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Substrate accumulation and extracellular matrix remodelling promote persistent upper airway disease in mucopolysaccharidosis patients on enzyme replacement therapy.

Pal AR, Mercer J, Jones SA, Bruce IA, Bigger BW.

PLoS One. 2018 Sep 18;13(9):e0203216. doi: 10.1371/journal.pone.0203216. eCollection 2018.


Anatomical changes and pathophysiology of the brain in mucopolysaccharidosis disorders.

Bigger BW, Begley DJ, Virgintino D, Pshezhetsky AV.

Mol Genet Metab. 2018 Aug 10. pii: S1096-7192(18)30306-8. doi: 10.1016/j.ymgme.2018.08.003. [Epub ahead of print] Review.


Delivering Hematopoietic Stem Cell Gene Therapy Treatments for Neurological Lysosomal Diseases.

Holley RJ, Wood SR, Bigger BW.

ACS Chem Neurosci. 2018 Aug 23. doi: 10.1021/acschemneuro.8b00408. [Epub ahead of print]


Brain-targeted stem cell gene therapy corrects mucopolysaccharidosis type II via multiple mechanisms.

Gleitz HF, Liao AY, Cook JR, Rowlston SF, Forte GM, D'Souza Z, O'Leary C, Holley RJ, Bigger BW.

EMBO Mol Med. 2018 Jul;10(7). pii: e8730. doi: 10.15252/emmm.201708730.


A novel adeno-associated virus capsid with enhanced neurotropism corrects a lysosomal transmembrane enzyme deficiency.

Tordo J, O'Leary C, Antunes ASLM, Palomar N, Aldrin-Kirk P, Basche M, Bennett A, D'Souza Z, Gleitz H, Godwin A, Holley RJ, Parker H, Liao AY, Rouse P, Youshani AS, Dridi L, Martins C, Levade T, Stacey KB, Davis DM, Dyer A, Clément N, Björklund T, Ali RR, Agbandje-McKenna M, Rahim AA, Pshezhetsky A, Waddington SN, Linden RM, Bigger BW, Henckaerts E.

Brain. 2018 Jul 1;141(7):2014-2031. doi: 10.1093/brain/awy126.


A nonmyeloablative chimeric mouse model accurately defines microglia and macrophage contribution in glioma.

Yu K, Youshani AS, Wilkinson FL, O'Leary C, Cook P, Laaniste L, Liao A, Mosses D, Waugh C, Shorrock H, Pathmanaban O, Macdonald A, Kamaly-Asl I, Roncaroli F, Bigger BW.

Neuropathol Appl Neurobiol. 2018 Apr 20. doi: 10.1111/nan.12489. [Epub ahead of print]


Identification of unusual oxysterols and bile acids with 7-oxo or 3β,5α,6β-trihydroxy functions in human plasma by charge-tagging mass spectrometry with multistage fragmentation.

Griffiths WJ, Gilmore I, Yutuc E, Abdel-Khalik J, Crick PJ, Hearn T, Dickson A, Bigger BW, Wu TH, Goenka A, Ghosh A, Jones SA, Wang Y.

J Lipid Res. 2018 Jun;59(6):1058-1070. doi: 10.1194/jlr.D083246. Epub 2018 Apr 6.


High content screening of patient-derived cell lines highlights the potential of non-standard chemotherapeutic agents for the treatment of glioblastoma.

Yu KK, Taylor JT, Pathmanaban ON, Youshani AS, Beyit D, Dutko-Gwozdz J, Benson R, Griffiths G, Peers I, Cueppens P, Telfer BA, Williams KJ, McBain C, Kamaly-Asl ID, Bigger BW.

PLoS One. 2018 Mar 2;13(3):e0193694. doi: 10.1371/journal.pone.0193694. eCollection 2018.


Macrophage enzyme and reduced inflammation drive brain correction of mucopolysaccharidosis IIIB by stem cell gene therapy.

Holley RJ, Ellison SM, Fil D, O'Leary C, McDermott J, Senthivel N, Langford-Smith AWW, Wilkinson FL, D'Souza Z, Parker H, Liao A, Rowlston S, Gleitz HFE, Kan SH, Dickson PI, Bigger BW.

Brain. 2018 Jan 1;141(1):99-116. doi: 10.1093/brain/awx311.


Recommendations on clinical trial design for treatment of Mucopolysaccharidosis Type III.

