Benjamin L. Prosser

This study identifies ROR2 as a driver of right ventricular failure by disrupting proteostasis, showing that modulating ROR2 can rescue structural and functional deficits in cardiomyocytes.

The paper identifies six patients with biallelic IRAK4 variants causing severe neurological autoinflammation without immunodeficiency, expanding the known phenotype of IRAK4-related disease.

This study shows that cardiac microtubules regulate t-tubule formation and maintenance through BIN1-CLIP-170 and dynein mechanisms, impacting Ca handling and contractile function.

This study investigates how pathogenic KIF1A variants affect axonal trafficking and synaptic development in human neurons using gene-edited iPSCs.

The paper develops humanized mouse models for SYNGAP1 and STXBP1 disorders, showing similar electrophysiological and behavioral abnormalities in mice and patients, and demonstrates the efficacy of antisense oligonucleotides in modulating SYNGAP1 expression.

This study identifies heterogeneous mTORC1 activity and a novel ERK-dependent pathway driving 4EBP1 phosphorylation in cardiomyocytes during hypertrophy, revealing dual translational control mechanisms.

This study identifies active transport of tRNAs via endolysosomal vesicles in large cells, showing that LeuRS facilitates this process and its disruption impairs protein synthesis and cell size.

This paper demonstrates that CRISPR-mediated transcriptional activation can upregulate SYNGAP1 in a mouse model of SRID and human neurons, rescuing deficits without targeting mutations.

This study shows that microtubule forces, not the LINC complex, drive nuclear damage in LMNA cardiomyopathy and that disrupting microtubules can rescue cardiac function.

This study examines changes in organelle apposition in human heart failure cardiomyocytes, finding increased distances between mitochondria and sarcoplasmic reticulum/lipid droplets, along with altered molecular tethers.

This study uses single-molecule imaging to show ERK-dependent spatial regulation of translation in cardiomyocytes, with translation sites near Z-lines and dynamic movement along microtubules.

This study outlines the longitudinal epilepsy and developmental trajectories in STXBP1-related disorders using clinical and standardized assessments, revealing subgroup differences and informing future therapeutic strategies.

The paper investigates how the tubulin code is rewritten during cardiac hypertrophy and failure through transcriptional, autoregulatory, and post-translational mechanisms.