Zobrazeno 1 - 10
of 61
pro vyhledávání: '"Giorgia, Santilli"'
Autor:
Adrian Westhaus, Steven S. Eamegdool, Milan Fernando, Paula Fuller-Carter, Alicia A. Brunet, Annie L. Miller, Rabab Rashwan, Maddison Knight, Maciej Daniszewski, Grace E. Lidgerwood, Alice Pébay, Alex Hewitt, Giorgia Santilli, Adrian J. Thrasher, Livia S. Carvalho, Anai Gonzalez-Cordero, Robyn V. Jamieson, Leszek Lisowski
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-15 (2023)
Abstract Adeno-associated viral (AAV) vector-mediated retinal gene therapy is an active field of both pre-clinical as well as clinical research. As with other gene therapy clinical targets, novel bioengineered AAV variants developed by directed evolu
Externí odkaz:
https://doaj.org/article/c01c7ea263f948d68832145c2e5bdb19
Autor:
Rajeev Rai, Asma Naseem, Winston Vetharoy, Zohar Steinberg, Adrian J. Thrasher, Giorgia Santilli, Alessia Cavazza
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 29, Iss , Pp 58-69 (2023)
Gene editing has emerged as a powerful tool for the therapeutic correction of monogenic diseases. CRISPR-Cas9 applied to hematopoietic stem and progenitor cells (HSPCs) has shown great promise in proof-of-principle preclinical studies to treat hemato
Externí odkaz:
https://doaj.org/article/6ed43264111a4d30ac2fe0ab9f484c6d
Autor:
Lyra O Randzavola, Paige M Mortimer, Emma Garside, Elizabeth R Dufficy, Andrea Schejtman, Georgia Roumelioti, Lu Yu, Mercedes Pardo, Kerstin Spirohn, Charlotte Tolley, Cordelia Brandt, Katherine Harcourt, Esme Nichols, Mike Nahorski, Geoff Woods, James C Williamson, Shreehari Suresh, John M Sowerby, Misaki Matsumoto, Celio XC Santos, Cher Shen Kiar, Subhankar Mukhopadhyay, William M Rae, Gordon J Dougan, John Grainger, Paul J Lehner, Michael A Calderwood, Jyoti Choudhary, Simon Clare, Anneliese Speak, Giorgia Santilli, Alex Bateman, Kenneth GC Smith, Francesca Magnani, David C Thomas
Publikováno v:
eLife, Vol 11 (2022)
EROS (essential for reactive oxygen species) protein is indispensable for expression of gp91phox, the catalytic core of the phagocyte NADPH oxidase. EROS deficiency in humans is a novel cause of the severe immunodeficiency, chronic granulomatous dise
Externí odkaz:
https://doaj.org/article/1b48b81ab31e44d4a2884318ac761009
Autor:
Pilar Muñoz, María Tristán-Manzano, Almudena Sánchez-Gilabert, Giorgia Santilli, Anne Galy, Adrian J. Thrasher, Francisco Martin
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 19, Iss , Pp 220-235 (2020)
Transplant of gene-modified autologous hematopoietic progenitors cells has emerged as a new therapeutic approach for Wiskott-Aldrich syndrome (WAS), a primary immunodeficiency with microthrombocytopenia and abnormal lymphoid and myeloid functions. De
Externí odkaz:
https://doaj.org/article/949e23b2ad1b461299c6933f817ca5cf
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:
Rajeev Rai, Marianna Romito, Elizabeth Rivers, Giandomenico Turchiano, Georges Blattner, Winston Vetharoy, Dariusz Ladon, Geoffroy Andrieux, Fang Zhang, Marta Zinicola, Diego Leon-Rico, Giorgia Santilli, Adrian J. Thrasher, Alessia Cavazza
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-15 (2020)
In recent years, hematopoietic stem cells gene editing has emerged as a promising tool to treat blood disorders. Here the authors develop a CRISPR/Cas9-based genome editing strategy that allows the precise correction of Wiskott-Aldrich Syndrome in vi
Externí odkaz:
https://doaj.org/article/e93094c9c51f4c1aa746e611fd6ea64c
Autor:
Marti Cabanes-Creus, Adrian Westhaus, Renina Gale Navarro, Grober Baltazar, Erhua Zhu, Anais K. Amaya, Sophia H.Y. Liao, Suzanne Scott, Erwan Sallard, Kimberley L. Dilworth, Arkadiusz Rybicki, Matthieu Drouyer, Claus V. Hallwirth, Antonette Bennett, Giorgia Santilli, Adrian J. Thrasher, Mavis Agbandje-McKenna, Ian E. Alexander, Leszek Lisowski
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 17, Iss , Pp 1139-1154 (2020)
Use of the prototypical adeno-associated virus type 2 (AAV2) capsid delivered unexpectedly modest efficacy in an early liver-targeted gene therapy trial for hemophilia B. This result is consistent with subsequent data generated in chimeric mouse-huma
Externí odkaz:
https://doaj.org/article/192ac1b2202f420f9e1d2c4d0646e77d
Autor:
Marti Cabanes-Creus, Samantha L. Ginn, Anais K. Amaya, Sophia H.Y. Liao, Adrian Westhaus, Claus V. Hallwirth, Patrick Wilmott, Jason Ward, Kimberley L. Dilworth, Giorgia Santilli, Arkadiusz Rybicki, Hiroyuki Nakai, Adrian J. Thrasher, Adrian C. Filip, Ian E. Alexander, Leszek Lisowski
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 12, Iss , Pp 71-84 (2019)
Adeno-associated virus (AAV) vectors have become one of the most widely used gene transfer tools in human gene therapy. Considerable effort is currently being focused on AAV capsid engineering strategies with the aim of developing novel variants with
Externí odkaz:
https://doaj.org/article/e371436ebdb346fc97df68b085539c0c
Publikováno v:
Molecular Diagnosis & Therapy. 27:15-28
In recent years, gene-editing technologies have revolutionised precision medicine, and human trials of this technology have been reported in cell-based cancer therapies and other genetic disorders. The same techniques have the potential to reverse mu
Autor:
Adrian Westhaus, Marti Cabanes-Creus, Timo Jonker, Erwan Sallard, Renina Gale Navarro, Erhua Zhu, Grober Baltazar Torres, Scott Lee, Patrick Wilmott, Anai Gonzalez-Cordero, Giorgia Santilli, Adrian J. Thrasher, Ian E. Alexander, Leszek Lisowski
Publikováno v:
Human Gene Therapy. 33:664-682
The power of adeno-associated viral (AAV)-directed evolution for identifying novel vector variants with improved properties is well established, as evidenced by numerous publications reporting novel AAV variants. However, most capsid variants reporte