Publications
CGDS firmly believes that ‘knowledge is power’ when it comes to finding new treatments and a cure for CGD. We encourage the researchers we fund to present their work at scientific forums around the world and in prestigious journals so that information can be shared widely to speed up research.
We list below the publications resulting from our grant funding programme from 1995 to the present day. The list shows the journey we have made in the detailed understanding of CGD and the pioneering work leading to bringing gene therapy for CGD into the clinic for patient benefit. It also highlights how our funding has impacted on other conditions such as Crohn’s disease and in helping develop gene therapy for eye disease and X-SCID (X-linked severe combined immunodeficiency, an inherited disorder of the immune system that occurs almost exclusively in males and makes them prone to recurrent and persistent infections).
At CGDS we are immensely proud of this track record and the wealth of knowledge that we have helped promote.
2019
Novel Diagnostic Tool for p47 phox-Deficient Chronic Granulomatous Disease Patient and Carrier Detection. Wrona D, Siler U, Reichenbach J. Mol Ther Methods Clin Dev. 2019 Feb 10;13:274-278. doi: 10.1016/j.omtm.2019.02.001.
Link: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6395829/
Research study involving the CGD Society Clinical Nurse Specialist
Chronic Granulomatous Disorder-Associated Colitis Can Be Accurately Evaluated with MRI Scans and Fecal Calprotectin Level. Lowe DM, Smith PJ, Moreira F, Workman S, Braggins H, Koukias N, Buckland MS, Wylie P, Taylor SA, Murray CD. J Clin Immunol. 2019 Jun 6. doi: 10.1007/s10875-019-00651-2.
Link: https://www.ncbi.nlm.nih.gov/pubmed/31172380
Health-related quality of life and emotional health in X-linked carriers of chronic granulomatous disease in the United Kingdom. Battersby AC, Braggins H, Pearce MS, McKendrick F, Campbell M, Burns S, Cale CM, Goldblatt D, Gennery AR. Journal of Clinical Immunology, 2019, Feb; 39(2):195-199.
Link: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6445821/
2018
Lentiviral gene therapy vector with UCOE stably restores function in iPSC-derived neutrophils of a CDG patient. Science matters, May 2018. Haenseler, W. Kuzmenko, E. Smalls-Mantey, A. Browne, C. Seger, R. James, WS, Cowley, SA, Reichenbach, J. Siler, U.
Link: https://sciencematters.io/articles/201805000005
Male X-chromosome mosaicism leading to carrier phenotype and inheritance of chronic granulomatous disease. Harris S, Braggins H, van Leeuwen K, Gilmour, K, Buckland MS, Roos D, Lowe, DM. J Allergy Clin Immunol Pract. 2018 Sep - Oct;6(5):1775-1777.e1. doi: 10.1016/j.jaip.2018.01.017. Epub 2018 Feb 2.
2017
Inflammatory and autoimmune manifestations in X-linked carriers of chronic granulomatous disease in the United Kingdom. Battersby AC, Braggins H, Pearce MS, Cale CM, Burns SO, Hackett S, Hughes S, Barge D, Goldblatt D, Gennery AR. J Allergy Clin Immunol. 2017 Aug;140(2):628-630.e6. doi: 10.1016/j.jaci.2017.02.029. Epub 2017 Mar 23.
CRISPR/Cas9-generated p47phox-deficient cell line for CGD gene therapy vector development. Wrona D, Siler U, Reichenbach J. Scientific Reports 2017 Mar 13;7:44187.
Link: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4331116/
2013
Neutrophils regulate tissue Neutrophilia in inflammation via the oxidant-modified lipid lysophosphatidylserine. Frasch SC, Fernandez-Boyanapalli RF, Berry KA, Murphy RC, Leslie CC, Nick JA, Henson PM, Bratton DL. J Biol Chem. 2013 Feb 15;288(7):4583-93.
Link: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3576064/
Resistant invasive aspergillosis in an autosomal recessive chronic granulomatous disease.
Sfaihi L, Maaloul I, Fourati H, Stasia MJ, Mnif Z, Hachicha M. Fetal Pediatr Pathol. 2013 Jul;32(4):241-5
Link: http://www.ncbi.nlm.nih.gov/pubmed/23002911
2012
MC1R expression in HaCaT keratinocytes inhibits UVA-induced ROS production via NADPH oxidase- and cAMP-dependent mechanisms. Henri P, Beaumel S, Guezennec A, Poumès C, Stoebner PE, Stasia MJ, Guesnet J, Martinez J, Meunier L. J Cell Physiol. 2012 Jun;227(6):2578-85.
Link: http://www.ncbi.nlm.nih.gov/pubmed/21898403
Emerging roles for lysophosphatidylserine in resolution of inflammation. Frasch SC, Bratton DL. Prog Lipid Res. 2012 Jul;51(3):199-207.