Ghosh A, Shapiro E, Rust S, Delaney K, Parker S, Shaywitz AJ, Morte A, Bubb G, Cleary M, Bo T, Lavery C, Bigger BW, Jones SA.

Orphanet J Rare Dis. 2017 Jun 26;12(1):117. doi: 10.1186/s13023-017-0675-4.


Identification of age-dependent motor and neuropsychological behavioural abnormalities in a mouse model of Mucopolysaccharidosis Type II.

Gleitz HF, O'Leary C, Holley RJ, Bigger BW.

PLoS One. 2017 Feb 16;12(2):e0172435. doi: 10.1371/journal.pone.0172435. eCollection 2017.


Sterols and oxysterols in plasma from Smith-Lemli-Opitz syndrome patients.

Griffiths WJ, Abdel-Khalik J, Crick PJ, Ogundare M, Shackleton CH, Tuschl K, Kwok MK, Bigger BW, Morris AA, Honda A, Xu L, Porter NA, Björkhem I, Clayton PT, Wang Y.

J Steroid Biochem Mol Biol. 2017 May;169:77-87. doi: 10.1016/j.jsbmb.2016.03.018. Epub 2016 Mar 11.


The impact of the immune system on the safety and efficiency of enzyme replacement therapy in lysosomal storage disorders.

Broomfield A, Jones SA, Hughes SM, Bigger BW.

J Inherit Metab Dis. 2016 Jul;39(4):499-512. doi: 10.1007/s10545-016-9917-1. Epub 2016 Feb 16. Review.


Enzyme replacement therapy prior to haematopoietic stem cell transplantation in Mucopolysaccharidosis Type I: 10 year combined experience of 2 centres.

Ghosh A, Miller W, Orchard PJ, Jones SA, Mercer J, Church HJ, Tylee K, Lund T, Bigger BW, Tolar J, Wynn RF.

Mol Genet Metab. 2016 Mar;117(3):373-7. doi: 10.1016/j.ymgme.2016.01.011. Epub 2016 Jan 27.


The role of antibodies in enzyme treatments and therapeutic strategies.

Bigger BW, Saif M, Linthorst GE.

Best Pract Res Clin Endocrinol Metab. 2015 Mar;29(2):183-94. doi: 10.1016/j.beem.2015.01.006. Epub 2015 Jan 24. Review.


Sleep disordered breathing in mucopolysaccharidosis I: a multivariate analysis of patient, therapeutic and metabolic correlators modifying long term clinical outcome.

Pal AR, Langereis EJ, Saif MA, Mercer J, Church HJ, Tylee KL, Wynn RF, Wijburg FA, Jones SA, Bruce IA, Bigger BW.

Orphanet J Rare Dis. 2015 Apr 10;10:42. doi: 10.1186/s13023-015-0255-4.


An investigation of the middle and late behavioural phenotypes of Mucopolysaccharidosis Type-III.

Cross EM, Grant S, Jones S, Bigger BW, Wraith JE, Mahon LV, Lomax M, Hare DJ.

J Neurodev Disord. 2014;6(1):46. doi: 10.1186/1866-1955-6-46. Epub 2014 Dec 31.


Neuroinflammation, mitochondrial defects and neurodegeneration in mucopolysaccharidosis III type C mouse model.

Martins C, Hůlková H, Dridi L, Dormoy-Raclet V, Grigoryeva L, Choi Y, Langford-Smith A, Wilkinson FL, Ohmi K, DiCristo G, Hamel E, Ausseil J, Cheillan D, Moreau A, Svobodová E, Hájková Z, Tesařová M, Hansíková H, Bigger BW, Hrebícek M, Pshezhetsky AV.

Brain. 2015 Feb;138(Pt 2):336-55. doi: 10.1093/brain/awu355. Epub 2015 Jan 6. Erratum in: Brain. 2015 Jul;138(Pt 7):e366.


In vivo T-cell depletion using alemtuzumab in family and unrelated donor transplantation for pediatric non-malignant disease achieves engraftment with low incidence of graft vs. host disease.

Saif MA, Borrill R, Bigger BW, Lee H, Logan A, Poulton K, Hughes S, Turner AJ, Bonney DK, Wynn RF.

Pediatr Transplant. 2015 Mar;19(2):211-8. doi: 10.1111/petr.12416. Epub 2014 Dec 26.


