Vandana Gupta

KLHL40 gene replacement therapy in severe nemaline myopathy improves survival and skeletal muscle function in a preclinical mouse model

KLHL41 orchestrates sarcomere assembly and size to drive skeletal muscle hypertrophy in vivo

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.

Glycerolipid defects in skeletal muscle contribute to rhabdomyolysis in Tango2 deficiency

This study identifies glycerolipid defects in skeletal muscle as a contributor to rhabdomyolysis in Tango2 deficiency using a zebrafish model.

Tension-driven multi-scale self-organisation in human iPSC-derived muscle fibers

This study shows that mechanical tension drives multi-scale self-organisation in human iPSC-derived muscle fibers by coordinating sarcomere assembly and myofiber bundling.

Dynamic regulation of inter-organelle communication by ubiquitylation controls skeletal muscle development and disease onset

This study identifies KLHL40 as a negative regulator of ER-Golgi trafficking through ubiquitylation, revealing its role in skeletal muscle development and disease.

Dysregulation of NRAP degradation by KLHL41 contributes to pathophysiology in Nemaline Myopathy

This study identifies KLHL41's role in regulating NRAP degradation during skeletal muscle development, showing that its dysfunction contributes to nemaline myopathy pathology.

Homozygous TRPV4 mutation causes congenital distal spinal muscular atrophy and arthrogryposis

This study identifies a homozygous TRPV4 mutation as a cause of congenital spinal muscular atrophy and arthrogryposis through whole exome sequencing and functional analysis.

RNA helicase, DDX27 regulates skeletal muscle growth and regeneration by modulation of translational processes

This study identifies DDX27 as a regulator of skeletal muscle growth and regeneration by modulating translational processes and ribosome biogenesis in zebrafish.