Jan Bert van Klinken

DHDDS-related juvenile parkinsonism is caused by impaired lipid metabolism, glycosylation, and mitochondrial dysfunction, which can be rescued by NAD⁺ treatment.

This study identifies mitochondrial dysfunction and metabolic impairments in DHDDS-related juvenile parkinsonism and shows that NMN treatment improves symptoms in patient-derived organoids and clinical cases.

Integrated Multi-Omics Mapping of Mitochondrial Dysfunction and Substrate Preference in Barth Syndrome Cardiac Tissue

This study analyzes heart tissue from BTHS patients using integrated omics to identify metabolic and mitochondrial changes associated with the disease.

Tracer-based lipidomics identifies novel disease-specific biomarkers in mitochondrial β-oxidation disorders

The paper uses tracer-based lipidomics to identify two new disease-specific biomarkers for mitochondrial β-oxidation disorders, revealing insights into lipid metabolism and potential diagnostic applications.

Clustered Mendelian Randomization analyses identifies distinct and opposing pathways in the causal association between insulin-like growth factor-1 and type 2 diabetes mellitus

This paper uses clustered Mendelian Randomization to identify distinct pathways linking IGF-1 to type 2 diabetes, showing opposing causal effects based on genetic instruments.

Recessive genetic effects on type 2 diabetes-related metabolites in a consanguineous population

The paper identifies recessive genetic variants associated with type 2 diabetes-related metabolites in a consanguineous population.