Quantitative charge-tags for sterol and oxysterol analysis.

Crick PJ, William Bentley T, Abdel-Khalik J, Matthews I, Clayton PT, Morris AA, Bigger BW, Zerbinati C, Tritapepe L, Iuliano L, Wang Y, Griffiths WJ.

Clin Chem. 2015 Feb;61(2):400-11. doi: 10.1373/clinchem.2014.231332. Epub 2014 Dec 15.


Biomarker responses correlate with antibody status in mucopolysaccharidosis type I patients on long-term enzyme replacement therapy.

Langereis EJ, van Vlies N, Church HJ, Geskus RB, Hollak CE, Jones SA, Kulik W, van Lenthe H, Mercer J, Schreider L, Tylee KL, Wagemans T, Wijburg FA, Bigger BW.

Mol Genet Metab. 2015 Feb;114(2):129-37. doi: 10.1016/j.ymgme.2014.10.012. Epub 2014 Oct 29.


Is it congenital or acquired von Willebrands disease?

Saif MA, Thachil J, Brown R, Bigger BW, Wynn RF, Nash M, Hay CR.

Haemophilia. 2015 Jan;21(1):e113-5. doi: 10.1111/hae.12588. Epub 2014 Nov 7. No abstract available.


Heparan sulfate inhibits hematopoietic stem and progenitor cell migration and engraftment in mucopolysaccharidosis I.

Watson HA, Holley RJ, Langford-Smith KJ, Wilkinson FL, van Kuppevelt TH, Wynn RF, Wraith JE, Merry CL, Bigger BW.

J Biol Chem. 2014 Dec 26;289(52):36194-203. doi: 10.1074/jbc.M114.599944. Epub 2014 Oct 30.


Novel approaches and mechanisms in hematopoietic stem cell gene therapy.

Bigger BW, Wynn RF.

Discov Med. 2014 Apr;17(94):207-15. Review.


Signal one and two blockade are both critical for non-myeloablative murine HSCT across a major histocompatibility complex barrier.

Langford-Smith KJ, Sandiford Z, Langford-Smith A, Wilkinson FL, Jones SA, Wraith JE, Wynn RF, Bigger BW.

PLoS One. 2013 Oct 17;8(10):e77632. doi: 10.1371/journal.pone.0077632. eCollection 2013.


Myeloid/Microglial driven autologous hematopoietic stem cell gene therapy corrects a neuronopathic lysosomal disease.

Sergijenko A, Langford-Smith A, Liao AY, Pickford CE, McDermott J, Nowinski G, Langford-Smith KJ, Merry CL, Jones SA, Wraith JE, Wynn RF, Wilkinson FL, Bigger BW.

Mol Ther. 2013 Oct;21(10):1938-49. doi: 10.1038/mt.2013.141. Epub 2013 Jun 7.


Mucopolysaccharide diseases: a complex interplay between neuroinflammation, microglial activation and adaptive immunity.

Archer LD, Langford-Smith KJ, Bigger BW, Fildes JE.

J Inherit Metab Dis. 2014 Jan;37(1):1-12. doi: 10.1007/s10545-013-9613-3. Epub 2013 May 8. Review.


Busulfan conditioning enhances engraftment of hematopoietic donor-derived cells in the brain compared with irradiation.

Wilkinson FL, Sergijenko A, Langford-Smith KJ, Malinowska M, Wynn RF, Bigger BW.

Mol Ther. 2013 Apr;21(4):868-76. doi: 10.1038/mt.2013.29. Epub 2013 Feb 19. Erratum in: Mol Ther. 2013 Jul;21(7):1464.


Plasma and urinary levels of dermatan sulfate and heparan sulfate derived disaccharides after long-term enzyme replacement therapy (ERT) in MPS I: correlation with the timing of ERT and with total urinary excretion of glycosaminoglycans.

de Ru MH, van der Tol L, van Vlies N, Bigger BW, Hollak CE, Ijlst L, Kulik W, van Lenthe H, Saif MA, Wagemans T, van der Wal WM, Wanders RJ, Wijburg FA.

J Inherit Metab Dis. 2013 Mar;36(2):247-55. doi: 10.1007/s10545-012-9538-2. Epub 2012 Sep 19.


Analytical strategies for characterization of oxysterol lipidomes: liver X receptor ligands in plasma.

