ArticleJournal of translational genetics and genomics2020
Mitochondrial diseases: expanding the diagnosis in the era of genetic testing.
Article in Journal of translational genetics and genomics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 1 of them a synthesis that pooled it.
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Who cites it
14 citing papers in PubMed, 1 synthesis or guideline pooled it.
- The efficacy of coenzyme QJournal of cellular and molecular medicine · 2022Pooled it
- Biallelic variants in COX18 cause a mitochondrial disorder primarily manifesting as peripheral neuropathy.Brain : a journal of neurology · 2026Article
- Molecular insights into codon usage analysis of mitochondrial fission and fusion gene: relevance to neurodegenerative diseases.Annals of medicine and surgery (2012) · 2024Article
- The Impact of SLC2A8 RNA Interference on Glucose Uptake and the Transcriptome of Human Trophoblast Cells.Cells · 2024Article
- Optimized Nutrition in Mitochondrial Diseases Correlates with Improved Muscle Fatigue, Strength, and Quality of Life: You Are What You Eat, or Are You?Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2023Article
- Hydrogel platform with tunable stiffness based on magnetic nanoparticles cross-linked GelMA for cartilage regeneration and its intrinsic biomechanism.Bioactive materials · 2023Article
- Creation of Mitochondrial Disease Models Using Mitochondrial DNA Editing.Biomedicines · 2023Review
- The complexities of investigating mitochondria dynamics in multiple sclerosis and mouse models of MS.Frontiers in neuroscience · 2023Review
- Sleep and Breathing Disturbances in Children With Leigh Syndrome: A Comparative Study.Pediatric neurology · 2022Article
- Mitochondria-Associated Membrane Scaffolding with Endoplasmic Reticulum: A Dynamic Pathway of Developmental Disease.Frontiers in molecular biosciences · 2022Article
- Mitochondrial hepatopathy: Respiratory chain disorders- 'breathing in and out of the liver'.World journal of hepatology · 2021Review
- Utilization of Human Samples for Assessment of Mitochondrial Bioenergetics: Gold Standards, Limitations, and Future Perspectives.Life (Basel, Switzerland) · 2021Review
- Excessively Enlarged Mitochondria in the Kidneys of Diabetic Nephropathy.Antioxidants (Basel, Switzerland) · 2021Review
- Sleep and breathing in children with Joubert syndrome and a review of other rare congenital hindbrain malformations.Therapeutic advances in respiratory diseaseReview
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1 author.
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Abstract
Mitochondrial diseases are clinically and genetically heterogeneous. These diseases were initially described a little over three decades ago. Limited diagnostic tools created disease descriptions based on clinical, biochemical analytes, neuroimaging, and muscle biopsy findings. This diagnostic mechanism continued to evolve detection of inherited oxidative phosphorylation disorders and expanded discovery of mitochondrial physiology over the next two decades. Limited genetic testing hampered the definitive diagnostic identification and breadth of diseases. Over the last decade, the development and incorporation of massive parallel sequencing has identified approximately 300 genes involved in mitochondrial disease. Gene testing has enlarged our understanding of how genetic defects lead to cellular dysfunction and disease. These findings have expanded the understanding of how mechanisms of mitochondrial physiology can induce dysfunction and disease, but the complete collection of disease-causing gene variants remains incomplete. This article reviews the developments in disease gene discovery and the incorporation of gene findings with mitochondrial physiology. This understanding is critical to the development of targeted therapies.
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