Publications by authors named "Deborah A Zygmunt"

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deletion in adult mice can cause thrombocytopenia, anemia, myopathy, bleeding, and death.
Patricia Lam, Deborah A Zygmunt, Macey Bennett, Anna Ashbrook, Jessica Hefty

J Neuromuscul Dis· December 2025

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Liver-directed AAV gene therapy normalizes disease symptoms and provides cross-correction in a model of lysosomal acid lipase deficiency.
Patricia Lam, Deborah A Zygmunt, Anna Ashbrook, Cong Yan, Hong Du

Mol Ther· December 2024

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Dual FKRP/FST gene therapy normalizes ambulation, increases strength, decreases pathology, and amplifies gene expression in LGMDR9 mice.
Patricia Lam, Deborah A Zygmunt, Anna Ashbrook, Macey Bennett, Tatyana A Vetter

Mol Ther· August 2024

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Development of Assays to Measure GNE Gene Potency and Gene Replacement in Skeletal Muscle.
Deborah A Zygmunt, Patricia Lam, Anna Ashbrook, Katherine Koczwara, Angela Lek

J Neuromuscul Dis· September 2023

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A first-in-human phase I/IIa gene transfer clinical trial for Duchenne muscular dystrophy using rAAVrh74.MCK..
Kevin M Flanigan, Tatyana A Vetter, Tabatha R Simmons, Megan Iammarino, Emma C Frair, Deborah A Zygmunt

Mol Ther Methods Clin Dev· December 2022

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Therapeutic efficacy of rscAAVrh74.miniCMV. gene therapy in a mouse model of lysosomal acid lipase deficiency.
Patricia Lam, Anna Ashbrook, Deborah A Zygmunt, Cong Yan, Hong Du

Mol Ther Methods Clin Dev· September 2022

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Visualizing Muscle Sialic Acid Expression in the GNED207VTgGne-/- Cmah-/- Model of GNE Myopathy: A Comparison of Dietary and Gene Therapy Approaches.
Kelly E Crowe, Deborah A Zygmunt, Kristin Heller, Louise Rodino-Klapac, Satoru Noguchi

J Neuromuscul Dis· February 2022

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Short-term treatment of golden retriever muscular dystrophy (GRMD) dogs with rAAVrh74.MHCK7.GALGT2 induces muscle glycosylation and utrophin expression but has no significant effect on muscle strength.
Paul T Martin, Deborah A Zygmunt, Anna Ashbrook, Sonia Hamilton, Davin Packer

PLoS One· October 2021

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Serum Antibodies to N-Glycolylneuraminic Acid Are Elevated in Duchenne Muscular Dystrophy and Correlate with Increased Disease Pathology in Cmahmdx Mice.
Paul T Martin, Kunio Kawanishi, Anna Ashbrook, Bethannie Golden, Annie Samraj, Deborah A Zygmunt

Am J Pathol· August 2021

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rAAVrh74.MCK. Demonstrates Safety and Widespread Muscle Glycosylation after Intravenous Delivery in C57BL/6J Mice.
Deborah A Zygmunt, Rui Xu, Ying Jia, Anna Ashbrook, Chelsea Menke

Mol Ther Methods Clin Dev· December 2019

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Expansion of B4GALT7 linkeropathy phenotype to include perinatal lethal skeletal dysplasia.
Theresa Mihalic Mosher, Deborah A Zygmunt, Daniel C Koboldt, Benjamin J Kelly, Lisa R Johnson

Eur J Hum Genet· October 2019

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rAAVrh74.MCK.GALGT2 Protects against Loss of Hemodynamic Function in the Aging mdx Mouse Heart.
Rui Xu, Ying Jia, Deborah A Zygmunt, Paul T Martin

Mol Ther· March 2019

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An Isolated Limb Infusion Method Allows for Broad Distribution of rAAVrh74.MCK. to Leg Skeletal Muscles in the Rhesus Macaque.
Rui Xu, Ying Jia, Deborah A Zygmunt, Megan L Cramer, Kelly E Crowe

Mol Ther Methods Clin Dev· September 2018

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Comparison of Serum rAAV Serotype-Specific Antibodies in Patients with Duchenne Muscular Dystrophy, Becker Muscular Dystrophy, Inclusion Body Myositis, or GNE Myopathy.
Deborah A Zygmunt, Kelly E Crowe, Kevin M Flanigan, Paul T Martin

Hum Gene Ther· September 2017

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Deletion of in Mouse Skeletal Myofibers Induces Muscle Aging-Related Phenotypes in and in .
Deborah A Zygmunt, Neha Singhal, Mi-Lyang Kim, Megan L Cramer, Kelly E Crowe

Mol Cell Biol· May 2017

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