Link: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3365616/
Rare duplication or deletion of exons 6, 7 and 8 in CYBB leading to X-linked chronic granulomatous disease in two patients from different families.
Stasia MJ, van Leeuwen K, de Boer M, Martel C, Mollin M, Thuret I, Michel G, Hanson C, Augustine NH, Coutton C, Satre V, Wittwer CT, Hill H, Roos D. J Clin Immunol. 2012 Aug;32(4):653-62.
Link: http://www.ncbi.nlm.nih.gov/pubmed/22382877
Clinical, functional and genetic analysis of twenty-four patients with chronic granulomatous disease - identification of eight novel mutations in CYBB and NCF2 genes.
Martel C, Mollin M, Beaumel S, Brion JP, Coutton C, Satre V, Vieville G, Callanan M, Lefebvre C, Salmon A, Pagnier A, Plantaz D, Bost-Bru C, Eitenschenck L, Durieu I, Floret D, Galambrun C, Chambost H, Michel G, Stephan JL, Hermine O, Blanche S, Blot N, Rubié H, Pouessel G, Drillon-Haus S, Conrad B, Posfay-Barbe KM, Havlicekova Z, Voskresenky-Baricic T, Jadranka K, Arriazu MC, Garcia LA, Sfaihi L, Bordigoni P, Stasia MJ. J Clin Immunol. 2012 Oct;32(5):942-58.
Link: http://www.ncbi.nlm.nih.gov/pubmed/22562447
2011
Characterization of superoxide overproduction by the D-Loop(Nox4)-Nox2 cytochrome b(558) in phagocytes-Differential sensitivity to calcium and phosphorylation events.
Carrichon L, Picciocchi A, Debeurme F, Defendi F, Beaumel S, Jesaitis AJ, Dagher MC, Stasia MJ. Biochim Biophys Acta. 2011 Jan;1808(1):78-90.
Link: http://www.ncbi.nlm.nih.gov/pubmed/20708598
Signaling via macrophage G2A enhances efferocytosis of dying neutrophils by augmentation of Rac activity. Frasch SC, Fernandez-Boyanapalli RF, Berry KZ, Leslie CC, Bonventre JV, Murphy RC, Henson PM, Bratton DL. J Biol Chem. 2011 Apr 8;286(14):12108-22.
Link: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3069415/
Role of putative second transmembrane region of Nox2 protein in the structural stability and electron transfer of the phagocytic NADPH oxidase.
Picciocchi A, Debeurme F, Beaumel S, Dagher MC, Grunwald D, Jesaitis AJ, Stasia MJ. J Biol Chem. 2011 Aug 12;286(32):28357-69.
Link: http://www.ncbi.nlm.nih.gov/pubmed/21659519
Restoration of anti-Aspergillus defense by neutrophil extracellular traps in human chronic granulomatous disease after gene therapy is calprotectin-dependent. Bianchi M, Niemiec MJ, Siler U, Urban CF, Reichenbach J. J Allergy Clin Immunol. 2011 May;127(5):1243-52.e7.
Link: http://www.ncbi.nlm.nih.gov/pubmed/21376380
Comment: J Allergy Clin Immunol. 2011 Sep;128(3):686-7; author reply 687-8
PhD thesis, University of Zurich, ‘Gene Therapy for Chronic Granulomatous Disease and anti-Aspergillus Activity of Reconstituted Neutrophil Extracellular Trap Formation’Submitted by Matteo Bianchi.
Adaptive immune defects against glycoantigens in chronic granulomatous disease via dysregulated nitric oxide production. Lewis CJ, Cobb BA. Eur J Immunol. 2011 Sep;41(9):2562-72.
Link: http://www.ncbi.nlm.nih.gov/pubmed/21630251
Signaling via macrophage G2A enhances efferocytosis of dying neutrophils by augmentation of Rac activity. 2011. Frasch SC, Fernandez-Boyanapalli RF, Berry KZ, Leslie CC, Bonventre JV, Murphy RC, Henson PM, Bratton DL. J. Biol. Chem. 286: 12108-12122.
Link: http://www.ncbi.nlm.nih.gov/pubmed/21297111
Oxidase-deficient neutrophils from X-linked chronic granulomatous disease iPS cells: functional correction by zinc finger nuclease-mediated safe harbor targeting. Blood 2011 117(21):5561-72. Zou J, Sweeney CL, Chou BK, Choi BK, Pan J, Wang H, Dowey SN, Cheng L, Malech HL.
Link: http://www.ncbi.nlm.nih.gov/pubmed/21411759
Comment: Blood. 2011 May 26;117(21):5554-6
Generation of Functional Neutrophils from a Mouse Model of X-Linked Chronic Granulomatous Disorder Using Induced Pluripotent Stem Cells. 2011. Mukherjee S, Santilli G, Blundell MP, Navarro S, Bueren JA, Thrasher AJ. PLoS One. Mar 3;6(3):e17565.
