Zobrazeno 1 - 10
of 163
pro vyhledávání: '"H Bobby Gaspar"'
Publikováno v:
Stem Cells and Cloning: Advances and Applications, Vol 2010, Iss default, Pp 1-12 (2009)
Claudia A Montiel-Equihua, Adrian J Thrasher, H Bobby GasparCentre for Immunodeficiency, Molecular Immunology Unit, UCL Institute of Child Health, London, UKAbstract: The history of stem cell gene therapy is strongly linked to the development of gene
Externí odkaz:
https://doaj.org/article/936454d41ea942afac64b7d8188fefc7
Autor:
Claire Booth, H Bobby Gaspar
Publikováno v:
Biologics: Targets & Therapy, Vol 2009, Iss default, Pp 349-358 (2009)
Claire Booth1,2, H Bobby Gaspar1,21Centre for Immunodeficiency, Molecular Immunology Unit, UCL Institute of Child Health, London, UK; 2Dept of Clinical Immunology, Great Ormond Street Hospital NHS Trust, London, UKAbstract: Adenosine deaminase defici
Externí odkaz:
https://doaj.org/article/951c4df78fd143a5b421a262ed2ac31b
Autor:
Umaimainthan Palendira, Carol Low, Anna Chan, Andrew D Hislop, Edwin Ho, Tri Giang Phan, Elissa Deenick, Matthew C Cook, D Sean Riminton, Sharon Choo, Richard Loh, Frank Alvaro, Claire Booth, H Bobby Gaspar, Alessandro Moretta, Rajiv Khanna, Alan B Rickinson, Stuart G Tangye
Publikováno v:
PLoS Biology, Vol 9, Iss 11, p e1001187 (2011)
X-linked lymphoproliferative disease (XLP) is a primary immunodeficiency caused by mutations in SH2D1A which encodes SAP. SAP functions in signalling pathways elicited by the SLAM family of leukocyte receptors. A defining feature of XLP is exquisite
Externí odkaz:
https://doaj.org/article/2f8dac67c92b469bb76a09f459caef5b
Autor:
Giuseppa Piras, Claudia Montiel-Equihua, Yee-Ka Agnes Chan, Slawomir Wantuch, Daniel Stuckey, Derek Burke, Helen Prunty, Rahul Phadke, Darren Chambers, Armando Partida-Gaytan, Diego Leon-Rico, Neelam Panchal, Kathryn Whitmore, Miguel Calero, Sara Benedetti, Giorgia Santilli, Adrian J. Thrasher, H. Bobby Gaspar
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 18, Iss , Pp 558-570 (2020)
Pompe disease is a lysosomal storage disorder caused by malfunctions of the acid alpha-glucosidase (GAA) enzyme with a consequent toxic accumulation of glycogen in cells. Muscle wasting and hypertrophic cardiomyopathy are the most common clinical sig
Externí odkaz:
https://doaj.org/article/228a291921bd422d9b985ca08e819866
Autor:
Laura Garcia-Perez, Marja van Eggermond, Lieke van Roon, Sandra A. Vloemans, Martijn Cordes, Axel Schambach, Michael Rothe, Dagmar Berghuis, Chantal Lagresle-Peyrou, Marina Cavazzana, Fang Zhang, Adrian J. Thrasher, Daniela Salvatori, Pauline Meij, Anna Villa, Jacques J.M. Van Dongen, Jaap-Jan Zwaginga, Mirjam van der Burg, H. Bobby Gaspar, Arjan Lankester, Frank J.T. Staal, Karin Pike-Overzet
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 17, Iss , Pp 666-682 (2020)
Recombinase-activating gene-1 (RAG1)-deficient severe combined immunodeficiency (SCID) patients lack B and T lymphocytes due to the inability to rearrange immunoglobulin and T cell receptor genes. Gene therapy is an alternative for those RAG1-SCID pa
Externí odkaz:
https://doaj.org/article/054d2c31c1974fd68ef81093f23e0c9c
Autor:
Stuart M. Ellison, Aiyin Liao, Shaun Wood, Jessica Taylor, Amir Saam Youshani, Sam Rowlston, Helen Parker, Myriam Armant, Alessandra Biffi, Lucas Chan, Farzin Farzaneh, Rob Wynn, Simon A. Jones, Paul Heal, H. Bobby Gaspar, Brian W. Bigger
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 13, Iss , Pp 399-413 (2019)
Hematopoietic stem cell gene therapy is a promising therapeutic strategy for the treatment of neurological disorders, since transplanted gene-corrected cells can traffic to the brain, bypassing the blood-brain barrier, to deliver therapeutic protein
Externí odkaz:
https://doaj.org/article/600b11bc8c0349f19c29928a25f66440
Publikováno v:
Molecular Therapy. 31:657-675
Lysosomal storage diseases (LSDs) are multisystem inherited metabolic disorders caused by dysfunctional lysosomal enzymes, resulting in the accumulation of undegraded macromolecules in a variety of organs/tissues, including the central nervous system
Autor:
Joseph Topal, Neelam Panchal, Amairelys Barroeta, Anna Roppelt, Annelotte Mudde, H. Bobby Gaspar, Adrian J. Thrasher, Benjamin C. Houghton, Claire Booth
Publikováno v:
Journal of Clinical Immunology. 43:440-451
Background X-linked inhibitor of apoptosis protein (XIAP) deficiency is a severe immunodeficiency with clinical features including hemophagocytic lymphohistiocytosis (HLH) and inflammatory bowel disease (IBD) due to defective NOD2 responses. Manageme
Autor:
Valentina Poletti, Sabine Charrier, Guillaume Corre, Bernard Gjata, Alban Vignaud, Fang Zhang, Michael Rothe, Axel Schambach, H. Bobby Gaspar, Adrian J. Thrasher, Fulvio Mavilio
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 9, Iss , Pp 257-269 (2018)
X-linked severe combined immunodeficiency (SCID-X1) is caused by mutations in the interleukin-2 receptor γ chain gene (IL2RG), and it is characterized by profound defects in T, B, and natural killer (NK) cell functions. Transplantation of hematopoie
Externí odkaz:
https://doaj.org/article/5801774173f54a5ca585e79a225cd4e4
Autor:
A Worth, Helena F. Velasco, Claire Booth, Kanchan Rao, Kai-Ning Cheong, H. Bobby Gaspar, Paul Veys, Alexandra Y. Kreins
Publikováno v:
Journal of Clinical Immunology. 42:94-107
Unconditioned hematopoietic stem cell transplantation (HSCT) is the recommended treatment for patients with adenosine deaminase (ADA)-deficient severe combined immunodeficiency with an HLA-matched sibling donor (MSD) or family donor (MFD). Improved o