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A novel, highly sensitive and specific biomarker for Niemann-Pick type C1 disease.
Giese AK, Mascher H, Grittner U, Eichler S, Kramp G, Lukas J, te Vruchte D, Al Eisa N, Cortina-Borja M, Porter FD, Platt FM, Rolfs A. Giese AK, et al. Among authors: porter fd. Orphanet J Rare Dis. 2015 Jun 17;10:78. doi: 10.1186/s13023-015-0274-1. Orphanet J Rare Dis. 2015. PMID: 26082315 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.
Human and mouse neuroinflammation markers in Niemann-Pick disease, type C1.
Cologna SM, Cluzeau CV, Yanjanin NM, Blank PS, Dail MK, Siebel S, Toth CL, Wassif CA, Lieberman AP, Porter FD. Cologna SM, et al. Among authors: porter fd. J Inherit Metab Dis. 2014 Jan;37(1):83-92. doi: 10.1007/s10545-013-9610-6. Epub 2013 May 8. J Inherit Metab Dis. 2014. PMID: 23653225 Free PMC article.
211 results