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334 related items for PubMed ID: 34802899

  • 1. Reduction of glutamate neurotoxicity: A novel therapeutic approach for Niemann-Pick disease, type C1.
    Cougnoux A, Yerger JC, Fellmeth M, Serra-Vinardell J, Navid F, Wassif CA, Cawley NX, Porter FD.
    Mol Genet Metab; 2021 Dec; 134(4):330-336. PubMed ID: 34802899
    [Abstract] [Full Text] [Related]

  • 2. Developmental delay in motor skill acquisition in Niemann-Pick C1 mice reveals abnormal cerebellar morphogenesis.
    Caporali P, Bruno F, Palladino G, Dragotto J, Petrosini L, Mangia F, Erickson RP, Canterini S, Fiorenza MT.
    Acta Neuropathol Commun; 2016 Sep 01; 4(1):94. PubMed ID: 27586038
    [Abstract] [Full Text] [Related]

  • 3. Single Cell Transcriptome Analysis of Niemann-Pick Disease, Type C1 Cerebella.
    Cougnoux A, Yerger JC, Fellmeth M, Serra-Vinardell J, Martin K, Navid F, Iben J, Wassif CA, Cawley NX, Porter FD.
    Int J Mol Sci; 2020 Jul 28; 21(15):. PubMed ID: 32731618
    [Abstract] [Full Text] [Related]

  • 4. 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 16; 96(4):1657-62. PubMed ID: 9990080
    [Abstract] [Full Text] [Related]

  • 5. 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 05; 896():173907. PubMed ID: 33503462
    [Abstract] [Full Text] [Related]

  • 6. Necroptosis inhibition as a therapy for Niemann-Pick disease, type C1: Inhibition of RIP kinases and combination therapy with 2-hydroxypropyl-β-cyclodextrin.
    Cougnoux A, Clifford S, Salman A, Ng SL, Bertin J, Porter FD.
    Mol Genet Metab; 2018 Dec 05; 125(4):345-350. PubMed ID: 30392741
    [Abstract] [Full Text] [Related]

  • 7. Neurological Dysfunction in Early Maturity of a Model for Niemann-Pick C1 Carrier Status.
    Hung YH, Walterfang M, Churilov L, Bray L, Jacobson LH, Barnham KJ, Jones NC, O'Brien TJ, Velakoulis D, Bush AI.
    Neurotherapeutics; 2016 Jul 05; 13(3):614-22. PubMed ID: 26942423
    [Abstract] [Full Text] [Related]

  • 8. 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 31; 21(7):. PubMed ID: 32244519
    [Abstract] [Full Text] [Related]

  • 9. Impaired Retromer Function in Niemann-Pick Type C Disease Is Dependent on Intracellular Cholesterol Accumulation.
    Dominko K, Rastija A, Sobocanec S, Vidatic L, Meglaj S, Lovincic Babic A, Hutter-Paier B, Colombo AV, Lichtenthaler SF, Tahirovic S, Hecimovic S.
    Int J Mol Sci; 2021 Dec 09; 22(24):. PubMed ID: 34948052
    [Abstract] [Full Text] [Related]

  • 10. Anatomically defined neuron-based rescue of neurodegenerative Niemann-Pick type C disorder.
    Lopez ME, Klein AD, Dimbil UJ, Scott MP.
    J Neurosci; 2011 Mar 23; 31(12):4367-78. PubMed ID: 21430138
    [Abstract] [Full Text] [Related]

  • 11. A human iPSC-derived inducible neuronal model of Niemann-Pick disease, type C1.
    Prabhu AV, Kang I, De Pace R, Wassif CA, Fujiwara H, Kell P, Jiang X, Ory DS, Bonifacino JS, Ward ME, Porter FD.
    BMC Biol; 2021 Oct 01; 19(1):218. PubMed ID: 34592985
    [Abstract] [Full Text] [Related]

  • 12. Modeling Niemann-Pick disease type C1 in zebrafish: a robust platform for in vivo screening of candidate therapeutic compounds.
    Tseng WC, Loeb HE, Pei W, Tsai-Morris CH, Xu L, Cluzeau CV, Wassif CA, Feldman B, Burgess SM, Pavan WJ, Porter FD.
    Dis Model Mech; 2018 Aug 15; 11(9):. PubMed ID: 30135069
    [Abstract] [Full Text] [Related]

