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
Brigham and Women's HospitalORCID 0000-0002-4057-8451Unclaimed ORCID profile · follow to get notified of new preprints
9 papers
Recent·Most cited
Grace Ruth Tate, Joanna McNulty, Jeffrey J. Widrick, Vandana Gupta
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.
Sarah E Sandkuhler, Kayla S Youngs, O. Gottipalli…·Samuel Mackenzie
This study re-examines the role of TANGO2 homologs in C. elegans and finds that phenotypes previously linked to heme transport may instead reflect mitochondrial dysfunction and oxidative stress.
Jennifer G. Casey, Euri S Kim, Brian S. Tao…·Vandana Gupta
This study identifies glycerolipid defects in skeletal muscle as a contributor to rhabdomyolysis in Tango2 deficiency using a zebrafish model.
Qiyan Mao, Achyuth Acharya, Alejandra Rodríguez‐delaRosa…·Frank Schnorrer
This study shows that mechanical tension drives multi-scale self-organisation in human iPSC-derived muscle fibers by coordinating sarcomere assembly and myofiber bundling.
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.
Caroline Jirka, Jasmine H Pak, Claire A Grosgogeat…·Vandana Gupta
This study identifies KLHL41's role in regulating NRAP degradation during skeletal muscle development, showing that its dysfunction contributes to nemaline myopathy pathology.
J. Velilla, Michael Mario Marchetti, Ágnes Tóth-Petróczy…·Vandana Gupta
This study identifies a homozygous TRPV4 mutation as a cause of congenital spinal muscular atrophy and arthrogryposis through whole exome sequencing and functional analysis.
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.