Ewout J. N. Groen

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 analyzes SMN2 DNA methylation in SMA patients and finds no association with disease severity or treatment response, but identifies age-related methylation changes.

The paper analyzes responses to SMN2 splice-modifying treatments in SMA fibroblasts, finding variability in treatment efficacy based on patient-specific factors.

The paper shows SMN protein binds ribosomes and modulates translation of specific mRNAs in SMA, causing translational defects in motor neuron-related proteins.

riboWaltz optimizes P-site positioning in ribosome profiling data, improving accuracy and visualization of ribosome locations compared to existing tools.

The paper introduces RiboLace, a method to isolate active ribosomes for ribosome profiling, enabling high-resolution analysis of active translation.

The paper identifies early translational defects in SMA mice, showing reduced translational efficiency and ribosome numbers in motor neurons, which are rescued by SMN restoration.