David M Cassiman

Four mitochondrial functional tests in fibroblasts show good sensitivity and excellent specificity for diagnosing primary mitochondrial disease.

This study integrates proteomics, transcriptomics, and metabolomics data from IEM patients to identify perturbed protein complexes and pathways, highlighting mitochondrial oxidative phosphorylation and histone acetylation dysregulation.

The paper identifies an intracellular hypoglycosylated form of ADA2 absent in DADA2 patients, linking its absence to reduced deaminase activity and variant pathogenicity.

This study shows that mitochondrial dysfunction in human neurons, caused by high heteroplasmy of the m.3243A>G variant, leads to impaired neural development, reduced synaptic connectivity, and decreased network activity.