Link: http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0017565
Biochemical correction of X-CGD by a novel chimeric promoter regulating high levels of transgene expression in myeloid cells. 2011. Mol Ther. Jan;19(1):122-32. Mukherjee S, Santilli G, Blundell MP, Navarro S, Bueren JA, Thrasher AJ.
Link: http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0017565
Correction of SCID-X1 using an enhancerless Vav promoter. Almarza E, Zhang F, Santilli G, Blundell MP, Howe SJ, Thornhill SI, Bueren JA, Thrasher AJ. Hum Gene Ther. 2011.
Mar;22(3):263-70.
Link: http://www.ncbi.nlm.nih.gov/pubmed/20887212
Gene therapy for chronic granulomatous disease: the engraftment dilemma. Grez M, Reichenbach J, Schwäble J, Seger R, Dinauer MC, Thrasher AJ. Mol Ther. 2011 Jan;19(1):28-35. Review.
Link: http://www.ncbi.nlm.nih.gov/pubmed/21045810
The neutrophil respiratory burst and bacterial digestion in Crohn's disease. 2011. Dig Dis Sci.;56(5):1482-8. Hayee B, Rahman FZ, Tempero J, McCartney S, Bloom SL, Segal AW, Smith AM.
Link: http://www.ncbi.nlm.nih.gov/pubmed/20936355
2010
Towards routine screening of rare genetic diseases: the example of chronic granulomatous disease. Stasia MJ. J Mol Diagn. 2010 May;12(3):269-71.
Link: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2860460/
Regulation of NADPH oxidase activity in phagocytes: relationship between FAD/NADPH binding and oxidase complex assembly. Debeurme F, Picciocchi A, Dagher MC, Grunwald D, Beaumel S, Fieschi F, Stasia MJ. J Biol Chem. 2010 Oct 22;285(43):33197-208.
Link: http://www.ncbi.nlm.nih.gov/pubmed/20724480
Impaired phagocytosis of apoptotic cells by macrophages in chronic granulomatous disease is reversed by IFN-γ in a nitric oxide-dependent manner. 2010. Fernandez-Boyanapalli R, McPhillips KA, Frasch SC, Janssen WJ, Dinauer MC, Riches DW, Henson PM, Byrne A, Bratton DL. J Immunol. Oct 1;185(7):4030-41.
Link: http://www.jimmunol.org/content/185/7/4030.long
PPARγ activation normalizes resolution of acute sterile inflammation in murine chronic granulomatous disease. 2010. Fernandez-Boyanapalli R, Frasch SC, Riches DW, Vandivier RW, Henson PM, Bratton DL. Blood. Nov 25;116(22):4512-22.
Link: http://www.ncbi.nlm.nih.gov/pubmed/20693431
A new PG13-based packaging cell line for stable production of clinical-grade self-inactivating gamma-retroviral vectors using targeted integration. Loew R, Meyer Y, Kuehlcke K, Gama-Norton L, Wirth D, Hauser H, Stein S, Grez M, Thornhill S, Thrasher A, Baum C, Schambach A. Gene Ther. 2010 Feb;17(2):272-80.
Link: http://www.ncbi.nlm.nih.gov/pubmed/19865181
Genomic instability and myelodysplasia with monosomy 7 consequent to EVI1 activation after gene therapy for chronic granulomatous disease. Stein S, Ott MG, Schultze-Strasser S, Jauch A, Burwinkel B, Kinner A, Schmidt M, Krämer A, Schwäble J, Glimm H, Koehl U, Preiss C, Ball C, Martin H, Göhring G, Schwarzwaelder K, Hofmann WK, Karakaya K, Tchatchou S, Yang R, Reinecke P, Kühlcke K, Schlegelberger B, Thrasher AJ, Hoelzer D, Seger R, von Kalle C, Grez M. Nat Med. 2010 Feb;16(2):198-204.
Link: http://www.ncbi.nlm.nih.gov/pubmed/20098431
Carbohydrate oxidation acidifies endosomes, regulating antigen processing and TLR9 signaling. Lewis CJ, Cobb BA. J Immunol. 2010 Apr 1;184(7):3789-800.
Link: www.ncbi.nlm.nih.gov/pmc/articles/PMC2902972/?tool=pubmed
NADPH oxidase limits innate immune responses in the lungs in mice. Segal BH, Han W, Bushey JJ, Joo M, Bhatti Z, Feminella J, Dennis CG, Vethanayagam RR, Yull FE, Capitano M, Wallace PK, Minderman H, Christman JW, Sporn MB, Chan J, Vinh DC, Holland SM, Romani LR, Gaffen SL, Freeman ML, Blackwell TS. PLoS One. 2010 Mar 16;5(3):e9631.