Griffiths WJ, Crick PJ, Wang Y, Ogundare M, Tuschl K, Morris AA, Bigger BW, Clayton PT, Wang Y.

Free Radic Biol Med. 2013 Jun;59:69-84. doi: 10.1016/j.freeradbiomed.2012.07.027. Epub 2012 Jul 27.


Characterisation of the T cell and dendritic cell repertoire in a murine model of mucopolysaccharidosis I (MPS I).

Archer LD, Langford-Smith KJ, Critchley WR, Bigger BW, Fildes JE.

J Inherit Metab Dis. 2013 Mar;36(2):257-62. doi: 10.1007/s10545-012-9508-8. Epub 2012 Jul 7.


Neuropathology in mouse models of mucopolysaccharidosis type I, IIIA and IIIB.

Wilkinson FL, Holley RJ, Langford-Smith KJ, Badrinath S, Liao A, Langford-Smith A, Cooper JD, Jones SA, Wraith JE, Wynn RF, Merry CL, Bigger BW.

PLoS One. 2012;7(4):e35787. doi: 10.1371/journal.pone.0035787. Epub 2012 Apr 27.


Hematopoietic stem cell and gene therapy corrects primary neuropathology and behavior in mucopolysaccharidosis IIIA mice.

Langford-Smith A, Wilkinson FL, Langford-Smith KJ, Holley RJ, Sergijenko A, Howe SJ, Bennett WR, Jones SA, Wraith J, Merry CL, Wynn RF, Bigger BW.

Mol Ther. 2012 Aug;20(8):1610-21. doi: 10.1038/mt.2012.82. Epub 2012 May 1.


Hematopoietic stem cell transplantation improves the high incidence of neutralizing allo-antibodies observed in Hurler's syndrome after pharmacological enzyme replacement therapy.

Saif MA, Bigger BW, Brookes KE, Mercer J, Tylee KL, Church HJ, Bonney DK, Jones S, Wraith JE, Wynn RF.

Haematologica. 2012 Sep;97(9):1320-8. doi: 10.3324/haematol.2011.058644. Epub 2012 Feb 27.


Female mucopolysaccharidosis IIIA mice exhibit hyperactivity and a reduced sense of danger in the open field test.

Langford-Smith A, Langford-Smith KJ, Jones SA, Wynn RF, Wraith JE, Wilkinson FL, Bigger BW.

PLoS One. 2011;6(10):e25717. doi: 10.1371/journal.pone.0025717. Epub 2011 Oct 18.


Mucopolysaccharidosis type I, unique structure of accumulated heparan sulfate and increased N-sulfotransferase activity in mice lacking α-l-iduronidase.

Holley RJ, Deligny A, Wei W, Watson HA, Niñonuevo MR, Dagälv A, Leary JA, Bigger BW, Kjellén L, Merry CL.

J Biol Chem. 2011 Oct 28;286(43):37515-24. doi: 10.1074/jbc.M111.287474. Epub 2011 Aug 26.


Trial and error: how the unclonable human mitochondrial genome was cloned in yeast.

Bigger BW, Liao AY, Sergijenko A, Coutelle C.

Pharm Res. 2011 Nov;28(11):2863-70. doi: 10.1007/s11095-011-0527-1. Epub 2011 Jul 9.


Hyperactive behaviour in the mouse model of mucopolysaccharidosis IIIB in the open field and home cage environments.

Langford-Smith A, Malinowska M, Langford-Smith KJ, Wegrzyn G, Jones S, Wynn R, Wraith JE, Wilkinson FL, Bigger BW.

Genes Brain Behav. 2011 Aug;10(6):673-82. doi: 10.1111/j.1601-183X.2011.00706.x. Epub 2011 Jun 29.


Heparin cofactor II-thrombin complex and dermatan sulphate:chondroitin sulphate ratio are biomarkers of short- and long-term treatment effects in mucopolysaccharide diseases.

Langford-Smith KJ, Mercer J, Petty J, Tylee K, Church H, Roberts J, Moss G, Jones S, Wynn R, Wraith JE, Bigger BW.

J Inherit Metab Dis. 2011 Apr;34(2):499-508. doi: 10.1007/s10545-010-9254-8. Epub 2010 Dec 18.


Genistein improves neuropathology and corrects behaviour in a mouse model of neurodegenerative metabolic disease.

