KLHL40 gene replacement therapy in severe nemaline myopathy improves survival and skeletal muscle function in a preclinical mouse model
Grace Ruth Tate, Joanna McNulty, Jeffrey J. Widrick, Vandana Gupta
Author
Boston Children's HospitalORCID 0000-0002-5597-1141Unclaimed ORCID profile · follow to get notified of new preprints
10 papers
Recent·Most cited
Grace Ruth Tate, Joanna McNulty, Jeffrey J. Widrick, Vandana Gupta
M. Kim, Kathryn M. Yammine, Emily T Hickey…·Alan H. Beggs
This paper presents a mouse model of ADSS1 myopathy by knocking out Adss1 and characterizes its motor deficits and histopathological features.
Felipe de Souza Leite, Matthias R. Lambert, Tracy Zhang…·Louis M. Kunkel
This study shows that increasing JAG1 expression in dystrophin-deficient mice improves muscle size, strength, and myofiber number.
Jeffrey J. Widrick, Matthias R. Lambert, Felipe de Souza Leite…·Louis M. Kunkel
This paper develops a high-resolution kinematic method to quantify impaired mobility in dystrophic zebrafish larvae, finding significant differences in swimming performance between mutants and wild-types.
Hyewon Han, Janet Shi, Alfredo H Bongiorno…·Vandana Gupta
This study identifies KLHL41's role in sarcomere assembly and muscle growth in zebrafish models of nemaline myopathy, revealing its importance in myofibril formation and cross-bridge regulation.
Muthukumar Karuppasamy, Katherine G. English, James R. Conner…·Matthew S. Alexander
This study investigates the effects of conditional dystrophin ablation in skeletal muscle and brain, revealing functional deficits and pathway dysregulation in both tissues.
Adrienne Samani, Muthukumar Karuppasamy, Katherine G. English…·Matthew S. Alexander
This study shows that DOCK3 is essential for skeletal muscle regeneration and glucose metabolism, with its loss causing metabolic dysfunction and impaired muscle repair.
Arian Mansur, Remi Joseph, Euri S Kim…·Vandana Gupta
This study identifies KLHL40 as a negative regulator of ER-Golgi trafficking through ubiquitylation, revealing its role in skeletal muscle development and disease.
Rylie M. Hightower, Adrienne Samani, Andrea L. Reid…·Matthew S. Alexander
The paper shows miR-486 is reduced in DMD muscles and its loss causes muscle and cardiac defects, identifying it as a driver of disease and a potential biomarker.
Alexis H. Bennett, Marie-Françoise O’Donohue, Stacey R. Gundry…·Vandana Gupta
This study identifies DDX27 as a regulator of skeletal muscle growth and regeneration by modulating translational processes and ribosome biogenesis in zebrafish.