Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Diego Leon-Rico"'
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:
Cristina Mesa-Núñez, Diego Leon-Rico, Montserrat Aldea, Carlos Damián, Raquel Sanchez-Baltasar, Rebeca Sanchez, Omaira Alberquilla, José Carlos Segovia, Juan Antonio Bueren, Elena Almarza
Publikováno v:
Stem Cell Research & Therapy, Vol 11, Iss 1, Pp 1-9 (2020)
Abstract Background CD18 is the common beta subunit of β2 integrins, which are expressed on hematopoietic cells. β2 integrins are essential for cell adhesion and leukocyte trafficking. Methods Here we have analyzed the expression of CD18 in differe
Externí odkaz:
https://doaj.org/article/78847a9577544b7098f4252a48c057e3
Autor:
Hubert B. Gaspar, Giuseppa Piras, Karen F. Buckland, Sara Benedetti, Giorgia Santilli, Adrian J. Thrasher, Michael Rothe, Diego Leon-Rico, Michael Ashworth, Narda Theobald, Winston Vetharoy, Elena Armenteros-Monterroso, Uimook Choi, Harry L. Malech, Elizabeth M. Kang, Christine Rivat, Axel Schambach, Andrea Schejtman
Publikováno v:
Human Gene Therapy
Chronic granulomatous disease (CGD) is an inherited blood disorder of phagocytic cells that renders patients susceptible to infections and inflammation. A recent clinical trial of lentiviral gene therapy for the most frequent form of CGD, X-linked, h
Autor:
Donald B. Kohn, Claire Booth, Kit L. Shaw, Jinhua Xu-Bayford, Elizabeth Garabedian, Valentina Trevisan, Denise A. Carbonaro-Sarracino, Kajal Soni, Dayna Terrazas, Katie Snell, Alan Ikeda, Diego Leon-Rico, Theodore B. Moore, Karen F. Buckland, Ami J. Shah, Kimberly C. Gilmour, Satiro De Oliveira, Christine Rivat, Gay M. Crooks, Natalia Izotova, John Tse, Stuart Adams, Sally Shupien, Hilory Ricketts, Alejandra Davila, Chilenwa Uzowuru, Amalia Icreverzi, Provaboti Barman, Beatriz Campo Fernandez, Roger P. Hollis, Maritess Coronel, Allen Yu, Krista M. Chun, Christian E. Casas, Ruixue Zhang, Serena Arduini, Frances Lynn, Mahesh Kudari, Andrea Spezzi, Marco Zahn, Rene Heimke, Ivan Labik, Roberta Parrott, Rebecca H. Buckley, Lilith Reeves, Kenneth Cornetta, Robert Sokolic, Michael Hershfield, Manfred Schmidt, Fabio Candotti, Harry L. Malech, Adrian J. Thrasher, H. Bobby Gaspar
Publikováno v:
N Engl J Med
The New England journal of medicine, vol 384, iss 21
The New England journal of medicine, vol 384, iss 21
BACKGROUND: Severe combined immunodeficiency due to adenosine deaminase (ADA) deficiency (ADA-SCID) is a rare and life-threatening primary immunodeficiency. METHODS: We treated 50 patients with ADA-SCID (30 in the United States and 20 in the United K
Autor:
Helen Prunty, Derek Burke, Neelam Panchal, D. Chambers, Diego Leon-Rico, Slawomir Wantuch, Giorgia Santilli, Daniel J. Stuckey, Rahul Phadke, Sara Benedetti, Yee-Ka Agnes Chan, Claudia A. Montiel-Equihua, Adrian J. Thrasher, Miguel Calero, Kathryn Victoria Whitmore, Armando Partida-Gaytán, Giuseppa Piras, H. Bobby Gaspar
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 18, Iss, Pp 558-570 (2020)
Molecular Therapy. Methods & Clinical Development
Molecular Therapy. Methods & Clinical Development
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
Autor:
Georges Blattner, Fang Zhang, Winston Vetharoy, Marianna Romito, Adrian J. Thrasher, Elizabeth Rivers, Dariusz Ladon, Marta Zinicola, Diego Leon-Rico, Rajeev Rai, Giandomenico Turchiano, Giorgia Santilli, Geoffroy Andrieux, Alessia Cavazza
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-15 (2020)
Nature Communications
Nature Communications
Wiskott-Aldrich syndrome (WAS) is an X-linked primary immunodeficiency with severe platelet abnormalities and complex immunodeficiency. Although clinical gene therapy approaches using lentiviral vectors have produced encouraging results, full immune
Autor:
Juan A. Bueren, Carlos Damián, Elena Almarza, Cristina Mesa-Núñez, Rebeca Sanchez, Omaira Alberquilla, Diego Leon-Rico, José C. Segovia, Raquel Sanchez-Baltasar, Montserrat Aldea
Publikováno v:
Stem Cell Research & Therapy
Stem Cell Research & Therapy, Vol 11, Iss 1, Pp 1-9 (2020)
Stem Cell Research & Therapy, Vol 11, Iss 1, Pp 1-9 (2020)
Background CD18 is the common beta subunit of β2 integrins, which are expressed on hematopoietic cells. β2 integrins are essential for cell adhesion and leukocyte trafficking. Methods Here we have analyzed the expression of CD18 in different subset
Autor:
Natalia Izotova, Geraldine Honnet, Myriam Armant, Luca Biasco, Giorgia Santilli, Christopher A. Bauser, Katie Snell, Suk See De Ravin, Karen F. Buckland, Emma C. Morris, Morna J. Dorsey, Peter E. Newburger, Jinan Darwish, Christine Rivat, Diego Leon-Rico, David A. Williams, Adrian J. Thrasher, Kit L. Shaw, Kimberly Gilmour, Sung-Yun Pai, Leo D. Wang, Donald B. Kohn, Tobias Paprotka, John R. Gregg, Claire Booth, Harry L. Malech, Uimook Choi, Caroline Y. Kuo, Elizabeth M. Kang, Manuel Grez, Jinhua Xu-Bayford Dip, Douglas B. Kuhns, John K. Everett, H. Bobby Gaspar, Frederic D. Bushman, Hayley Raymond, Anne Galy, Dayna Terrazas
Publikováno v:
Nature medicine, vol 26, iss 2
Nature Medicine
Nature Medicine, Nature Publishing Group, 2020, ⟨10.1038/s41591-019-0735-5⟩
Nature Medicine, 2020, ⟨10.1038/s41591-019-0735-5⟩
Nat Med
Nature Medicine
Nature Medicine, Nature Publishing Group, 2020, ⟨10.1038/s41591-019-0735-5⟩
Nature Medicine, 2020, ⟨10.1038/s41591-019-0735-5⟩
Nat Med
Chronic granulomatous disease (CGD) is a rare inherited disorder of phagocytic cells1,2. We report the initial results of nine severely affected X-linked CGD (X-CGD) patients who received ex vivo autologous CD34+ hematopoietic stem and progenitor cel
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7cfc100375d6c5f54fdce1801ee6c80b
https://escholarship.org/uc/item/7b61w03m
https://escholarship.org/uc/item/7b61w03m
Autor:
Simon Jones, Brian W. Bigger, Karen F. Buckland, Jane Louise Kinsella, Heather J. Church, Diego Leon-Rico, Ceri Jones, Robert Wynn, Wendy Ogden, Christine Rivat, Frits A. Wijburg, Fred M. Vaz, Adrian J. Thrasher, Katie Snell
Publikováno v:
Molecular Genetics and Metabolism. 129:S90