BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

194 related articles for article (PubMed ID: 38033125)

  • 1. Trehalose enhances mitochondria deficits in human NPC1 mutant fibroblasts but disrupts mouse Purkinje cell dendritic growth ex vivo.
    MacLeod CM; Yousufzai FAK; Spencer LT; Kim S; Rivera-Rosario LA; Barrera ZD; Walsh L; Krummenacher C; Carone B; Soto I
    PLoS One; 2023; 18(11):e0294312. PubMed ID: 38033125
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Disruptive lysosomal-metabolic signaling and neurodevelopmental deficits that precede Purkinje cell loss in a mouse model of Niemann-Pick Type-C disease.
    Kim S; Ochoa K; Melli SE; Yousufzai FAK; Barrera ZD; Williams AA; McIntyre G; Delgado E; Bolish JN; Macleod CM; Boghos M; Lens HP; Ramos AG; Wilson VB; Maloney K; Padron ZM; Khan AH; Blanco RE; Soto I
    Sci Rep; 2023 Apr; 13(1):5665. PubMed ID: 37024714
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Genistein Activates Transcription Factor EB and Corrects Niemann-Pick C Phenotype.
    Argüello G; Balboa E; Tapia PJ; Castro J; Yañez MJ; Mattar P; Pulgar R; Zanlungo S
    Int J Mol Sci; 2021 Apr; 22(8):. PubMed ID: 33921734
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. Mitochondrial GSH replenishment as a potential therapeutic approach for Niemann Pick type C disease.
    Torres S; Matías N; Baulies A; Nuñez S; Alarcon-Vila C; Martinez L; Nuño N; Fernandez A; Caballeria J; Levade T; Gonzalez-Franquesa A; Garcia-Rovés P; Balboa E; Zanlungo S; Fabrías G; Casas J; Enrich C; Garcia-Ruiz C; Fernández-Checa JC
    Redox Biol; 2017 Apr; 11():60-72. PubMed ID: 27888692
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. NPC1-mTORC1 Signaling Couples Cholesterol Sensing to Organelle Homeostasis and Is a Targetable Pathway in Niemann-Pick Type C.
    Davis OB; Shin HR; Lim CY; Wu EY; Kukurugya M; Maher CF; Perera RM; Ordonez MP; Zoncu R
    Dev Cell; 2021 Feb; 56(3):260-276.e7. PubMed ID: 33308480
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. Genetic and pharmacological evidence implicates cathepsins in Niemann-Pick C cerebellar degeneration.
    Chung C; Puthanveetil P; Ory DS; Lieberman AP
    Hum Mol Genet; 2016 Apr; 25(7):1434-46. PubMed ID: 26908626
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 2-Hydroxypropyl-gamma-cyclodextrin overcomes NPC1 deficiency by enhancing lysosome-ER association and autophagy.
    Singhal A; Krystofiak ES; Jerome WG; Song B
    Sci Rep; 2020 May; 10(1):8663. PubMed ID: 32457374
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Niemann-Pick disease type C1 is a sphingosine storage disease that causes deregulation of lysosomal calcium.
    Lloyd-Evans E; Morgan AJ; He X; Smith DA; Elliot-Smith E; Sillence DJ; Churchill GC; Schuchman EH; Galione A; Platt FM
    Nat Med; 2008 Nov; 14(11):1247-55. PubMed ID: 18953351
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. Evaluation of the Potential Role of Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9) in Niemann-Pick Disease, Type C1.
    Cawley NX; Lyons AT; Abebe D; Wassif CA; Porter FD
    Int J Mol Sci; 2020 Mar; 21(7):. PubMed ID: 32244519
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. 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]  

  • 16. Presenilin Deficiency Results in Cellular Cholesterol Accumulation by Impairment of Protein Glycosylation and NPC1 Function.
    Fabiano M; Oikawa N; Kerksiek A; Furukawa JI; Yagi H; Kato K; Schweizer U; Annaert W; Kang J; Shen J; Lütjohann D; Walter J
    Int J Mol Sci; 2024 May; 25(10):. PubMed ID: 38791456
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Cholesterol accumulation is associated with lysosomal dysfunction and autophagic stress in Npc1 -/- mouse brain.
    Liao G; Yao Y; Liu J; Yu Z; Cheung S; Xie A; Liang X; Bi X
    Am J Pathol; 2007 Sep; 171(3):962-75. PubMed ID: 17631520
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. High-content screen for modifiers of Niemann-Pick type C disease in patient cells.
    Pugach EK; Feltes M; Kaufman RJ; Ory DS; Bang AG
    Hum Mol Genet; 2018 Jun; 27(12):2101-2112. PubMed ID: 29659804
    [TBL] [Abstract][Full Text] [Related]  

  • 20. ABCA1-dependent mobilization of lysosomal cholesterol requires functional Niemann-Pick C2 but not Niemann-Pick C1 protein.
    Boadu E; Nelson RC; Francis GA
    Biochim Biophys Acta; 2012 Mar; 1821(3):396-404. PubMed ID: 22179027
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.