ReviewCellular and molecular life sciences : CMLS2021
Mitochondrial disease, mitophagy, and cellular distress in methylmalonic acidemia.
Review in Cellular and molecular life sciences : CMLS, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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The trial behind it
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Who cites it
24 citing papers in PubMed, 36 citations in OpenAlex.
- Cellular Mechanisms Enabling Mitochondria Transfer and Transplantation.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Review
- Association between serum methylmalonic acid and metabolic dysfunction-associated steatotic liver disease: NHANES-based study.Medicine · 2026Article
- [Occurrence status and treatment strategies of abnormal growth and development in children with methylmalonic acidemia].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2026Review
- Clinical and genotypic analysis of 79 children with methylmalonic acidemia: a retrospective single-center study in China.Frontiers in endocrinology · 2026Article
- Mitochondrial dysfunction in methylmalonic acidemia: A pilot study using Seahorse technology in peripheral blood.Molecular genetics and metabolism reports · 2025Article
- Metabolic toxicity and neurological dysfunction in methylmalonic acidemia: from mechanisms to therapeutics.Molecular medicine (Cambridge, Mass.) · 2025Review
- Transforming Growth Factor-β-Mediated Fibrotic Remodeling Drives Chronic Kidney Disease in Methylmalonic Aciduria and Propionic Aciduria-Identification of a New Therapeutic Target.Journal of inherited metabolic disease · 2025Article
- Pan-Cancer Computational Analysis of RKIP (International journal of molecular sciences · 2025Article
- Mitochondrial dysfunction-related metabolite methylmalonic acid is associated with decreased cognitive performance.PloS one · 2025Article
- Associations between elevated uric acid and brain imaging abnormalities in pediatric patients with methylmalonic acidemia under 5 years of age.Scientific reports · 2024Article
- Dysregulation of cerebrospinal fluid metabolism profiles in spinal muscular atrophy patients: a case control study.Italian journal of pediatrics · 2024Article
- pDNA-tachyplesin treatment stimulates the immune system and increases the probability of apoptosis in MC4-L2 tumor cells.Amino acids · 2024Article
- Lipid storage disease in 4 sibling superb birds-of-paradise (Veterinary pathology · 2024Article
- Acute fatal ventricular arrhythmia induced by severe hyperkalemia in a toddler with decompensated methylmalonic acidemia.Journal of medical case reports · 2024Article
- Multiomic analysis in fibroblasts of patients with inborn errors of cobalamin metabolism reveals concordance with clinical and metabolic variability.EBioMedicine · 2024Article
- Insights into energy balance dysregulation from a mouse model of methylmalonic aciduria.Human molecular genetics · 2023Article
- Investigation of XPD, miR-145 and miR-770 expression in patients with end-stage renal disease.Molecular biology reports · 2023Article
- Biomarkers to predict disease progression and therapeutic response in isolated methylmalonic acidemia.Journal of inherited metabolic disease · 2023Review
- Multimodal MR imaging in acute exacerbation of methylmalonic acidemia.Radiology case reports · 2023Article
- Current understanding on pathogenesis and effective treatment of glycogen storage disease type Ib with empagliflozin: new insights coming from diabetes for its potential implications in other metabolic disorders.Frontiers in endocrinology · 2023Review
Corrections and comments
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Authors and funding
5 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mitochondria-the intracellular powerhouse in which nutrients are converted into energy in the form of ATP or heat-are highly dynamic, double-membraned organelles that harness a plethora of cellular functions that sustain energy metabolism and homeostasis. Exciting new discoveries now indicate that the maintenance of this ever changing and functionally pleiotropic organelle is particularly relevant in terminally differentiated cells that are highly dependent on aerobic metabolism. Given the central role in maintaining metabolic and physiological homeostasis, dysregulation of the mitochondrial network might therefore confer a potentially devastating vulnerability to high-energy requiring cell types, contributing to a broad variety of hereditary and acquired diseases. In this Review, we highlight the biological functions of mitochondria-localized enzymes from the perspective of understanding-and potentially reversing-the pathophysiology of inherited disorders affecting the homeostasis of the mitochondrial network and cellular metabolism. Using methylmalonic acidemia as a paradigm of complex mitochondrial dysfunction, we discuss how mitochondrial directed-signaling circuitries govern the homeostasis and physiology of specialized cell types and how these may be disturbed in disease. This Review also provides a critical analysis of affected tissues, potential molecular mechanisms, and novel cellular and animal models of methylmalonic acidemia which are being used to develop new therapeutic options for this disease. These insights might ultimately lead to new therapeutics, not only for methylmalonic acidemia, but also for other currently intractable mitochondrial diseases, potentially transforming our ability to regulate homeostasis and health.
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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.