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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. Rodriguez-Gil JL, et al. Among authors: porter fd. Dis Model Mech. 2020 Mar 13;13(3):dmm042614. doi: 10.1242/dmm.042614. Dis Model Mech. 2020. PMID: 31996359 Free PMC article.
Linear clinical progression, independent of age of onset, in Niemann-Pick disease, type C.
Yanjanin NM, Vélez JI, Gropman A, King K, Bianconi SE, Conley SK, Brewer CC, Solomon B, Pavan WJ, Arcos-Burgos M, Patterson MC, Porter FD. Yanjanin NM, et al. Among authors: porter fd. Am J Med Genet B Neuropsychiatr Genet. 2010 Jan 5;153B(1):132-40. doi: 10.1002/ajmg.b.30969. Am J Med Genet B Neuropsychiatr Genet. 2010. PMID: 19415691 Free PMC article.
Oxidative stress in Niemann-Pick disease, type C.
Fu R, Yanjanin NM, Bianconi S, Pavan WJ, Porter FD. Fu R, et al. Among authors: porter fd. Mol Genet Metab. 2010 Oct-Nov;101(2-3):214-8. doi: 10.1016/j.ymgme.2010.06.018. Epub 2010 Jul 27. Mol Genet Metab. 2010. PMID: 20667755 Free PMC article.
Invariant natural killer T cells are not affected by lysosomal storage in patients with Niemann-Pick disease type C.
Speak AO, Platt N, Salio M, te Vruchte D, Smith DA, Shepherd D, Veerapen N, Besra GS, Yanjanin NM, Simmons L, Imrie J, Wraith JE, Lachmann RH, Hartung R, Runz H, Mengel E, Beck M, Hendriksz CJ, Porter FD, Cerundolo V, Platt FM. Speak AO, et al. Among authors: porter fd. Eur J Immunol. 2012 Jul;42(7):1886-92. doi: 10.1002/eji.201141821. Epub 2012 Jun 14. Eur J Immunol. 2012. PMID: 22585405 Free PMC article.
δ-Tocopherol reduces lipid accumulation in Niemann-Pick type C1 and Wolman cholesterol storage disorders.
Xu M, Liu K, Swaroop M, Porter FD, Sidhu R, Firnkes S, Ory DS, Marugan JJ, Xiao J, Southall N, Pavan WJ, Davidson C, Walkley SU, Remaley AT, Baxa U, Sun W, McKew JC, Austin CP, Zheng W. Xu M, et al. Among authors: porter fd. J Biol Chem. 2012 Nov 16;287(47):39349-60. doi: 10.1074/jbc.M112.357707. Epub 2012 Oct 3. J Biol Chem. 2012. PMID: 23035117 Free PMC article.
211 results