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36 results
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Lipids on trial: the search for the offending metabolite in Niemann-Pick type C disease.
Lloyd-Evans E, Platt FM. Lloyd-Evans E, et al. Traffic. 2010 Apr;11(4):419-28. doi: 10.1111/j.1600-0854.2010.01032.x. Epub 2010 Jan 6. Traffic. 2010. PMID: 20059748 Review.
The lysosomal storage disease continuum with ageing-related neurodegenerative disease.
Lloyd-Evans E, Haslett LJ. Lloyd-Evans E, et al. Ageing Res Rev. 2016 Dec;32:104-121. doi: 10.1016/j.arr.2016.07.005. Epub 2016 Aug 8. Ageing Res Rev. 2016. PMID: 27516378 Review.
Purified TPC isoforms form NAADP receptors with distinct roles for Ca(2+) signaling and endolysosomal trafficking.
Ruas M, Rietdorf K, Arredouani A, Davis LC, Lloyd-Evans E, Koegel H, Funnell TM, Morgan AJ, Ward JA, Watanabe K, Cheng X, Churchill GC, Zhu MX, Platt FM, Wessel GM, Parrington J, Galione A. Ruas M, et al. Curr Biol. 2010 Apr 27;20(8):703-9. doi: 10.1016/j.cub.2010.02.049. Epub 2010 Mar 25. Curr Biol. 2010. PMID: 20346675 Free PMC article.
Beneficial effects of substrate reduction therapy in a mouse model of GM1 gangliosidosis.
Elliot-Smith E, Speak AO, Lloyd-Evans E, Smith DA, van der Spoel AC, Jeyakumar M, Butters TD, Dwek RA, d'Azzo A, Platt FM. Elliot-Smith E, et al. Mol Genet Metab. 2008 Jun;94(2):204-11. doi: 10.1016/j.ymgme.2008.02.005. Epub 2008 Apr 1. Mol Genet Metab. 2008. PMID: 18387328
Niemann-Pick disease type C1 is a sphingosine storage disease that causes deregulation of lysosomal calcium.
Lloyd-Evans E, Morgan AJ, He X, Smith DA, Elliot-Smith E, Sillence DJ, Churchill GC, Schuchman EH, Galione A, Platt FM. Lloyd-Evans E, et al. Nat Med. 2008 Nov;14(11):1247-55. doi: 10.1038/nm.1876. Epub 2008 Oct 26. Nat Med. 2008. PMID: 18953351
Disorders of cholesterol metabolism and their unanticipated convergent mechanisms of disease.
Platt FM, Wassif C, Colaco A, Dardis A, Lloyd-Evans E, Bembi B, Porter FD. Platt FM, et al. Annu Rev Genomics Hum Genet. 2014;15:173-94. doi: 10.1146/annurev-genom-091212-153412. Annu Rev Genomics Hum Genet. 2014. PMID: 25184529 Free PMC article.
Pathogenic mycobacteria achieve cellular persistence by inhibiting the Niemann-Pick Type C disease cellular pathway.
Fineran P, Lloyd-Evans E, Lack NA, Platt N, Davis LC, Morgan AJ, Höglinger D, Tatituri RVV, Clark S, Williams IM, Tynan P, Al Eisa N, Nazarova E, Williams A, Galione A, Ory DS, Besra GS, Russell DG, Brenner MB, Sim E, Platt FM. Fineran P, et al. Wellcome Open Res. 2016 Nov 18;1:18. doi: 10.12688/wellcomeopenres.10036.2. Wellcome Open Res. 2016. PMID: 28008422 Free PMC article.
Endolysosomal calcium regulation and disease.
Lloyd-Evans E, Waller-Evans H, Peterneva K, Platt FM. Lloyd-Evans E, et al. Biochem Soc Trans. 2010 Dec;38(6):1458-64. doi: 10.1042/BST0381458. Biochem Soc Trans. 2010. PMID: 21118107 Review.
Accumulation of glycosphingolipids in Niemann-Pick C disease disrupts endosomal transport.
te Vruchte D, Lloyd-Evans E, Veldman RJ, Neville DC, Dwek RA, Platt FM, van Blitterswijk WJ, Sillence DJ. te Vruchte D, et al. J Biol Chem. 2004 Jun 18;279(25):26167-75. doi: 10.1074/jbc.M311591200. Epub 2004 Apr 12. J Biol Chem. 2004. PMID: 15078881
Treatment with miglustat reverses the lipid-trafficking defect in Niemann-Pick disease type C.
Lachmann RH, te Vruchte D, Lloyd-Evans E, Reinkensmeier G, Sillence DJ, Fernandez-Guillen L, Dwek RA, Butters TD, Cox TM, Platt FM. Lachmann RH, et al. Neurobiol Dis. 2004 Aug;16(3):654-8. doi: 10.1016/j.nbd.2004.05.002. Neurobiol Dis. 2004. PMID: 15262277
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