Link: http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0009631
Hematologically important mutations: X-linked chronic granulomatous disease (third update). Roos D, Kuhns DB, Maddalena A, Roesler J, Lopez JA, Ariga T, Avcin T, de Boer M, Bustamante J, Condino-Neto A, Di Matteo G, He J, Hill HR, Holland SM, Kannengiesser C, Köker MY, Kondratenko I, van Leeuwen K, Malech HL, Marodi L, Nunoi H, Stasia MJ, Ventura AM, Witwer CT, Wolach B, Gallin JI. Blood Cells Mol Dis. 2010 Oct 15;45(3):246-65. Review.
Link: http://www.ncbi.nlm.nih.gov/pubmed/20729109
Hematologically important mutations: X-linked chronic granulomatous disease (third update). Roos D, Kuhns DB, Maddalena A, Bustamante J, Kannengiesser C, de Boer M, van Leeuwen K, Köker MY, Wolach B, Roesler J, Malech HL, Holland SM, Gallin JI, Stasia MJ.
Blood Cells Mol Dis. 2010 Apr 15;44(4):291-9. Review.
Link: http://www.ncbi.nlm.nih.gov/pubmed/20729109
2009
Restoration of NET formation by gene therapy in CGD controls aspergillosis. Bianchi M, Hakkim A, Brinkmann V, Siler U, Seger RA, Zychlinsky A, Reichenbach J. Blood. 2009 Sep 24;114(13):2619-22.
Link: http://bloodjournal.hematologylibrary.org/content/114/13/2619.long
Actinomyces in chronic granulomatous disease: an emerging and unanticipated pathogen. Reichenbach J, Lopatin U, Mahlaoui N, Beovic B, Siler U, Zbinden R, Seger RA, Galmiche L, Brousse N, Kayal S, Güngör T, Blanche S, Holland SM. Clin Infect Dis. 2009 Dec 1;49(11):1703-10.
Link: http://cid.oxfordjournals.org/content/49/11/1703.long
Impaired macrophage function following bacterial stimulation in chronic granulomatous disease. 2009. Immunology Oct;128(2):253-9. Rahman FZ, Hayee B, Chee R, Segal AW, Smith AM.
Link: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2767315/?tool=pubmed
Exogenous pentraxin 3 restores antifungal resistance and restrains inflammation in murine chronic granulomatous disease. 2009. D'Angelo C, De Luca A, Zelante T, Bonifazi P, Moretti S, Giovannini G, Iannitti RG, Zagarella S, Bozza S, Campo S, Salvatori G, Romani L. J Immunol. Oct 1;183(7):4609-18.
Link: http://www.jimmunol.org/content/183/7/4609.long
Chronic granulomatous disease: the European experience. van den Berg JM, van Koppen E, Ahlin A, Belohradsky BH, Bernatowska E, Corbeel L, Espanol T, Fischer A, Kurenko-Deptuch M, Mouy R, Petropoulou T, Roesler J, Seger R, Stasia MJ, Valerius NH, Weening RS, Wolach B, Roos D, Kuijpers TW. PLoS ONE. 2009;4(4):e5234.
Link: http://www.plosone.org/article/info:doi/10.1371/journal.pone.0005234
Transgene optimization significantly improves SIN vector titers, gp91(phox) expression and reconstitution of superoxide production in X-CGD cells. Moreno-Carranza B., Gentsch M., Stein S., Schambach A., Santilli G., Rudolf E., Ryser M.F., Haria S., Thrasher AJ., Baum C., Brenner S., Grez M. Gene Therapy 2009, 16:111-118.
Link: http://www.ncbi.nlm.nih.gov/pubmed/18784749
Correction of X-linked chronic granulomatous disease by gene therapy, augmented by insertional activation of MDS1-EVI1, PRDM16 or SETBP1. Ott MG, Schmidt M, Schwarzwaelder K, Stein S, Siler U, Koehl U, Glimm H, Kühlcke K, Schilz A, Kunkel H, Naundorf S, Brinkmann A, Deichmann A, Fischer M, Ball C, Pilz I, Dunbar C, Du Y, Jenkins NA, Copeland NG, Lüthi U, Hassan M, Thrasher AJ, Hoelzer D, von Kalle C, Seger R, Grez M. Nat Med. 2006 Apr;12(4):401-9.
Link: http://www.ncbi.nlm.nih.gov/pubmed/16582916
Gene therapy for chronic granulomatous disease. Stein S, Siler U, Ott MG, Seger R, Grez M. Curr Opin Mol Ther. 2006 Oct;8(5):415-22. Review.
Link: http://www.ncbi.nlm.nih.gov/pubmed/17078383
Impaired Interferon-γ Responses, Increased Interleukin-17 Expression, and a Tumor Necrosis Factor–α Transcriptional Program in Invasive Aspergillosis. Armstrong-James DP, Turnbull SA, Teo I, Stark J, Rogers NJ, Rogers TR, Bignell E, Haynes K. J Infect Dis. 2009 Oct 15;200(8):1341-51.
