Search Results - "Simmons, Tabatha R"

Pre-clinical dose-escalation studies establish a therapeutic range for U7snRNA-mediated DMD exon 2 skipping by Simmons, Tabatha R., Vetter, Tatyana A., Huang, Nianyuan, Vulin-Chaffiol, Adeline, Wein, Nicolas, Flanigan, Kevin M.

“…Duchenne muscular dystrophy (DMD) is an X-linked progressive disease characterized by loss of dystrophin protein that typically results from truncating…”
Get full text

Systemic delivery of an AAV9 exon-skipping vector significantly improves or prevents features of Duchenne muscular dystrophy in the Dup2 mouse by Wein, Nicolas, Vetter, Tatyana A., Vulin, Adeline, Simmons, Tabatha R., Frair, Emma C., Bradley, Adrienne J., Gushchina, Liubov V., Almeida, Camila F., Huang, Nianyuan, Lesman, Daniel, Rajakumar, Dhanarajan, Weiss, Robert B., Flanigan, Kevin M.

“…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…”
Get full text

Systemic PPMO-mediated dystrophin expression in the Dup2 mouse model of Duchenne muscular dystrophy by Gushchina, Liubov V., Vetter, Tatyana A., Frair, Emma C., Bradley, Adrienne J., Grounds, Kelly M., Lay, Jacob W., Huang, Nianyuan, Suhaiba, Aisha, Schnell, Frederick J., Hanson, Gunnar, Simmons, Tabatha R., Wein, Nicolas, Flanigan, Kevin M.

“…Duchenne muscular dystrophy (DMD) is a devastating muscle-wasting disease that arises due to the loss of dystrophin expression, leading to progressive loss of…”
Get full text

A first-in-human phase I/IIa gene transfer clinical trial for Duchenne muscular dystrophy using rAAVrh74.MCK.GALGT2 by Flanigan, Kevin M., Vetter, Tatyana A., Simmons, Tabatha R., Iammarino, Megan, Frair, Emma C., Rinaldi, Federica, Chicoine, Louis G., Harris, Johan, Cheatham, John P., Cheatham, Sharon L., Boe, Brian, Waldrop, Megan A., Zygmunt, Deborah A., Packer, Davin, Martin, Paul T.

“…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…”
Get full text

The ZZ Domain of Dystrophin in DMD: Making Sense of Missense Mutations by Vulin, Adeline, Wein, Nicolas, Strandjord, Dana M., Johnson, Eric K., Findlay, Andrew R., Maiti, Baijayanta, Howard, Michael T., Kaminoh, Yuuki J., Taylor, Laura E., Simmons, Tabatha R., Ray, Will C., Montanaro, Federica, Ervasti, Jim M., Flanigan, Kevin M.

“…ABSTRACT Duchenne muscular dystrophy (DMD) is associated with the loss of dystrophin, which plays an important role in myofiber integrity via interactions with…”
Get full text

Lack of Toxicity in Nonhuman Primates Receiving Clinically Relevant Doses of an AAV9.U7snRNA Vector Designed to Induce DMD Exon 2 Skipping by Gushchina, Liubov V, Frair, Emma C, Rohan, Natalie, Bradley, Adrienne J, Simmons, Tabatha R, Chavan, Hemantkumar D, Chou, Hsin-Jung, Eggers, Michelle, Waldrop, Megan A, Wein, Nicolas, Flanigan, Kevin M

“…Therapeutic exon skipping as a treatment for Duchenne muscular dystrophy (DMD) has largely concentrated on the delivery of antisense oligomers to treat…”
Get more information

A genome-wide association analysis of loss of ambulation in dystrophinopathy patients suggests multiple candidate modifiers of disease severity by Flanigan, Kevin M, Waldrop, Megan A, Martin, Paul T, Alles, Roxane, Dunn, Diane M, Alfano, Lindsay N, Simmons, Tabatha R, Moore-Clingenpeel, Melissa, Burian, John, Seok, Sang-Cheol, Weiss, Robert B, Vieland, Veronica J

“…The major determinant of disease severity in Duchenne muscular dystrophy (DMD) or milder Becker muscular dystrophy (BMD) is whether the dystrophin gene (DMD)…”
Get full text

The first exon duplication mouse model of Duchenne muscular dystrophy: A tool for therapeutic development by Vulin, Adeline, Wein, Nicolas, Simmons, Tabatha R, Rutherford, Andrea M, Findlay, Andrew R, Yurkoski, Jacqueline A, Kaminoh, Yuuki, Flanigan, Kevin M

“…Highlights • Exon 2 duplication is the most frequent exonic duplication associated with DMD. • We created the 1st mouse carrying an exon duplication developing…”
Get full text

Increasing genotype-phenotype model determinism: application to bivariate reading/language traits and epistatic interactions in language-impaired families by Simmons, Tabatha R, Flax, Judy F, Azaro, Marco A, Hayter, Jared E, Justice, Laura M, Petrill, Stephen A, Bassett, Anne S, Tallal, Paula, Brzustowicz, Linda M, Bartlett, Christopher W

“…While advances in network and pathway analysis have flourished in the era of genome-wide association analysis, understanding the genetic mechanism of…”
Get more information

328. Proof-of-Principle Study Shows Efficient Skipping of Exon 2 Using Antisense Morpholino Oligomers by Simmons, Tabatha R., Wein, Nicolas, Gumienny, Felecia, Huang, Hannah, Flanigan, Kevin M.

Get full text

624. A Single Neonatal Delivery of an Exon 2 Directed AAV9.U7snRNA Vector Results in Long-Term Dystrophin Expression That Prevents Pathologic Features in the Dup2 Mouse by Wein, Nicolas, Simmons, Tabatha R., Gumienny, Felecia, Yurkoski, Jacqueline, Huang, Nianyuan, Muntoni, Francesco, Flanigan, Kevin M.

Get full text

A first-in-human phase I/IIa gene transfer clinical trial for Duchenne muscular dystrophy using rAAVrh74.MCK. GALGT2 by Flanigan, Kevin M, Vetter, Tatyana A, Simmons, Tabatha R, Iammarino, Megan, Frair, Emma C, Rinaldi, Federica, Chicoine, Louis G, Harris, Johan, Cheatham, John P, Cheatham, Sharon L, Boe, Brian, Waldrop, Megan A, Zygmunt, Deborah A, Packer, Davin, Martin, Paul T

“…In a phase 1/2, open-label dose escalation trial, we delivered rAAVrh74.MCK. (also ) bilaterally to the legs of two boys with Duchenne muscular dystrophy using…”
Get full text

505. Treatment of DMD 5’ Mutations Through Two Different exon2 Skipping Strategies: Intramuscular Delivery of rAAV9.snRNA Mediated Skipping and Antisense Morpholino Oligomers by Simmons, Tabatha R., Wein, Nicolas, Vulin-Chaffiol, Adeline, Heller, Kristin, Rutherford, Andrea, Rodino-Klapac, Louise, Flanigan, Kevin M.

Get full text