Éva Morava

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

The paper develops a scalable framework to generate harmonized mtDNA datasets from existing sequencing data across biobanks, enabling population-scale mitochondrial genomics without new sequencing.

ArchSpiral is an iPad app that digitizes a motor assessment task, showing strong agreement with paper-based scores and providing quantitative metrics for rare disease research.

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.

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

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.

The paper develops a C. elegans model of SRD5A3-CDG and identifies atorvastatin as a potential repurposed therapy through a high-throughput screen.

This study identifies diagnostic delay in mitochondrial disease as primarily due to missed recognition of canonical features, not testing limitations, and suggests AI/NLP tools for earlier detection.

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

This study uses cortical organoids to show that ALG13 loss-of-function causes glycosylation defects, neuronal maturation issues, and network hypoactivity in CDG.

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.

This study creates a mouse model of PMM2-CDG by selectively removing PMM2 from neural precursor cells, revealing cerebellar hypoplasia and ataxia, and showing molecular disturbances in the cerebellum that mirror human disease.

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.