ReviewMitochondrion2015
Mitochondrial Diseases Part II: Mouse models of OXPHOS deficiencies caused by defects in regulatory factors and other components required for mitochondrial function.
Review in Mitochondrion, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed.
- Loss of Function of AFG3L2 Leading to Developmental and Epileptic Encephalopathy.CNS neuroscience & therapeutics · 2026Article
- Mitochondrial Transplantation as a Therapeutic Strategy for Inherited Mitochondrial Diseases.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Review
- Enhanced glycolysis and GSK3 inactivation promote brain metabolic adaptations following neuronal mitochondrial stress.Human molecular genetics · 2022Article
- Advances in mt-tRNA Mutation-Caused Mitochondrial Disease Modeling: Patients' Brain in a Dish.Frontiers in genetics · 2020Review
- ATAD3 controls mitochondrial cristae structure in mouse muscle, influencing mtDNA replication and cholesterol levels.Journal of cell science · 2018Article
- A disease-associated Aifm1 variant induces severe myopathy in knockin mice.Molecular metabolism · 2018Article
- The emerging role of immune dysfunction in mitochondrial diseases as a paradigm for understanding immunometabolism.Metabolism: clinical and experimental · 2018Review
- Nutritional Interventions for Mitochondrial OXPHOS Deficiencies: Mechanisms and Model Systems.Annual review of pathology · 2018Review
- Impaired Mitochondrial Function and Dynamics in the Pathogenesis of FXTAS.Molecular neurobiology · 2017Article
- hsa-miR-4485 regulates mitochondrial functions and inhibits the tumorigenicity of breast cancer cells.Journal of molecular medicine (Berlin, Germany) · 2017Article
- The Peroxisome-Mitochondria Connection: How and Why?International journal of molecular sciences · 2017Review
- Review: Central nervous system involvement in mitochondrial disease.Neuropathology and applied neurobiology · 2017Review
- H55N polymorphism is associated with low citrate synthase activity which regulates lipid metabolism in mouse muscle cells.PloS one · 2017Article
- The genetics and pathology of mitochondrial disease.The Journal of pathology · 2017Review
- Dysfunctional mitochondrial bioenergetics and the pathogenesis of hepatic disorders.Frontiers in cell and developmental biology · 2015Review
- Mitochondrial DNA maintenance defects: potential therapeutic strategies.Molecular genetics and metabolismReview
Corrections and comments
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Authors and funding
4 authors.
Funding
Abstract
Mitochondrial disorders are defined as defects that affect the oxidative phosphorylation system (OXPHOS). They are characterized by a heterogeneous array of clinical presentations due in part to a wide variety of factors required for proper function of the components of the OXPHOS system. There is no cure for these disorders owing to our poor knowledge of the pathogenic mechanisms of disease. To understand the mechanisms of human disease numerous mouse models have been developed in recent years. Here we summarize the features of several mouse models of mitochondrial diseases directly related to those factors affecting mtDNA maintenance, replication, transcription, translation as well as other proteins that are involved in mitochondrial dynamics and quality control which affect mitochondrial OXPHOS function without being intrinsic components of the system. We discuss how these models have contributed to our understanding of mitochondrial diseases and their pathogenic mechanisms.
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