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211 results

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Intracellular sphingosine releases calcium from lysosomes.
Höglinger D, Haberkant P, Aguilera-Romero A, Riezman H, Porter FD, Platt FM, Galione A, Schultz C. Höglinger D, et al. Among authors: porter fd. Elife. 2015 Nov 27;4:e10616. doi: 10.7554/eLife.10616. Elife. 2015. PMID: 26613410 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.
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. Speak AO, et al. Among authors: porter fd. Blood. 2014 Jan 2;123(1):51-60. doi: 10.1182/blood-2013-03-488692. Epub 2013 Nov 14. Blood. 2014. PMID: 24235134 Free PMC article.
High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets.
Wassif CA, Cross JL, Iben J, Sanchez-Pulido L, Cougnoux A, Platt FM, Ory DS, Ponting CP, Bailey-Wilson JE, Biesecker LG, Porter FD. Wassif CA, et al. Among authors: porter fd. Genet Med. 2016 Jan;18(1):41-8. doi: 10.1038/gim.2015.25. Epub 2015 Mar 12. Genet Med. 2016. PMID: 25764212 Free PMC article.
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.
Defective Cytochrome P450-Catalysed Drug Metabolism in Niemann-Pick Type C Disease.
Nicoli ER, Al Eisa N, Cluzeau CV, Wassif CA, Gray J, Burkert KR, Smith DA, Morris L, Cologna SM, Peer CJ, Sissung TM, Uscatu CD, Figg WD, Pavan WJ, Vite CH, Porter FD, Platt FM. Nicoli ER, et al. Among authors: porter fd. PLoS One. 2016 Mar 28;11(3):e0152007. doi: 10.1371/journal.pone.0152007. eCollection 2016. PLoS One. 2016. PMID: 27019000 Free PMC article.
211 results