Link: http://jid.oxfordjournals.org/content/200/8/1341.long
PhD Thesis. Exact title to be confirmed. Dr Suzy Turnbull, Suzy, Imperial College London.
2008
Identification of a conserved Rac-binding site on NADPH oxidases supports a direct GTPase regulatory mechanism. Kao YY, Gianni D, Bohl B, Taylor RM, Bokoch GM. J Biol Chem. 2008 May 9;283(19):12736-46.
Link: www.ncbi.nlm.nih.gov/pmc/articles/PMC2442356/?tool=pubmed
Regulation of NADPH Oxidases by RAC GTPase. Bokoch GM, Gianni, D, Kim J0S and Kao Y-Y. 2008 Handbook of Cell Signaling (2)
Gene therapy of inherited immunodeficiencies. Santilli G, Thornhill SI, Kinnon C, Thrasher AJ. Expert Opin Biol Ther. 2008 apr:8(4):397-407. Review.
Link: http://www.ncbi.nlm.nih.gov/pubmed/18352845
Special article: chronic granulomatous disease in the United Kingdom and Ireland: a comprehensive national patient-based registry. Jones LB, McGrogan P, Flood TJ, Gennery AR, Morton L, Thrasher A., Goldblatt D, Parker L, Cant AJ. Clin Exp Immunol. 2008 May: 152(2):211-8.
Link: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2384093/?tool=pubmed
The prevalence of undiagnosed disorders of neutrophil function mimicking Crohn's disease. A. Smith and F. Rahman. Digestive Disease Week Meeting, San Diego, USA, May 2008.'Published in Gastroenterology 2008; 134 (Suppl 1): A14.
2007
Cutaneous and other lupus-like symptoms in carriers of X-linked chronic granulomatous disease: incidence and autoimmune serology. Cale CM, Morton L (CGDS funded nurse) and Goldblatt D. Clin Exp Immunol. 2007 Apr;148(1):79-84. Review.
Link: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1868856/?tool=pubmed
Advances in the treatment of Chronic Granulomatous Disease by gene therapy. Ott MG, Seger R, Stein S, Siler U, Hoelzer D, Grez M. Curr Gene Ther. 2007 Jun;7(3):155-61. Review.
Link: http://www.ncbi.nlm.nih.gov/pubmed/17584034
Progress and prospects: gene therapy clinical trials (part 1). Alexander BL, Ali RR, Alton EW, Bainbridge JW, Braun S, Cheng SH, Flotte TR, Gaspar HB, Grez M, Griesenbach U, Kaplitt MG, Ott MG, Seger R, Simons M, Thrasher AJ, Thrasher AZ, Ylä-Herttuala S. Gene Ther. 2007 Oct;14(20):1439-47. Review. Erratum in: Gene Ther. 2007 Dec;14(24):1754. multiple author names added.
Link: http://www.ncbi.nlm.nih.gov/pubmed/17909539
Liposome-mediated cellular delivery of active gp91(phox). Marques B, Liguori L, Paclet MH, Villegas-Mendéz A, Rothe R, Morel F, Lenormand JL. PLoS One. 2007 Sep 12;2(9):e856.
Link: www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0000856
New insights into the membrane topology of the phagocyte NADPH oxidase: characterization of an anti-gp91-phox conformational monoclonal antibody. Campion Y, Paclet MH, Jesaitis AJ, Marques B, Grichine A, Berthier S, Lenormand JL, Lardy B, Stasia MJ, Morel F. Biochimie. 2007 Sep;89(9):1145-58.
Link: http://www.ncbi.nlm.nih.gov/pubmed/17397983
Lentiviral vectors containing an enhancer-less ubiquitously-acting chromatin opening element (UCOE) provide highly reproducible and stable transgene expression in haematopoietic cells. Zhang F, Thornhill SI, Howe SJ, Ulaganathan M, Scahmbach A, Sinclair J, Kinnon C, Gaspar HB, Antoniou M, Thrasher AJ. Blood.2007 Sep 1;110(5):1448-57.
Link: http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=2629730&tool+pmcentrez
2006
Chronic Granulomatous Disease; fundamental stages in our understanding of CGD. Assari T. Med Immunol. 2006, 21;5:4.
Link: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1592097/?tool=pubmed
Single-cell optical imaging of the phagocyte NADPH oxidase. van Manen HJ, van Bruggen R, Roos D, Otto C. Antioxid Redox Signal. 2006 Sep-Oct;8(9-10):1509-22.
Link: http://www.ncbi.nlm.nih.gov/pubmed/16987007
Raman microscopy of phagocytosis: shedding light on macrophage foam cell formation. H-J van Manen, AA van Apeldoorn, D Roos, C Otto. Proc. SPIE Vol. 6093, 60930I-1, 2006.
