Frederik J. Steyn

Site-specific quantification of the in vivo UFMylome reveals myosin modification in ALS

The paper quantifies UFMylation sites in mouse tissues and ALS patient biopsies, finding increased myosin UFMylation in ALS.

Tissue informative cell-free DNA methylation sites in amyotrophic lateral sclerosis

The paper identifies tissue-informative DNA methylation sites in ALS using targeted sequencing and machine learning, showing accurate prediction of disease status and progression.

RNA-seq analysis of skeletal muscle in motor neurone disease cases and controls

The paper performs RNA-seq analysis of skeletal muscle in ALS patients and controls to identify differentially expressed genes and isoform switches associated with motor neuron disease.

Altered skeletal muscle glucose-fatty acid flux in amyotrophic lateral sclerosis (ALS)

This study investigates altered glucose-fatty acid flux in ALS using mouse models and patient-derived myotubes, finding increased fatty acid oxidation linked to slower disease progression but with metabolic heterogeneity across patients.