ReviewJournal of inherited metabolic disease2011
Biomarkers for mitochondrial respiratory chain disorders.
Review in Journal of inherited metabolic disease, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
24 citing papers in PubMed.
- Circulating markers of NADH-reductive stress correlate with mitochondrial disease severity.The Journal of clinical investigation · 2021Trial
- NADH Reductive Stress and Its Correlation with Disease Severity in Leigh Syndrome: A Pilot Study Using Patient Fibroblasts and a Mouse Model.Biomolecules · 2024Article
- Mitochondrial diseases in Hong Kong: prevalence, clinical characteristics and genetic landscape.Orphanet journal of rare diseases · 2023Article
- Plasma Gelsolin Reinforces the Diagnostic Value of FGF-21 and GDF-15 for Mitochondrial Disorders.International journal of molecular sciences · 2021Article
- Fibroblast growth factor 21 and grow differentiation factor 15 are sensitive biomarkers of mitochondrial diseases due to mitochondrial transfer-RNA mutations and mitochondrial DNA deletions.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2020Article
- Disrupted Mitochondrial and Metabolic Plasticity Underlie Comorbidity between Age-Related and Degenerative Disorders as Parkinson Disease and Type 2 Diabetes Mellitus.Antioxidants (Basel, Switzerland) · 2020Article
- Expanding and validating the biomarkers for mitochondrial diseases.Journal of molecular medicine (Berlin, Germany) · 2020Article
- Oxidative Phosphorylation Dysfunction Modifies the Cell Secretome.International journal of molecular sciences · 2020Review
- Muscle Carnitine Palmitoyltransferase II (CPT II) Deficiency: A Conceptual Approach.Molecules (Basel, Switzerland) · 2020Review
- Normal FGF-21-Serum Levels in Patients with Carnitine Palmitoyltransferase II (CPT II) Deficiency.International journal of molecular sciences · 2019Article
- Acute Respiratory Failure Is the Initial Manifestation in the Adult-Onset A3243G tRNALeu mtDNA Mutation: A Case Report and the Literature Review.Frontiers in neurology · 2019Article
- Metabolomes of mitochondrial diseases and inclusion body myositis patients: treatment targets and biomarkers.EMBO molecular medicine · 2018Article
- Growth Differentiation Factor 15 Is a Novel Diagnostic Biomarker of Mitochondrial Diseases.Molecular neurobiology · 2017Article
- Glutathione as a Redox Biomarker in Mitochondrial Disease-Implications for Therapy.Journal of clinical medicine · 2017Review
- Potentially diagnostic electron paramagnetic resonance spectra elucidate the underlying mechanism of mitochondrial dysfunction in the deoxyguanosine kinase deficient rat model of a genetic mitochondrial DNA depletion syndrome.Free radical biology & medicine · 2016Article
- Clinical features of MELAS and its relation with A3243G gene point mutation.International journal of clinical and experimental pathology · 2015Article
- Serum GDF15 Levels Correlate to Mitochondrial Disease Severity and Myocardial Strain, but Not to Disease Progression in Adult m.3243A>G Carriers.JIMD reports · 2015Article
- Human platelets as a platform to monitor metabolic biomarkers using stable isotopes and LC-MS.Bioanalysis · 2013Article
- Association of fibroblast growth factor (FGF-21) as a biomarker with primary mitochondrial disorders, but not with secondary mitochondrial disorders (Friedreich Ataxia).Molecular biology reports · 2013Article
- Childhood mitochondrial encephalomyopathies: clinical course, diagnosis, neuroimaging findings, mtDNA mutations and outcome in six children.Italian journal of pediatrics · 2013Article
Corrections and comments
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Authors and funding
1 author.
Funding
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Abstract
Mitochondrial respiratory chain deficiencies are a group of more than 100 disorders of adults and children, with highly variable phenotypes. Their diagnosis is a great challenge, in spite of the fact that knowledge on their molecular genetic background has increased considerably during the last 20 years. Muscle biopsy is the key diagnostic procedure, including histological and biochemical analysis of mitochondria. Less invasive, specific and sensitive diagnostic tools based on serum biomarkers are still lacking. Recent technological developments, especially in mass spectrometry, enable novel tools for identification of local and global molecular consequences of mitochondrial respiratory chain dysfunction in patient samples. Furthermore, emerging disease models, especially genetically modified mice, offer unique materials to tackle pathophysiology with modern transcriptomic, proteomic, and metabolomic approaches. Identified molecular signals or metabolic fingerprints have the potential to be highly useful biomarkers for future diagnosis of mitochondrial respiratory chain disorders.
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