Margaretha Rebecca Heiner-Fokkema

Proteomics profiling of serum and liver in GSD Ia and Ib patients: insights into complication mechanisms and circulation biomarkers

This study uses proteomics to compare serum and liver samples from GSD Ia and Ib patients, identifying subtype-specific biomarkers and pathways linked to disease complications.

Decoding the Glycan Signature: Unraveling N-Glycosylation Alterations in Glycogen Storage Disease Ia and Ib

The paper profiles serum N-glycans in GSD Ia and Ib patients and controls, identifying subtype-specific glycomic alterations and potential biomarkers for disease subtyping and tumor surveillance.

Condensate-Driven Triglyceride Depletion Links alpha-Synuclein to Mitochondrial Dysfunction

This study shows that alpha-synuclein condensation disrupts lipid metabolism, reduces triacylglycerols, and impairs mitochondrial function in C. elegans, with potential therapeutic implications for Parkinson's disease.

Phenylketonuria: modelling cerebral amino acid and neurotransmitter metabolism

This paper develops a computational model of amino acid and neurotransmitter metabolism in PKU to identify therapeutic strategies for improving cognitive function.