Malinowska M, Wilkinson FL, Langford-Smith KJ, Langford-Smith A, Brown JR, Crawford BE, Vanier MT, Grynkiewicz G, Wynn RF, Wraith JE, Wegrzyn G, Bigger BW.

PLoS One. 2010 Dec 1;5(12):e14192. doi: 10.1371/journal.pone.0014192.


Successful allogeneic bone marrow transplant for Niemann-Pick disease type C2 is likely to be associated with a severe 'graft versus substrate' effect.

Bonney DK, O'Meara A, Shabani A, Imrie J, Bigger BW, Jones S, Wraith JE, Wynn RF.

J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S171-3.


Circadian rhythm and suprachiasmatic nucleus alterations in the mouse model of mucopolysaccharidosis IIIB.

Canal MM, Wilkinson FL, Cooper JD, Wraith JE, Wynn R, Bigger BW.

Behav Brain Res. 2010 Jun 19;209(2):212-20. doi: 10.1016/j.bbr.2010.01.045. Epub 2010 Feb 4.


Evaluation of heparin cofactor II-thrombin complex as a biomarker on blood spots from mucopolysaccharidosis I, IIIA and IIIB mice.

Langford-Smith K, Arasaradnam M, Wraith JE, Wynn R, Bigger BW.

Mol Genet Metab. 2010 Mar;99(3):269-74. doi: 10.1016/j.ymgme.2009.10.175. Epub 2009 Oct 23.


Genistein reduces lysosomal storage in peripheral tissues of mucopolysaccharide IIIB mice.

Malinowska M, Wilkinson FL, Bennett W, Langford-Smith KJ, O'Leary HA, Jakobkiewicz-Banecka J, Wynn R, Wraith JE, Wegrzyn G, Bigger BW.

Mol Genet Metab. 2009 Nov;98(3):235-42. doi: 10.1016/j.ymgme.2009.06.013. Epub 2009 Jun 27.


Improved metabolic correction in patients with lysosomal storage disease treated with hematopoietic stem cell transplant compared with enzyme replacement therapy.

Wynn RF, Wraith JE, Mercer J, O'Meara A, Tylee K, Thornley M, Church HJ, Bigger BW.

J Pediatr. 2009 Apr;154(4):609-11. doi: 10.1016/j.jpeds.2008.11.005.


Murine leukemia following irradiation conditioning for transplantation of lentivirally-modified hematopoietic stem cells.

Siapati EK, Bigger BW, Kashofer K, Themis M, Thrasher AJ, Bonnet D.

Eur J Haematol. 2007 Apr;78(4):303-13.


The bone marrow functionally contributes to liver fibrosis.

Russo FP, Alison MR, Bigger BW, Amofah E, Florou A, Amin F, Bou-Gharios G, Jeffery R, Iredale JP, Forbes SJ.

Gastroenterology. 2006 May;130(6):1807-21.


Permanent partial phenotypic correction and tolerance in a mouse model of hemophilia B by stem cell gene delivery of human factor IX.

Bigger BW, Siapati EK, Mistry A, Waddington SN, Nivsarkar MS, Jacobs L, Perrett R, Holder MV, Ridler C, Kemball-Cook G, Ali RR, Forbes SJ, Coutelle C, Wright N, Alison M, Thrasher AJ, Bonnet D, Themis M.

Gene Ther. 2006 Jan;13(2):117-26.


Comparison of HIV- and EIAV-based vectors on their efficiency in transducing murine and human hematopoietic repopulating cells.

Siapati EK, Bigger BW, Miskin J, Chipchase D, Parsley KL, Mitrophanous K, Themis M, Thrasher AJ, Bonnet D.

Mol Ther. 2005 Sep;12(3):537-46.


Permanent phenotypic correction of hemophilia B in immunocompetent mice by prenatal gene therapy.

Waddington SN, Nivsarkar MS, Mistry AR, Buckley SM, Kemball-Cook G, Mosley KL, Mitrophanous K, Radcliffe P, Holder MV, Brittan M, Georgiadis A, Al-Allaf F, Bigger BW, Gregory LG, Cook HT, Ali RR, Thrasher A, Tuddenham EG, Themis M, Coutelle C.

Blood. 2004 Nov 1;104(9):2714-21. Epub 2004 Jul 1. Erratum in: Blood. 2006 Mar 1;107(5):1750.

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