New insights into the membrane topology of the phagocyte NADPH oxidase: characterization of an anti-gp91-phox conformational monoclonal antibody.
Campion Y, Paclet MH, Jesaitis AJ, Marques B, Grichine A, Berthier S, Lenormand JL, Lardy B, Stasia MJ, Morel F. Biochimie. 2007 Sep;89(9):1145-58. Epub 2007 Feb 20.
Link: http://www.ncbi.nlm.nih.gov/pubmed/17397983
Impaired neutrophil chemotaxis in Crohn's disease relates to reduced production of chemokines and can be augmented by granulocyte-colony stimulating factor. Harbord MW, Marks DJ, Forbes A, Bloom SL, Day RM, Segal AW. Aliment Pharmacol Ther. 2006 Aug 15;24(4):651-60.
Link: http://www.ncbi.nlm.nih.gov/pubmed/16907898
Gene therapy for chronic granulomatous disease. Stein S, Siler U, Ott MG, Seger R, Grez M. Curr Opin Mol Ther. 2006 Oct;8(5):415-22. Review.
Link: http://www.ncbi.nlm.nih.gov/pubmed/17078383
2005
Failure of SCID-X1 gene therapy in older patients. Thrasher AJ, Hacein-Bey-Abina S, Gaspar HB, Blanche S, Davies EG, Parsley K, Gilmour K, King D, Howe S, Sinclair J, Hue C, Carlier F, von Kalle C, de Saint Basile G, le Deist F, Fischer A, Cavazzana-Calvo M. Blood. 2005 Jun 1;105(11):4255-7.
Link: http://bloodjournal.hematologylibrary.org/content/105/11/4255.long
Single-cell Raman and fluorescence microscopy reveal the association of lipid bodies with phagosomes in leukocytes. van Manen HJ, Kraan YM, Roos D, Otto C. Proc Natl Acad Sci U S A. 2005 Jul 19;102(29):10159-64
Link: www.ncbi.nlm.nih.gov/pmc/articles/PMC1177376/?tool=pubmed
Activation of the phagocyte NADPH oxidase by Rac Guanine nucleotide exchange factors in conjunction with ATP and nucleoside diphosphate kinase. Mizrahi A, Molshanski-Mor S, Weinbaum C, Zheng Y, Hirshberg M, Pick E.
J Biol Chem. 2005 Feb 4;280(5):3802-11. Erratum in: J Biol Chem. 2005 Mar 25;280(12):12064.
Link: http://www.jbc.org/content/280/5/3802.long
Virulence comparisons of Aspergillus nidulans mutants are confounded by the inflammatory response of p47phox-/- mice. Bignell E, Negrete-Urtasun S, Calcagno AM, Arst HN Jr, Rogers T, Haynes K. Infect Immun. 2005 Aug;73(8):5204-7.
Link: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1201179/?tool=pubmed
How neutrophils kill microbes. Segal AW. Annu Rev Immunol. 2005;23:197-223. Review.
The Aspergillus pH-responsive transcription factor PacC regulates virulence. Bignell E, Negrete-Urtasun S, Calcagno AM, Haynes K, Arst HN Jr, Rogers T. Mol Microbiol. 2005 55(4):1072-84.
Link: http://www.ncbi.nlm.nih.gov/pubmed/15686555
2004
Continuous translocation of Rac2 and the NADPH oxidase component p67(phox) during phagocytosis. Van Bruggen R, Anthony E, Fernandez-Borja M, Roos D. J Biol Chem. 279(10):9097-102, 2004.
Link: www.jbc.org/content/279/10/9097.long
Intracellular chemical imaging of heme-containing enzymes involved in innate immunity using resonance Raman microscopy. van Manen HJ, Kraan YM, Roos D, Otto C. J. Phys. Chem B 108, 18762-18771, 2004.
Gene therapy of X-linked severe combined immunodeficiency by use of a pseudotyped gammaretroviral vector. Gaspar HB, Parsley KL, Howe S, King D, Gilmour KC, Sinclair J, Brouns G, Schmidt M, Von Kalle C, Barington T, Jakobsen MA, Christensen HO, Al Ghonaium A, White HN, Smith JL, Levinsky RJ, Ali RR, Kinnon C, Thrasher AJ. Lancet. 2004 Dec 18-31;364(9452):2181-7.
Link: http://www.ncbi.nlm.nih.gov/pubmed/15610804
Enhancer-deleted retroviral vectors restore high levels of superoxide generation in a mouse model of CGD. Schwickerath O, Brouns G, Thrasher A, Kinnon C, Roes J, Casimir C. J Gene Med. 2004 Jun;6(6):603-15.
