ArticleProceedings of the National Academy of Sciences of the United States of America2022
Combination of common mtDNA variants results in mitochondrial dysfunction and a connective tissue dysregulation.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 19 citations in OpenAlex.
- MIC13-linked cristae disruption causes metabolic failure and early fibrotic remodelling in mitochondrial liver disease.Cell death & disease · 2026Article
- Review
- Mitochondrial OXPHOS restricts SARS-CoV-2 replication.Science advances · 2026Article
- Identification of mitochondria-related genes in calcific aortic valve disease by integrated analysis of single-cell and bulk transcriptomic atlases.Journal of physiology and biochemistry · 2026Article
- Single-cell multi-omic analysis of mitochondrial mutational mosaicism and dynamics.Nature communications · 2026Article
- Partial restoration of mitochondrial dysfunction by AAV-Ant1 protects from dilated cardiomyopathy in Ant1Nature communications · 2025Article
- Mitochondrial DNA variants and susceptibility to anti-tuberculosis drug-induced liver injury in Korean patients.The pharmacogenomics journal · 2025Article
- Mitochondrial DNA Pathogenic Variant Prevalence in Primary Mitochondrial Disease Patients With African (L) Mitochondrial Genome Haplogroups.JIMD reports · 2025Article
- Exploring the Impact of Mitonuclear Discordance on Disease in Latin American Admixed Populations.Genes · 2025Article
- Mitochondrial Dysfunction and Its Potential Molecular Interplay in Hypermobile Ehlers-Danlos Syndrome: A Scoping Review Bridging Cellular Energetics and Genetic Pathways.Current issues in molecular biology · 2025Review
- Suspected Mitochondrial Dysfunction and Complex Pathophysiology in Fatal Hypermobile Ehlers-Danlos Syndrome: Insights from a Case Report and Post-Mortem Findings.Biomedicines · 2025Article
- Article
- Mitochondrial DNA Haplogroup K Is Protective Against Autism Spectrum Disorder Risk in Populations of European Ancestry.Journal of the American Academy of Child and Adolescent Psychiatry · 2024Article
- Long COVID and hypermobility spectrum disorders have shared pathophysiology.Frontiers in neurology · 2024Article
- Evidence of compensation for mitochondrial reactive oxygen species increase inmicroPublication biology · 2024Article
- Modeling mitochondrial DNA diseases: from base editing to pluripotent stem-cell-derived organoids.EMBO reports · 2023Review
- Incompatibilities between common mtDNA variants in human disease.Proceedings of the National Academy of Sciences of the United States of America · 2023Article
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Authors and funding
16 authors at 3 institutions in 2 countries.
Funding
Abstract
Mitochondrial dysfunction can be associated with a range of clinical manifestations. Here, we report a family with a complex phenotype including combinations of connective tissue, neurological, and metabolic symptoms that were passed on to all surviving children. Analysis of the maternally inherited mtDNA revealed a novel genotype encompassing the haplogroup J - defining mitochondrial DNA (mtDNA)
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.