Zobrazeno 1 - 10
of 39
pro vyhledávání: '"Deborah A, Zygmunt"'
Autor:
Kevin M. Flanigan, Tatyana A. Vetter, Tabatha R. Simmons, Megan Iammarino, Emma C. Frair, Federica Rinaldi, Louis G. Chicoine, Johan Harris, John P. Cheatham, Sharon L. Cheatham, Brian Boe, Megan A. Waldrop, Deborah A. Zygmunt, Davin Packer, Paul T. Martin
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 27, Iss , Pp 47-60 (2022)
In a phase 1/2, open-label dose escalation trial, we delivered rAAVrh74.MCK.GALGT2 (also B4GALNT2) bilaterally to the legs of two boys with Duchenne muscular dystrophy using intravascular limb infusion. Subject 1 (age 8.9 years at dosing) received 2.
Externí odkaz:
https://doaj.org/article/5d4cb4d3fc0f4849bd3ccf973f1e61e1
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 26, Iss , Pp 413-426 (2022)
Lysosomal acid lipase deficiency (LAL-D) presents as one of two rare autosomal recessive diseases: Wolman disease (WD), a severe disorder presenting in infancy characterized by absent or very low LAL activity, and cholesteryl ester storage disease (C
Externí odkaz:
https://doaj.org/article/cd5ce87369f0442fa45d6b329279a144
Autor:
Deborah A. Zygmunt, Rui Xu, Ying Jia, Anna Ashbrook, Chelsea Menke, Guohong Shao, Jung Hae Yoon, Sonia Hamilton, Harshan Pisharath, Brad Bolon, Paul T. Martin
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 15, Iss , Pp 305-319 (2019)
rAAVrh74.MCK.GALGT2 is a surrogate gene therapy that inhibits muscular dystrophy in multiple animal models. Here, we report on a dose-response study of functional muscle GALGT2 expression as well as toxicity and biodistribution studies after systemic
Externí odkaz:
https://doaj.org/article/ff1430f1629a436d9adef9be8a8b3440
Autor:
Paul T Martin, Deborah A Zygmunt, Anna Ashbrook, Sonia Hamilton, Davin Packer, Sharla M Birch, Amanda K Bettis, Cynthia J Balog-Alvarez, Lee-Jae Guo, Peter P Nghiem, Joe N Kornegay
Publikováno v:
PLoS ONE, Vol 16, Iss 3, p e0248721 (2021)
We have examined the effects of intravenous (IV) delivery of rAAVrh74.MHCK7.GALGT2 in the golden retriever muscular dystrophy (GRMD) model of Duchenne Muscular Dystrophy (DMD). After baseline testing, GRMD dogs were treated at 3 months of age and rea
Externí odkaz:
https://doaj.org/article/8daea8ae30e441fc877a6ae566d3dfd6
Autor:
Rui Xu, Ying Jia, Deborah A. Zygmunt, Megan L. Cramer, Kelly E. Crowe, Guohong Shao, Agatha E. Maki, Haley N. Guggenheim, Benjamin C. Hood, Danielle A. Griffin, Ellyn Peterson, Brad Bolon, John P. Cheatham, Sharon L. Cheatham, Kevin M. Flanigan, Louise R. Rodino-Klapac, Louis G. Chicoine, Paul T. Martin
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 10, Iss , Pp 89-104 (2018)
Recombinant adeno-associated virus (rAAV)rh74.MCK.GALGT2 is a muscle-specific gene therapy that is being developed to treat forms of muscular dystrophy. Here we report on an isolated limb infusion technique in a non-human primate model, where hindlim
Externí odkaz:
https://doaj.org/article/f9bc6cfb8158407cb2dff2b604340149
Autor:
Kelly E. Crowe, Ajit Varki, Jonathan Okerblom, Paul T. Martin, Kunio Kawanishi, Paul M.L. Janssen, Annie N. Samraj, Bethannie Golden, Hai Yu, Xi Chen, Agatha E. Maki, Deborah A. Zygmunt, Anna Ashbrook, Sandra Diaz
Publikováno v:
Am J Pathol
Humans cannot synthesize the common mammalian sialic acid N-glycolylneuraminic acid (Neu5Gc) because of an inactivating deletion in the cytidine-5'-monophospho-(CMP)–N-acetylneuraminic acid hydroxylase (CMAH) gene responsible for its synthesis. Hum
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b17b76375233d71008c0a68c8722c38f
https://doi.org/10.1016/j.ajpath.2021.04.015
https://doi.org/10.1016/j.ajpath.2021.04.015
Autor:
Kevin M, Flanigan, Tatyana A, Vetter, Tabatha R, Simmons, Megan, Iammarino, Emma C, Frair, Federica, Rinaldi, Louis G, Chicoine, Johan, Harris, John P, Cheatham, Sharon L, Cheatham, Brian, Boe, Megan A, Waldrop, Deborah A, Zygmunt, Davin, Packer, Paul T, Martin
Publikováno v:
Molecular therapy. Methodsclinical development. 27
In a phase 1/2, open-label dose escalation trial, we delivered rAAVrh74.MCK.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::df1ab05d52fafd3eb7edbd550bd3b3be
https://pubmed.ncbi.nlm.nih.gov/36186954
https://pubmed.ncbi.nlm.nih.gov/36186954
Autor:
Satoru Noguchi, Kelly E. Crowe, Deborah A. Zygmunt, Louise R. Rodino-Klapac, Kristin N. Heller, Ichizo Nishino, Paul T. Martin
Publikováno v:
Journal of neuromuscular diseases. 9(1)
Background GNE myopathy (GNEM) is a rare, adult-onset, inclusion body myopathy that results from partial loss of function mutations in the GNE gene. GNE encodes UDP-GlcNAc epimerase/Mannose-6 kinase, a protein with two enzymatic activities that compr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f44802cc85cdf8b87c323aeb0ea0195
https://pubmed.ncbi.nlm.nih.gov/34511508
https://pubmed.ncbi.nlm.nih.gov/34511508
Autor:
Sonia Hamilton, Harshan Pisharath, Rui Xu, Brad Bolon, Jung Hae Yoon, Ying Jia, Anna Ashbrook, Guohong Shao, Paul T. Martin, Deborah A. Zygmunt, Chelsea Menke
Publikováno v:
Molecular Therapy. Methods & Clinical Development
Molecular Therapy: Methods & Clinical Development, Vol 15, Iss, Pp 305-319 (2019)
Molecular Therapy: Methods & Clinical Development, Vol 15, Iss, Pp 305-319 (2019)
rAAVrh74.MCK.GALGT2 is a surrogate gene therapy that inhibits muscular dystrophy in multiple animal models. Here, we report on a dose-response study of functional muscle GALGT2 expression as well as toxicity and biodistribution studies after systemic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::965806a943ddcb4ec92fc201a2ab0f86
http://europepmc.org/articles/PMC6923506
http://europepmc.org/articles/PMC6923506
Publikováno v:
Molecular Therapy. 27:636-649
Dilated cardiomyopathy is a common cause of death in patients with Duchenne muscular dystrophy (DMD). Gene therapies for DMD must, therefore, have a therapeutic impact in cardiac as well as skeletal muscles. Our previous studies have shown that GALGT
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0653a1a025cf19d02de4f5b11a8669eb
https://doi.org/10.1016/j.ymthe.2019.01.005
https://doi.org/10.1016/j.ymthe.2019.01.005