Zobrazeno 1 - 10
of 34
pro vyhledávání: '"Tabatha R. Simmons"'
Autor:
Liubov V. Gushchina, Tatyana A. Vetter, Emma C. Frair, Adrienne J. Bradley, Kelly M. Grounds, Jacob W. Lay, Nianyuan Huang, Aisha Suhaiba, Frederick J. Schnell, Gunnar Hanson, Tabatha R. Simmons, Nicolas Wein, Kevin M. Flanigan
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 30, Iss , Pp 479-492 (2022)
Duchenne muscular dystrophy (DMD) is a devastating muscle-wasting disease that arises due to the loss of dystrophin expression, leading to progressive loss of motor and cardiorespiratory function. Four exon-skipping approaches using antisense phospho
Externí odkaz:
https://doaj.org/article/c58f1dc6613c474f8ea734b55a626d47
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
Autor:
Nicolas Wein, Tatyana A. Vetter, Adeline Vulin, Tabatha R. Simmons, Emma C. Frair, Adrienne J. Bradley, Liubov V. Gushchina, Camila F. Almeida, Nianyuan Huang, Daniel Lesman, Dhanarajan Rajakumar, Robert B. Weiss, Kevin M. Flanigan
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 26, Iss , Pp 279-293 (2022)
Duchenne muscular dystrophy (DMD) is typically caused by mutations that disrupt the DMD reading frame, but nonsense mutations in the 5′ part of the gene induce utilization of an internal ribosomal entry site (IRES) in exon 5, driving expression of
Externí odkaz:
https://doaj.org/article/937ffb28cf15459caaa9793b8cebec7b
Autor:
Tabatha R. Simmons, Tatyana A. Vetter, Nianyuan Huang, Adeline Vulin-Chaffiol, Nicolas Wein, Kevin M. Flanigan
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 21, Iss , Pp 325-340 (2021)
Duchenne muscular dystrophy (DMD) is an X-linked progressive disease characterized by loss of dystrophin protein that typically results from truncating mutations in the DMD gene. Current exon-skipping therapies have sought to treat deletion mutations
Externí odkaz:
https://doaj.org/article/6912488c4ecd404facb01ca8c3e269ec
Autor:
Michelle Eggers, Nicolas Wein, Hemantkumar D Chavan, Kevin M. Flanigan, Adrienne J Bradley, Liubov V Gushchina, Emma C Frair, Hsin-Jung Chou, Megan A. Waldrop, Tabatha R. Simmons, Natalie Rohan
Publikováno v:
Human Gene Therapy. 32:882-894
Therapeutic exon skipping as a treatment for Duchenne muscular dystrophy (DMD) has largely concentrated on the delivery of antisense oligomers to treat out-of-frame exon deletions. Here we report o...
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5e6a19be41010c71837d9b049f88e3ad
https://doi.org/10.1089/hum.2020.286
https://doi.org/10.1089/hum.2020.286
Autor:
Tatyana A. Vetter, Nicolas Wein, Kevin M. Flanigan, Nianyuan Huang, Tabatha R. Simmons, Adeline Vulin-Chaffiol
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 21, Iss, Pp 325-340 (2021)
Duchenne muscular dystrophy (DMD) is an X-linked progressive disease characterized by loss of dystrophin protein that typically results from truncating mutations in the DMD gene. Current exon-skipping therapies have sought to treat deletion mutations
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ffa2b34b7ee11e1bc422a5d6280fa3d
http://www.sciencedirect.com/science/article/pii/S2329050121000541
http://www.sciencedirect.com/science/article/pii/S2329050121000541
Autor:
Roxane Alles, Veronica J. Vieland, Robert B. Weiss, Megan A. Waldrop, John Burian, Paul T. Martin, Kevin M. Flanigan, Sang-Cheol Seok, Diane M. Dunn, Melissa Moore-Clingenpeel, Lindsay N. Alfano, Tabatha R. Simmons
The major determinant of disease severity in patients with severe Duchenne muscular dystrophy (DMD) or milder Becker muscular dystrophy (BMD) is whether their dystrophin gene (DMD) mutation disrupts the mRNA reading frame or allows expression of a pa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::09b1f6360f4a63fecf3342e07518ca40
https://doi.org/10.1101/2021.11.03.21265887
https://doi.org/10.1101/2021.11.03.21265887
Autor:
John Burian, Lindsay N. Alfano, Tabatha R. Simmons, Roxane Alles, Robert B. Weiss, Melissa Moore-Clingenpeel, Diane M. Dunn, Sang-Cheol Seok, Kevin M. Flanigan, Veronica J. Vieland, Paul T. Martin, Megan A. Waldrop
Although the major determinant of disease severity in patients with severe Duchenne muscular dystrophy (DMD) or milder Becker muscular dystrophy (BMD) is whether their dystrophin gene (DMD) mutation disrupts the mRNA reading frame or allows expressio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1bf8e8ccebe283ed9b7285e320376e61
https://doi.org/10.1101/2021.11.03.21265899
https://doi.org/10.1101/2021.11.03.21265899
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:
Liubov V, Gushchina, Emma C, Frair, Natalie, Rohan, Adrienne J, Bradley, Tabatha R, Simmons, Hemantkumar D, Chavan, Hsin-Jung, Chou, Michelle, Eggers, Megan A, Waldrop, Nicolas, Wein, Kevin M, Flanigan
Publikováno v:
Human gene therapy. 32(17-18)
Therapeutic exon skipping as a treatment for Duchenne muscular dystrophy (DMD) has largely concentrated on the delivery of antisense oligomers to treat out-of-frame exon deletions. Here we report on the preclinical development of an adeno-associated
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::95fe550ec7788f1301027bef02b71ee5
https://pubmed.ncbi.nlm.nih.gov/33406986
https://pubmed.ncbi.nlm.nih.gov/33406986