Wellcome Centre for Mitochondrial Research

Recent papers from Wellcome Centre for Mitochondrial Research

1. Pyrophosphatase 2 Deficiency: Clinical Presentation, Diagnosis and ManagementCirculation Genomic and Precision Medicine · 2026
2. Identification of substrates of the human mitochondrial ClpXP protease and its implications for Perrault syndromeNature Communications · 2026
3. Induction of Mitochondrial Biogenesis Is a Maladaptive Mechanism in Mitochondrial CardiomyopathiesJournal of the American College of Cardiology · 2007
4. Association for Clinical Genomic Science (ACGS) Best Practice Guidelines for Variant Classification in Rare Disease2026
5. Skogholt’s disease: multimodal evidence for choroid plexus–centred clearance failureFluids and Barriers of the CNS · 2026
6. The British Society for Genetic Medicine guidance on managing incidental findings identified during rare disease genomic testingJournal of Medical Genetics · 2026
7. A Novel SLC25A4 Variant Causing Mitochondrial Dysfunction, Myopathy and Cardiomyopathy: A Functional and Molecular CharacterizationInternational Journal of Molecular Sciences · 2026
8. Digital Cognitive Testing in Mitochondrial Disease: Validity and Challenges for Clinical Trial UseAnnals of Clinical and Translational Neurology · 2026
9. MT‐RNR1 genotype testing for preventing aminoglycoside‐mediated ototoxicity: A guideline developed by the UK Centre of Excellence in Regulatory Science and Innovation in Pharmacogenomics (CERSI‐PGx)British Journal of Clinical Pharmacology · 2026
10. Identification of Nuclear Genetic Loci Linked to Clinical Features of the m.3243A>G Mitochondrial DNA VariantNeurology Genetics · 2026
11. Gut microbiota alterations in individuals with mitochondrial disease caused by the m.3243A >G mutationMolecular Genetics and Metabolism · 2026
12. Bi-allelic missense variants in human GPN2 result in Perrault syndromeThe American Journal of Human Genetics · 2026
13. 14P Unravelling mitochondrial DNA mutations in high-grade serous ovarian cancerESMO Open · 2026
14. Raptor and Drp1 Function Synthetically to Control Hypoxic Death and the Mitochondrial Network in Caenorhabditis elegansThe FASEB Journal · 2026
15. A neuronal model of mtDNA disease reveals an ineffective reprogramming of the electron transfer chain during neuronal maturationMitochondrion · 2026
16. Redox signals and oxidative stress in the control of mitochondrial protein import.2026
17. A genome-wide genetic screen identifies a novel kDNA replication protein in trypanosomes.2026
18. Patient Preferences in Neuromuscular Diseases: Insights for Future Drug Development2026
19. Cardiac involvement in mitochondrial DNA disease: clinical spectrum, diagnosis, and managementEuropean Heart Journal · 2012
20. Pathogenic variants in the autophagy-tethering factor EPG5 drive neurodegeneration through mitochondrial dysfunction and innate immune activationNature Communications · 2026