Zobrazeno 1 - 10
of 20
pro vyhledávání: '"Scott Sproul"'
Autor:
Makiko Yasuda, Marshall W. Huston, Silvere Pagant, Lin Gan, Susan St. Martin, Scott Sproul, Daniel Richards, Stephen Ballaron, Khaled Hettini, Annemarie Ledeboer, Lillian Falese, Liching Cao, Yanmei Lu, Michael C. Holmes, Kathleen Meyer, Robert J. Desnick, Thomas Wechsler
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 18, Iss , Pp 607-619 (2020)
Fabry disease is an X-linked lysosomal storage disorder caused by mutations in the alpha-galactosidase A (GLA) gene, which encodes the exogalactosyl hydrolase, alpha-galactosidase A (α-Gal A). Deficient α-Gal A activity results in the progressive,
Externí odkaz:
https://doaj.org/article/3a1b2560e0e74bff987ed750eaa6a03d
Autor:
Daniel Richards, Thomas Wechsler, Khaled Hettini, Lillian Falese, Lin Gan, Michael C. Holmes, Robert J. Desnick, Annemarie Ledeboer, Makiko Yasuda, Kathleen Meyer, Silvere Pagant, Liching Cao, Stephen Ballaron, Yanmei Lu, Scott Sproul, Marshall W. Huston, Susan St Martin
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 18, Iss, Pp 607-619 (2020)
Molecular Therapy. Methods & Clinical Development
Molecular Therapy. Methods & Clinical Development
Fabry disease is an X-linked lysosomal storage disorder caused by mutations in the alpha-galactosidase A (GLA) gene, which encodes the exogalactosyl hydrolase, alpha-galactosidase A (α-Gal A). Deficient α-Gal A activity results in the progressive,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dcfeb821b6fd702f6a044ddc55770e72
http://www.sciencedirect.com/science/article/pii/S2329050120301510
http://www.sciencedirect.com/science/article/pii/S2329050120301510
Autor:
Lin Gan, Silvere Pagant, Robert J. Desnick, Makiko Yasuda, Scott Sproul, Michael C. Holmes, Kathleen Meyer, Marshall W. Huston, Susan St Martin, Luciana Moreira, Thomas Wechsler
Publikováno v:
Molecular therapy : the journal of the American Society of Gene Therapy. 29(11)
Fabry disease, a lysosomal storage disorder resulting from the deficient activity of α-galactosidase A (α-Gal A), is characterized by cardiac, renal, and/or cerebrovascular disease due to progressive accumulation of the enzyme's substrates, globotr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a52c6d34f5cd52319ad061c2a80a4e5f
https://pubmed.ncbi.nlm.nih.gov/33775910
https://pubmed.ncbi.nlm.nih.gov/33775910
Autor:
Susan Tom, Kathleen Meyer, Kelly M. Podetz-Pedersen, Renee Cooksley, Michael C. Holmes, R. Scott McIvor, Russell Dekelver, Brenda Koniar, Michelle Rohde, Kanut Laoharawee, Scott Sproul, Chester B. Whitley, Susan St Martin, Robert Radeke, Li Ou, Yolanda Santiago, Thomas Wechsler, Michelle J. Przybilla
Publikováno v:
Molecular Therapy
Mucopolysaccharidosis type I (MPS I) is a severe disease due to deficiency of the lysosomal hydrolase α-L-iduronidase (IDUA) and the subsequent accumulation of the glycosaminoglycans (GAG), leading to progressive, systemic disease and a shortened li
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::056906ea953e0f6ee7a887c3a7320cdb
http://europepmc.org/articles/PMC6319315
http://europepmc.org/articles/PMC6319315
Autor:
Kanut Laoharawee, R. Scott McIvor, Hoang Oanh Nguyen, Michelle Rohde, Robert Radeke, Tam T Nguyen, Michael C. Holmes, Li Ou, Kelly M. Podetz-Pedersen, Scott Sproul, Thomas Wechsler, Russell Dekelver, Chester B. Whitley, Susan St Martin, Susan Tom, Kathleen Meyer
Publikováno v:
Molecular Therapy
Mucopolysaccharidosis type II (MPS II) is an X-linked recessive lysosomal disorder caused by deficiency of iduronate 2-sulfatase (IDS), leading to accumulation of glycosaminoglycans (GAGs) in tissues of affected individuals, progressive disease, and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::908d268feb85f0ef2ec1b779befa440d
https://doi.org/10.1016/j.ymthe.2018.03.002
https://doi.org/10.1016/j.ymthe.2018.03.002
Autor:
Katherine A. High, Thomas Wechsler, Jeffrey C. Miller, Philip D. Gregory, Edward J. Rebar, Robert J. Davidson, Russell Dekelver, Julianne M. Rieders, Rajiv Sharma, David Paschon, Michael C. Holmes, Yannick Doyon, Scott Sproul, Xavier M. Anguela, David A. Shivak, Shangzhen Zhou
Publikováno v:
Blood. 126:1777-1784
Site-specific genome editing provides a promising approach for achieving long-term, stable therapeutic gene expression. Genome editing has been successfully applied in a variety of preclinical models, generally focused on targeting the diseased locus
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::809efa3e52bee61f9b9c4e0bfc10f14c
https://doi.org/10.1182/blood-2014-12-615492
https://doi.org/10.1182/blood-2014-12-615492
Autor:
Whitley Chester, Kelly Podetz-Perdersen, Thomas Wechsler, Kanut Laoharawee, Li Ou, Robert Radecke, Russell Dekelver, Renee Cooksley, Brenda Koniar, Scott Sproul, Scott McIvor, Michael C. Holmes, Susan Tom, Kathleen Meyer
Publikováno v:
Molecular Genetics and Metabolism. 123:S146-S147
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ce527ed216c77736334a3ed5f46b7805
https://doi.org/10.1016/j.ymgme.2017.12.405
https://doi.org/10.1016/j.ymgme.2017.12.405
Autor:
Silvere Pagant, Thomas Wechsler, Robert J. Desnick, Russell Dekelver, Marshall W. Huston, Makiko Yasuda, Scott Sproul, Susan St Martin, Michael C. Holmes
Publikováno v:
Molecular Genetics and Metabolism. 123:S113
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::868641c2a88b52c76959d017154266f3
https://doi.org/10.1016/j.ymgme.2017.12.302
https://doi.org/10.1016/j.ymgme.2017.12.302
Autor:
Russell Dekelver, Robert J. Desnick, Silvere Pagant, Marshall W. Huston, Makiko Yasuda, Thomas Wechsler, Susan St Martin, Michael C. Holmes, Scott Sproul
Publikováno v:
Molecular Genetics and Metabolism. 123:S68
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1c94faa85feef849163bfe357f681cc9
https://doi.org/10.1016/j.ymgme.2017.12.167
https://doi.org/10.1016/j.ymgme.2017.12.167
Autor:
Susan Tom, R. Scott McIvor, Russell Dekelver, Li Ou, Chester B. Whitley, Michael J. Przybilla, Thomas Wechsler, Robert Radeke, Michael C. Holmes, Kanut Laoharawee, Renee Cooksley, Amy Manning-Bog, Brenda L. Komar, Scott Sproul, Michelle Rohde, Kelly M. Podetz-Pedersen
Publikováno v:
Molecular Therapy. 24:S192-S193
Mucopolysaccharidosis type I (MPS I) is characterized by progressive neurodegeneration, and premature death (
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2a33c6ef708aba0bdbed84d19b71f6dd
https://doi.org/10.1016/s1525-0016(16)33294-4
https://doi.org/10.1016/s1525-0016(16)33294-4