  • 13. Genetic background modifies phenotypic severity and longevity in a mouse model of Niemann-Pick disease type C1.
    Rodriguez-Gil JL, Watkins-Chow DE, Baxter LL, Elliot G, Harper UL, Wincovitch SM, Wedel JC, Incao AA, Huebecker M, Boehm FJ, Garver WS, Porter FD, Broman KW, Platt FM, Pavan WJ.
    Dis Model Mech; 2020 Mar 13; 13(3):. PubMed ID: 31996359
    [Abstract] [Full Text] [Related]

  • 14. LC3 Immunostaining in the Inferior Olivary Nuclei of Cats With Niemann-Pick Disease Type C1 Is Associated With Patterned Purkinje Cell Loss.
    Gurda BL, Bagel JH, Fisher SJ, Schultz ML, Lieberman AP, Hand P, Vite CH, Swain GP.
    J Neuropathol Exp Neurol; 2018 Mar 01; 77(3):229-245. PubMed ID: 29346563
    [Abstract] [Full Text] [Related]

  • 15. Identification of Novel Pathways Associated with Patterned Cerebellar Purkinje Neuron Degeneration in Niemann-Pick Disease, Type C1.
    Martin KB, Williams IM, Cluzeau CV, Cougnoux A, Dale RK, Iben JR, Cawley NX, Wassif CA, Porter FD.
    Int J Mol Sci; 2019 Dec 31; 21(1):. PubMed ID: 31906248
    [Abstract] [Full Text] [Related]

  • 16. 2-Hydroxypropyl-β-cyclodextrin is the active component in a triple combination formulation for treatment of Niemann-Pick C1 disease.
    Davidson J, Molitor E, Moores S, Gale SE, Subramanian K, Jiang X, Sidhu R, Kell P, Zhang J, Fujiwara H, Davidson C, Helquist P, Melancon BJ, Grigalunas M, Liu G, Salahi F, Wiest O, Xu X, Porter FD, Pipalia NH, Cruz DL, Holson EB, Schaffer JE, Walkley SU, Maxfield FR, Ory DS.
    Biochim Biophys Acta Mol Cell Biol Lipids; 2019 Oct 31; 1864(10):1545-1561. PubMed ID: 31051283
    [Abstract] [Full Text] [Related]

  • 17. Generation and function of astroglial lipoproteins from Niemann-Pick type C1-deficient mice.
    Karten B, Hayashi H, Francis GA, Campenot RB, Vance DE, Vance JE.
    Biochem J; 2005 May 01; 387(Pt 3):779-88. PubMed ID: 15544574
    [Abstract] [Full Text] [Related]

  • 18. In Niemann-Pick C1 mouse models, glial-only expression of the normal gene extends survival much further than do changes in genetic background or treatment with hydroxypropyl-beta-cyclodextrin.
    Marshall CA, Watkins-Chow DE, Palladino G, Deutsch G, Chandran K, Pavan WJ, Erickson RP.
    Gene; 2018 Feb 15; 643():117-123. PubMed ID: 29223359
    [Abstract] [Full Text] [Related]

  • 19. Gene Therapy in a Mouse Model of Niemann-Pick Disease Type C1.
    Kurokawa Y, Osaka H, Kouga T, Jimbo E, Muramatsu K, Nakamura S, Takayanagi Y, Onaka T, Muramatsu SI, Yamagata T.
    Hum Gene Ther; 2021 Jun 15; 32(11-12):589-598. PubMed ID: 33256498
    [Abstract] [Full Text] [Related]

  • 20. Intrathecal 2-hydroxypropyl-β-cyclodextrin decreases neurological disease progression in Niemann-Pick disease, type C1: a non-randomised, open-label, phase 1-2 trial.
    Ory DS, Ottinger EA, Farhat NY, King KA, Jiang X, Weissfeld L, Berry-Kravis E, Davidson CD, Bianconi S, Keener LA, Rao R, Soldatos A, Sidhu R, Walters KA, Xu X, Thurm A, Solomon B, Pavan WJ, Machielse BN, Kao M, Silber SA, McKew JC, Brewer CC, Vite CH, Walkley SU, Austin CP, Porter FD.
    Lancet; 2017 Oct 14; 390(10104):1758-1768. PubMed ID: 28803710
    [Abstract] [Full Text] [Related]

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