Link: http://www.ncbi.nlm.nih.gov/pubmed/15170731
2003
Resonance Raman imaging of the NADPH oxidase subunit cytochrome b558 in single neutrophilic granulocytes. Van Manen H-J, Uzunbajakava Nvan Bruggen R, Roos D, Otto C. J. Am. Chem. Soc. 125: 12112-12113, 2003.
Link: http://www.ncbi.nlm.nih.gov/pubmed/14518995
Raman microscopy of phagocytosis: shedding light on macrophage foam cell formation. van Manen HJ, Uzunbajakava N, van Bruggen R, Roos D, Otto C. J Am Chem Soc. 2003 Oct 8;125(40):12112-3.
Link: http://www.ncbi.nlm.nih.gov/pubmed/14518995
A functional ISRE is required for myeloid transcription of the p47(phox) gene. Marden C, Cunninghame Graham D, Thrasher A, Casimir C. Biochim Biophys Acta. 2003 Nov 30;1630(2-3):117-22.
Link: http://www.ncbi.nlm.nih.gov/pubmed/14654241
Differentiation-dependent up-regulation of p47(phox) gene transcription is associated with changes in PU.1 phosphorylation and increased binding affinity. Marden CM, Stefanidis D, Cunninghame-Graham DS, Casimir CM. Biochem Biophys Res Commun. 2003 May
23;305(1):193-202.
Link: http://www.ncbi.nlm.nih.gov/pubmed/12732216
High-level transduction and gene expression in haematopoietic repopulating cells using a human immunodeficiency virus type-1 based lentiviral vector containing an internal spleen focus forming virus promoter. Demaison C, Parsley K, Brouns G, Scherr M, Battmer K, Kinnon C, Grez M, Thrasher AJ. Human Gene Therapy 2003 13:803-813.
Link: http://www.ncbi.nlm.nih.gov/pubmed/11975847
Association between p47phox pseudogenes and inflammatory bowel disease. Harbord M, Hankin A, Bloom S, Mitchison H. Blood. 2003 Apr 15;101(8):3337.
Link: http://bloodjournal.hematologylibrary.org/content/101/8/3337.long
Diminished production of anti-inflammatory mediators during neutrophil apoptosis and macrophage phagocytosis in chronic granulomatous disease (CGD). Brown JR, Goldblatt D, Buddle J, Morton L, Thrasher AJ. J Leukoc Biol. 2003, 73(5):591-9.
Link: http://www.jleukbio.org/content/73/5/591.long
Reassessment of the microbicidal activity of reactive oxygen species and hypochlorous acid with reference to the phagocytic vacuole of the neutrophil granulocyte. Reeves EP, Nagl M, Godovac-Zimmermann J, Segal AW.J Med Microbiol. 2003 Aug;52(Pt 8):643-51.
Link: http://jmm.sgmjournals.org/content/52/8/643.long
2002
Catalase negative Staphylococcus aureus retain virulence in mouse model of chronic granulomatous disease. Messina CG, Reeves EP, Roes J, Segal AW. FEBS Lett. 2002 May 8;518(1-3):107-10.
Link: http://www.ncbi.nlm.nih.gov/pubmed/11997027
Ym1 is a neutrophil granule protein that crystallizes in p47phox-deficient mice.
Harbord M, Novelli M, Canas B, Power D, Davis C, Godovac-Zimmermann J, Roes J, Segal AW. J Biol Chem. 2002 Feb 15;277(7):5468-75. Epub 2001 Dec 3.
Link: http://www.jbc.org/content/277/7/5468.long
High-level transduction and gene expression in hematopoietic repopulating cells using a human immunodeficiency [correction of imunodeficiency] virus type 1-based lentiviral vector containing an internal spleen focus forming virus promoter. Demaison C, Parsley K, Brouns G, Scherr M, Battmer K, Kinnon C, Grez M, Thrasher AJ. Hum Gene Ther. 2002 May 1;13(7):803-13.
Link: http://www.ncbi.nlm.nih.gov/pubmed/11975847
Mobilization and transduction of CD34(+) peripheral blood stem cells in patients with X-linked chronic granulomatous disease. Ott MG, Merget-Millitzer H, Ottmann OG, Martin H, Brüggenolte N, Bialek H, Seger R, Hossle JP, Hoelzer D, Grez M. J Hematother Stem Cell Res. 2002 Aug;11(4):683-94.
Link: http://www.ncbi.nlm.nih.gov/pubmed/12201957
Gene Therapy of Hematopoietic Stem Cells: Strategies for Improvement. Hossle JP, Seger RA, Steinhoff D. News Physiol Sci 2002 17: 87-92.
Link: http://physiologyonline.physiology.org/content/17/3/87.long
2001
In vivo gene transfer to the mouse eye using an HIV-based lentiviral vector; efficient long-term transduction of corneal endothelium and retinal pigment epithelium. Bainbridge JW, Stephens C, Parsley K, Demaison C, Halfyard A, Thrasher AJ, Ali RR. Gene Ther. 2001 Nov;8(21):1665-8.
