This document provides summaries of 16 research articles related to Niemann-Pick disease type C1 (NPC1). The articles investigate potential biomarkers for early diagnosis of NPC1, examine the urinary excretion and metabolism of drugs used to treat NPC1, identify new potential biomarkers through metabolic profiling, and study the effects of glycosphingolipid storage and treatment on various cells and pathways involved in NPC1 pathogenesis.

1. 1. Identification of novel bile acids as biomarkers for the early diagnosis of Niemann-
Pick C disease.
Mazzacuva F, Mills P, Mills K, Camuzeaux S, Gissen P, Nicoli ER, Wassif C, Te
Vruchte D, Porter FD, Maekawa M, Mano N, Iida T, Platt F, Clayton PT.
FEBS Lett. 2016 May 3. doi: 10.1002/1873-3468.12196. [Epub ahead of print]
PMID:27139891
2. One- and two-dimensional NMR investigations of the urinary excretion and
metabolism of miglustat and valproate in patients with Niemann-Pick disease type
C1.
Grootveld M, Probert F, Ruiz-Rodado V, Zhang X, te Vruchte D, Platt FM, Claridge
TD, Zonato Tocchio A, Edgar M, Lachmann RH.
Feb 2016
3. Urinary excretion and metabolism of miglustat and valproate in patients with
Niemann-Pick type C1 disease: One- and two-dimensional solution-state (1)H NMR
studies.
Probert F, Ruiz-Rodado V, Zhang X, te Vruchte D, Claridge TD, Edgar M, Tocchio
AZ, Lachmann RH, Platt FM, Grootveld M.
J Pharm Biomed Anal. 2016 Jan 5;117:276-88. doi: 10.1016/j.jpba.2015.08.011. Epub
2015 Aug 13.
4. 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.
Orphanet J Rare Dis. 2015 Jun 17;10:78. doi: 10.1186/s13023-015-0274-1.
PMID: 26082315
5. Measuring relative lysosomal volume for monitoring lysosomal storage diseases.
te Vruchte D, Wallom KL, Platt FM.
Methods Cell Biol. 2015;126:331-47. doi: 10.1016/bs.mcb.2014.10.027. Epub 2015
Jan 14.
PMID: 25665453
6. Relative acidic compartment volume as a lysosomal storage disorder-associated
biomarker.
te Vruchte D, Speak AO, Wallom KL, Al Eisa N, Smith DA, Hendriksz CJ,
Simmons L, Lachmann RH, Cousins A, Hartung R, Mengel E, Runz H, Beck M,
Amraoui Y, Imrie J, Jacklin E, Riddick K, Yanjanin NM, Wassif CA, Rolfs A,
Rimmele F, Wright N, Taylor C, Ramaswami U, Cox TM, Hastings C, Jiang X, Sidhu
R, Ory DS, Arias B, Jeyakumar M, Sillence DJ, Wraith JE, Porter FD, Cortina-Borja
M, Platt FM.
J Clin Invest. 2014 Mar;124(3):1320-8.
PMID: 24487591
7. 1H NMR-Linked Urinary Metabolic Profiling of Niemann-Pick Class C1 (NPC1)
Disease: Identification of Potential New Biomarkers using Correlated Component
Regression (CCR) and Genetic Algorithm (GA) Analysis Strategies

2. Victor Ruiz-Rodado, Rafael Marcos Luque-Baena, Danielle te Vruchte, Fay Probert,
Robin H. Lachmann, Christopher J. Hendriksz, James E. Wraith, Jackie Imrie, David
Elizondo, Daniel Sillence, Peter Clayton, Frances M. Platt, Martin Grootveld
Current Metabolomics 2014, 2, 88-121.
8. 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 2;123(1):51-60. doi: 10.1182/blood-2013-03-488692. Epub 2013
Nov 14.
PMID: 24235134
9. 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.
Eur J Immunol. 2012 Jul;42(7):1886-92. doi: 10.1002/eji.201141821. Epub 2012 Jun
14.
PMID: 22585405
10. A sensitive and specific LC-MS/MS method for rapid diagnosis of Niemann-Pick
C1 disease from human plasma.
Jiang X, Sidhu R, Porter FD, Yanjanin NM, Speak AO, te Vruchte DT, Platt FM,
Fujiwara H, Scherrer DE, Zhang J, Dietzen DJ, Schaffer JE, Ory DS.
J Lipid Res. 2011 Jul;52(7):1435-45. doi: 10.1194/jlr.D015735. Epub 2011 Apr 24.
PMID: 21518695
11. Glycosphingolipid storage leads to the enhanced degradation of the B cell receptor
in Sandhoff disease mice.
te Vruchte D, Jeans A, Platt FM, Sillence DJ.
J Inherit Metab Dis. 2010 Jun;33(3):261-70. doi: 10.1007/s10545-010-9109-3. Epub
2010 May 11.
PMID: 20458542
12. Analysis of fluorescently labeled glycosphingolipid-derived oligosaccharides
following ceramide glycanase digestion and anthranilic acid labeling.
Neville DC, Coquard V, Priestman DA, te Vruchte DJ, Sillence DJ, Dwek RA, Platt
FM, Butters TD.
Anal Biochem. 2004 Aug 15;331(2):275-82.
PMID: 15265733
13. 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.
Neurobiol Dis. 2004 Aug;16(3):654-8.

3. PMID: 15262277
14. 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.
J Biol Chem. 2004 Jun 18;279(25):26167-75. Epub 2004 Apr 12.
PMID: 15078881
15. Bloodstream form-specific up-regulation of silent vsg expression sites and
procyclin in Trypanosoma brucei after inhibition of DNA synthesis or DNA damage.
Sheader K, te Vruchte D, Rudenko G.
J Biol Chem. 2004 Apr 2;279(14):13363-74. Epub 2004 Jan 15.
PMID: 14726511
16. Downregulation of Trypanosoma brucei VSG expression site promoters on
circular bacterial artificial chromosomes.
te Vruchte D, Aitcheson N, Rudenko G.
Mol Biochem Parasitol. 2003 May;128(2):123-33.
PMID: 12742579