Richard J. Rodenburg

This study identifies biallelic UQCC1 variants as a cause of early-onset mitochondrial disease by impairing complex III assembly and function.

This study evaluates long-read genome sequencing in rare disease diagnostics, finding high concordance with standard-of-care tests and incremental diagnostic benefits.

The paper investigates the pathogenic mutation m.10191T>C in mitochondrial DNA, showing it leads to reduced complex I function and NADH accumulation, contributing to Leigh syndrome.

This study identifies bi-allelic XPNPEP3 variants causing mitochondrial disease with pediatric cardiomyopathy, revealing impaired mitochondrial protein processing as the underlying mechanism.

The paper identifies two SIRT5 variants in mitochondrial disease patients that reduce protein stability and activity but not neuropathology, using biochemical and mouse model analyses.

CompaCt integrates complexome profiling data across species to identify conserved and species-specific protein complexes and interactions, improving characterization through comparative analysis.

This paper identifies SMDT1 variants that cause EMRE protein absence and impair mitochondrial calcium uptake in patients with muscle involvement.

The paper identifies biallelic MCAT variants in a patient with combined oxidative phosphorylation deficiency and shows reduced ETC complex subunits and enzyme activities.

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.