Link: http://www.nature.com/gt/journal/v8/n21/full/3301574a.html
Cantharidin blisters: a technique for investigating leukocyte trafficking and cytokine production at sites of inflammation in humans. Day RM, Harbord M, Forbes A, Segal AW. J Immunol Methods. 2001 Nov 1;257(1-2):213-20.
Link: http://www.ncbi.nlm.nih.gov/pubmed/11687254
2000
Protein kinase C-beta contributes to NADPH oxidase activation in neutrophils.
Dekker LV, Leitges M, Altschuler G, Mistry N, McDermott A, Roes J, Segal AW.
Biochem J. 2000 Apr 1;347 Pt 1:285-9.
Link: http://www.biochemj.org/bj/347/0285/bj3470285.htm
Lentivirus-mediated gene transfer of gp91phox corrects chronic granulomatous disease (CGD) phenotype in human X-CGD cells. Saulnier SO, Steinhoff D, Dinauer MC, Zufferey R, Trono D, Seger RA, Hossle JP. J Gene Med. 2000 Sep-Oct;2(5):317-25.
Link: http://www.ncbi.nlm.nih.gov/pubmed/11045425
A defined window for efficient gene marking of severe combined immunodeficient-repopulating cells using a gibbon ape leukemia virus-pseudotyped retroviral vector.Demaison C, Brouns G, Blundell MP, Goldman JP, Levinsky RJ, Grez M, Kinnon C, Thrasher AJ. Hum Gene Ther. 2000 Jan 1;11(1):91-100.
Link: http://www.ncbi.nlm.nih.gov/pubmed/10646642
Chronic granulomatous disease. Goldblatt D, Thrasher AJ. Clin Exp Immunol. 2000 Oct;122(1):1-9. Review.
Link: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1905749/?tool=pubmed
Direct interaction between p47phox and protein kinase C: evidence for targeting of protein kinase C by p47phox in neutrophils. Reeves EP, Dekker LV, Forbes LV, Wientjes FB, Grogan A, Pappin DJ, Segal AW. Biochem J. 1999 Dec 15;344 Pt 3:859-66. Erratum in: Biochem J 2000 Feb 1;345 Pt 3:767.
Link: http://www.biochemj.org/bj/344/0859/bj3440859.htm
1999
Direct interaction between p47phox and protein kinase C: evidence for targeting of protein kinase C by p47phox in neutrophils. Reeves EP, Dekker LV, Forbes LV, Wientjes FB, Grogan A, Pappin DJ, Segal AW. Biochem J. 1999 Dec 15;344 Pt 3:859-66. Erratum in: Biochem J 2000 Feb 1;345 Pt 3:767.
Link: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1220709/?tool=pubmed
Retroviral transduction of quiescent haematopoietic cells using a packaging cell line expressing the membrane-bound form of stem cell factor. Sehgal A, Weeratunge N, Casimir C. Gene Ther. 1999 Jun;6(6):1084-91.
Link: http://www.nature.com/gt/journal/v6/n6/full/3300932a.html
Functional Analysis of the p47phox gene promoter. PhD Thesis, University of London (1999). Marden CM.
1998
Enhanced retroviral transduction of 5-fluorouracil-resistant human bone marrow (stem) cells using a genetically modified packaging cell line. Povey J, Weeratunge N, Marden C, Sehgal A, Thrasher A, Casimir C. Blood. 1998 Dec 1;92(11):4080-9.
Link: http://bloodjournal.hematologylibrary.org/content/92/11/4080.long
High efficiency gene transfer to human hematopoietic SCID-repopulating cells under serum-free conditions. Schilz AJ, Brouns G, Knöss H, Ottmann OG, Hoelzer D, Fauser AA, Thrasher AJ, Grez M. Blood. 1998 Nov 1;92(9):3163-71.
Link: http://bloodjournal.hematologylibrary.org/content/92/9/3163.long
1995
Functional reconstitution of the NADPH-oxidase by adeno-associated virus gene transfer. Thrasher AJ, Casimir CM, Kinnon C, Morgan G, Segal AW, Levinsky RJ. Lancet. 1995 Jul 8;346(8967):92-3.
Link: http://bloodjournal.hematologylibrary.org/content/86/2/761.long
Generation of recombinant adeno-associated virus (rAAV) from an adenoviral vector and functional reconstitution of the NADPH-oxidase. Thrasher AJ, de Alwis M, Casimir CM, Kinnon C, Page K, Lebkowski J, Segal AW, Levinsky RJ. Gene Ther. 1995 Sep;2(7):481-5.
Link: http://www.ncbi.nlm.nih.gov/pubmed/7584126
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