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

bioRxiv · Aug 9, 2026 · PreprintPathology

Protein-stabilizing and neurotransmission-potentiating activities of a synaptic chaperone modify spinal muscular atrophy in model mice

Yoon-Ra Her, Andrea Fuentes, Rashmi Kothary, Lucı́a Tabares, Umrao R. Monani

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

bioRxiv · Feb 24, 2026 · PreprintNeuroscience

Translation-specific disruption of Col1a1 expression in multiple models of Spinal Muscular Atrophy can be rescued by Risdiplam.

Gaurav Sharma, Martina Paganin, Yu-Ting Huang, Elena Perenthaler, Ilaria Signoria, Kiterie M. E. Faller, Federica Maniscalco, Cecilia Perrucci, Deborah Donzel, Helena Chaytow, Manuela Basso, Fabio Lauria, Rashmi Kothary, W. Ludo van der Pol, Peter Claus, , Gabriella Viero

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.

bioRxiv · Jun 3, 2025 · PreprintMolecular Biology

Impact of liver-specific survival motor neuron (SMN) depletion on central nervous system and peripheral tissue pathology

Monique Marylin Alves de Almeida, Yves De Repentigny, Sabrina Gagnon, Emma R Sutton, Rashmi Kothary

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.

eLife · Feb 20, 2025Peer-reviewedGenetics

Wnt binding to Coatomer proteins directs secretion on exosomes independently of palmitoylation

Uxía Gurriarán‐Rodríguez, David Datzkiw, Leandro Radusky, Marie E. Esper, Ehsan Javandoost, Fan Xiao, Ming Hong, Solomon Fisher, Alberto Marina, Yves De Repentigny, Rashmi Kothary, Mikel Azkargorta, Félix Elortza, Adriana Lucely Rojas, Luis G. Serrano, , Michael A. Rudnicki

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.

Science Advances · Dec 11, 2024Peer-reviewedMolecular Biology

Differential effect of Fas activation on spinal muscular atrophy motoneuron death and induction of axonal growth

Salim Benlefki, Richard Younes, Désiré Challuau, Nathalie Bernard‐Marissal, Cécile Hilaire, Frédérique Scamps, Mélissa Bowerman, Rashmi Kothary, Bernard Laurent Schneider, Cédric Raoul

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

Cellular and Molecular Biology · Oct 31, 2023Peer-reviewedNeuroscience

Base editing as a genetic treatment for spinal muscular atrophy

Christiano R. R. Alves, Leillani L. Ha, Rebecca Yaworski, Cícera Regina Lazzarotto, Kathleen A. Christie, Aoife Reilly, Ariane Beauvais, Roman M. Doll, Demitri de la Cruz, Casey A. Maguire, Kathryn J. Swoboda, Shengdar Q. Tsai, Rashmi Kothary, Benjamin P. Kleinstiver

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.

bioRxiv · Jan 20, 2023 · PreprintGenetics

Central and peripheral delivery of AAV9-SMN target different pathomechanisms in a mouse model of spinal muscular atrophy

Aoife Reilly, Marc‐Olivier Deguise, Ariane Beauvais, Rebecca Yaworski, Simon Thebault, Daniel R. Tessier, Vincent Tabard‐Cossa, Niko Hensel, Bernard Laurent Schneider, Rashmi Kothary

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

bioRxiv · Nov 8, 2021 · PreprintMolecular Biology