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202 related items for PubMed ID: 26942423
1. 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; 13(3):614-22. PubMed ID: 26942423 [Abstract] [Full Text] [Related]
2. Haploinsufficiency of tau decreases survival of the mouse model of Niemann-Pick disease type C1 but does not alter tau phosphorylation. Smith AF, Vanderah TW, Erickson RP. J Appl Genet; 2020 Dec; 61(4):567-570. PubMed ID: 32794098 [Abstract] [Full Text] [Related]
3. 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]
5. Altered distribution and function of natural killer cells in murine and human Niemann-Pick disease type C1. Speak AO, Te Vruchte D, Davis LC, Morgan AJ, Smith DA, Yanjanin NM, Simmons L, Hartung R, Runz H, Mengel E, Beck M, Imrie J, Jacklin E, Wraith JE, Hendriksz C, Lachmann R, Cognet C, Sidhu R, Fujiwara H, Ory DS, Galione A, Porter FD, Vivier E, Platt FM. Blood; 2014 Jan 02; 123(1):51-60. PubMed ID: 24235134 [Abstract] [Full Text] [Related]
6. A murine Niemann-Pick C1 I1061T knock-in model recapitulates the pathological features of the most prevalent human disease allele. Praggastis M, Tortelli B, Zhang J, Fujiwara H, Sidhu R, Chacko A, Chen Z, Chung C, Lieberman AP, Sikora J, Davidson C, Walkley SU, Pipalia NH, Maxfield FR, Schaffer JE, Ory DS. J Neurosci; 2015 May 27; 35(21):8091-106. PubMed ID: 26019327 [Abstract] [Full Text] [Related]
7. 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]
11. 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]
12. Quantitative, Label-Free Proteomics in the Symptomatic Niemann-Pick, Type C1 Mouse Model Using Standard Flow Liquid Chromatography and Thermal Focusing Electrospray Ionization. Pergande MR, Nguyen TTA, Haney-Ball C, Davidson CD, Cologna SM. Proteomics; 2019 May 13; 19(9):e1800432. PubMed ID: 30888112 [Abstract] [Full Text] [Related]
17. AAV9 intracerebroventricular gene therapy improves lifespan, locomotor function and pathology in a mouse model of Niemann-Pick type C1 disease. Hughes MP, Smith DA, Morris L, Fletcher C, Colaco A, Huebecker M, Tordo J, Palomar N, Massaro G, Henckaerts E, Waddington SN, Platt FM, Rahim AA. Hum Mol Genet; 2018 Sep 01; 27(17):3079-3098. PubMed ID: 29878115 [Abstract] [Full Text] [Related]