Rashmi Kothary

This study examines cardiac pathology in spinal muscular atrophy (SMA) and shows that SMN deficiency causes metabolic and PTEN signaling changes in cardiomyocytes.

This study identifies an Hspa8G470R variant that suppresses SMA in mice by increasing SMN levels and enhancing neuromuscular transmission, suggesting new therapeutic targets.

The paper identifies COL1A1 as a translation-specific biomarker of SMA severity and shows it can be rescued by SMN-restoring therapies in multiple models.

This study investigates the impact of liver-specific SMN depletion in SMA mice, finding no motor neuron pathology but pancreatic changes and transient liver steatosis.

This study identifies the structural mechanism by which Wnt7a binds to exosomes for secretion, showing it is independent of palmitoylation and involves a dilysine motif interacting with COPB2.

The paper develops a protocol combining Tangential Flow Filtration and Size Exclusion Chromatography to isolate high-purity extracellular vesicles from muscle tissue, separating Wnt7a-bound EVs from free Wnt7a.

This study shows Fas activation induces both death and axonal growth in motoneurons, with distinct molecular pathways involved in each response.

This paper describes the optimization of base editing to correct the SMN2 exon 7 mutation in SMA, achieving high editing efficiency and increased SMN protein levels in vitro and in vivo.

The paper compares IV and ICV delivery of AAV9-SMN in SMA mice, showing different SMN restoration patterns and treatment outcomes.