Muscle‐directed gene therapy corrects Pompe disease and uncovers species‐specific GAA immunogenicity

Autor: Michelle Eggers, Charles H Vannoy, Jianyong Huang, Pravinkumar Purushothaman, Jacqueline Brassard, Carlos Fonck, Hui Meng, Mariah J Prom, Michael W Lawlor, Justine Cunningham, Chanchal Sadhu, Fulvio Mavilio

Publikováno v: EMBO Molecular Medicine, Vol 14, Iss 1, Pp 1-15 (2021)

Abstract Pompe disease is a severe disorder caused by loss of acid α‐glucosidase (GAA), leading to glycogen accumulation in tissues and neuromuscular and cardiac dysfunction. Enzyme replacement therapy is the only available treatment. AT845 is an

Externí odkaz: https://doaj.org/article/35fec66cd46f45f6b1e570648c4fe7cb

A Long-Term Study Evaluating the Effects of Nicorandil Treatment on Duchenne Muscular Dystrophy-Associated Cardiomyopathy in Mice

Autor: Melanie Gartz PhD, MS, MHS, Margaret Haberman BS, Mariah J. Prom BS, Margaret J. Beatka BS, Jennifer L. Strande MD, PhD, Michael W. Lawlor MD, PhD

Publikováno v: Journal of Cardiovascular Pharmacology and Therapeutics, Vol 27 (2022)

Background: Duchenne muscular dystrophy (DMD) is a neuromuscular disease caused by dystrophin gene mutations affecting striated muscle. Due to advances in skeletal muscle treatment, cardiomyopathy has emerged as a leading cause of death. Previously,

Externí odkaz: https://doaj.org/article/df4e0a322cc3431fa3169f7e1a3396ca

Cardiomyocyte-produced miR-339-5p mediates pathology in Duchenne muscular dystrophy cardiomyopathy

Autor: Michael W. Lawlor, Melanie Gartz, Margaret Beatka, Jennifer L. Strande, Mariah J. Prom

Publikováno v: Hum Mol Genet

Duchenne muscular dystrophy (DMD) is an X-linked genetic disease characterized by severe, progressive muscle wasting. Cardiomyopathy has emerged as a leading cause of death in patients with DMD. The mechanisms contributing to DMD cardiac disease rema

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::19a42cdd281e1078cece873e6e0f66c7
https://doi.org/10.1093/hmg/ddab199

The nucleotide prodrug CERC-913 improves mtDNA content in primary hepatocytes from DGUOK-deficient rats

Autor: David Dimmock, Patrick Crutcher, Margaret Beatka, Rebecca A. Slick, Jessica L. Sutton, Hui Meng, Michael W. Lawlor, Daniel Helbling, Mark A. Vanden Avond, Elisa Pileggi, Stephen Thomas, Fabrizio Pertusati, Michaela Serpi, Mariah J. Prom

Publikováno v: Journal of inherited metabolic diseaseREFERENCES. 44(2)

Loss‐of‐function mutations in the deoxyguanosine kinase (DGUOK) gene result in a mitochondrial DNA (mtDNA) depletion syndrome. DGUOK plays an important role in converting deoxyribonucleosides to deoxyribonucleoside monophosphates via the salvage

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1cf26e27b32b490df0dd15a454f8a350
https://pubmed.ncbi.nlm.nih.gov/33368311

Voluntary wheel running complements microdystrophin gene therapy to improve muscle function in mdx mice

Autor: Jean-Baptiste Dupont, Daniel D. Fathalikhani, Haiyan Zhang, Michael W. Lawlor, Justin B. Perry, Ryan P. McMillan, Shelby E. Hamm, Carl Morris, David Brown, J. Patrick Gonzalez, Robert W. Grange, Mark A. Vanden Avond, Katherine E. Bukovec, Kirsten E. Coleman, Suresh Kumar, David L. Mack, Mariah J. Prom, Adele K. Addington

Publikováno v: Molecular Therapy. Methods & Clinical Development
Molecular Therapy: Methods & Clinical Development, Vol 21, Iss, Pp 144-160 (2021)
Molecular Therapy: Methods & Clinical Development, Vol 23, Iss, Pp 460-(2021)

We tested the hypothesis that voluntary wheel running would complement microdystrophin gene therapy to improve muscle function in young mdx mice, a model of Duchenne muscular dystrophy. mdx mice injected with a single dose of AAV9-CK8-microdystrophin

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ba057cbdb449dd60313d69fb46e5d116
https://pubmed.ncbi.nlm.nih.gov/34820472