Irena Josephina Johanna Muffels

Mice with mono-allelic p.R37H Dhdds variant show aberrant glycosylation and interneuron deficits

This study describes a mouse model of DHDDS-CDG, showing seizures, myoclonus, and cognitive deficits linked to glycosylation defects and interneuron abnormalities.

Mitochondrial DNA heteroplasmy drives cortical neuronal disturbances in human organoids harbouring the common m.3243A>G mutation

This study shows that high mitochondrial DNA heteroplasmy in human organoids with the m.3243A>G mutation causes cortical neuronal disturbances, including axonal degeneration and apoptosis, similar to MELAS patients.

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.

Predicting disease-overarching therapeutic approaches for Congenital Disorders of Glycosylation using multi-OMICS

This study identifies shared molecular signatures and potential therapeutic targets across multiple Congenital Disorders of Glycosylation using multi-omics integration and drug prediction.

PGM1 deficiency disrupts sarcomere and mitochondrial function in a stem-cell cardiomyocyte model

This paper investigates the role of PGM1 in cardiomyocytes using patient-derived stem cells, finding disruptions in sarcomere and mitochondrial function, and suggesting potential therapeutic targets.