21(12):. PubMed ID: 32599915
[TBL] [Abstract][Full Text] [Related]
18. Possible genotype-phenotype correlations in Niemann-Pick type C patients and miglustat treatment.
Çakar NE; Önal H
Ideggyogy Sz; 2021 Mar; 74(3-4):139-144. PubMed ID: 33938663
[TBL] [Abstract][Full Text] [Related]
19. Enrichment of NPC1-deficient cells with the lipid LBPA stimulates autophagy, improves lysosomal function, and reduces cholesterol storage.
Ilnytska O; Lai K; Gorshkov K; Schultz ML; Tran BN; Jeziorek M; Kunkel TJ; Azaria RD; McLoughlin HS; Waghalter M; Xu Y; Schlame M; Altan-Bonnet N; Zheng W; Lieberman AP; Dobrowolski R; Storch J
J Biol Chem; 2021 Jul; 297(1):100813. PubMed ID: 34023384
[TBL] [Abstract][Full Text] [Related]
20. Impact of miglustat on evolution of atypical presentation of late-infantile-onset Niemann-Pick disease type C with early cognitive impairment, behavioral dysfunction, epilepsy, ophthalmoplegia, and cerebellar involvement: a case report.
Cuisset JM; Sukno S; Trauffler A; Latour P; Dobbelaere D; Michaud L; Vallée L
J Med Case Rep; 2016 Sep; 10(1):241. PubMed ID: 27599728
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
