Disease: Complex 3 mitochondrial respiratory chain deficiency
- <em>VARS2</em> gene mutation leading to overall developmental delay in a child with epilepsy: A case report
- 4E-BP1 counteracts human mesenchymal stem cell senescence via maintaining mitochondrial homeostasis
- A cryptic pathogenic NDUFV1 variant identified by RNA-seq in a patient with normal complex I activity in muscle and transient magnetic resonance imaging changes
- A Defect in Mitochondrial Complex III but Not in Complexes I or IV Causes Early beta-Cell Dysfunction and Hyperglycemia in Mice
- A novel nonsense variant in MT-CO3 causes MELAS syndrome
- A TTC19 mutation associated with progressive movement disorders and peripheral neuropathy: Case report and systematic review
- Alteration of mitochondrial function in the livers of mice with glycogen branching enzyme deficiency
- Assocation Between Leber's Hereditary Optic Neuropathy and MT-ND1 3460G>A Mutation-Induced Alterations in Mitochondrial Function, Apoptosis, and Mitophagy
- Autophagy deficiency abolishes liver mitochondrial DNA segregation
- BCS1L mutations produce Fanconi syndrome with developmental disability
- Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement
- Biallelic <em>COA7</em>-Variants Leading to Developmental Regression With Progressive Spasticity and Brain Atrophy in a Chinese Patient
- Cardioprotective Effect of 2-Ethyl-3-Hydroxy-6-Methylpyridinium 2-Nitroxysuccinate Against Adrenaline/Hydrocortisone-Induced Myocardial Ischemia in Mice: Modulation of Free-Radical Processes in Biomembranes and Monoamine Oxidase A Activity
- Case report of atypical Leigh syndrome in an adolescent male with novel biallelic variants in NDUFAF5 and review of the natural history of NDUFAF5-related disorders
- Challenges in Genetic Diagnosis of Mitochondrial Diseases: What Can Functional Genomics' Studies Do?
- Characterising a homozygous two-exon deletion in UQCRH: comparing human and mouse phenotypes
- Clinical Heterogeneity in <em>MT-ATP6</em> Pathogenic Variants: Same Genotype-Different Onset
- Coenzyme Q deficiency in endothelial mitochondria caused by hypoxia; remodeling of the respiratory chain and sensitivity to anoxia/reoxygenation
- Combined Transcriptome and Metabolome Analysis Reveals That the Potent Antifungal Pyrylium Salt Inhibits Mitochondrial Complex I in Candida albicans
- Comparison of metabolic effects of mitochondrial dysfunctions in the context of vulnerability to fatigue: computer simulation study
- Complex mitochondrial disease caused by the mutation of COX10 in a toddler: a case-report study
- Consolidating biallelic SDHD variants as a cause of mitochondrial complex II deficiency
- DDIT3 Directs a Dual Mechanism to Balance Glycolysis and Oxidative Phosphorylation during Glutamine Deprivation
- Detecting respiratory chain defects in osteoblasts from osteoarthritic patients using imaging mass cytometry
- Development and characterization of a mouse model for Acad9 deficiency
- Diet-induced vitamin D deficiency reduces skeletal muscle mitochondrial respiration
- Dietary Iron Deficiency Modulates Adipocyte Iron Homeostasis, Adaptive Thermogenesis, and Obesity in C57BL/6 Mice
- Disruption of mitochondrial bioenergetics and calcium homeostasis by phytanic acid in the heart: Potential relevance for the cardiomyopathy in Refsum disease
- Disruption of mitochondrial complex I induces progressive parkinsonism
- Diverse mitochondrial abnormalities in a new cellular model of TAFFAZZIN deficiency are remediated by cardiolipin-interacting small molecules
- Diversities in Leigh Syndrome Associated with MT-ATP6 Gene Variants
- DJ-1 attenuates the glycation of mitochondrial complex I and complex III in the post-ischemic heart
- Dual Mode of Mitochondrial ROS Action during Reprogramming to Pluripotency
- Dysregulation of mitochondria, apoptosis and mitophagy in Leber's hereditary optic neuropathy with MT-ND1 3635G>A mutation
- Early embryonic lethality in complex I associated p.L104P Nubpl mutant mice
- Early Forms of alpha-Synuclein Pathology Are Associated with Neuronal Complex I Deficiency in the Substantia Nigra of Individuals with Parkinson's Disease
- Effects of Ndufs4 Deletion on Hearing after Various Acoustic Exposures
- Expanding the genetic and phenotypic spectrum of Baker-Gordon syndrome: a new <em>de novo SYT1</em> variant
- Expanding the phenotypic and molecular spectrum of NFS1-related disorders that cause functional deficiencies in mitochondrial and cytosolic iron-sulfur cluster containing enzymes
- FTSH PROTEASE 3 facilitates Complex I degradation through a direct interaction with the Complex I subunit PSST
- Genetic heterogeneity and respiratory chain enzyme analysis in pediatric Indian patients with mitochondrial disorder: Report of novel variants in POLG1 gene and their functional implication using molecular dynamic simulation
- Glucose 6-P dehydrogenase delays the onset of frailty by protecting against muscle damage
- Glycerol-3-phosphate biosynthesis regenerates cytosolic NAD(+) to alleviate mitochondrial disease
- HINT2 protects against pressure overload-induced cardiac remodelling through mitochondrial pathways
- Hyperkinesias in Leigh-like Syndrome with Complex-I Deficiency Due to m.10191T>C in MT-ND3
- Hypertrophic cardiomyopathy is characterized by alterations of the mitochondrial calcium uniporter complex proteins: insights from patients with aortic valve stenosis versus hypertrophic obstructive cardiomyopathy
- Hypoxia and intra-complex genetic suppressors rescue complex I mutants by a shared mechanism
- Insulin and IGF-1 receptors regulate complex I-dependent mitochondrial bioenergetics and supercomplexes via FoxOs in muscle
- Interferon-gamma contributes to disease progression in the Ndufs4(-/-) model of Leigh syndrome
- IQGAP1 mediates the communication between the nucleus and the mitochondria via NDUFS4 alternative splicing
- JinChan YiShen TongLuo Formula ameliorate mitochondrial dysfunction and apoptosis in diabetic nephropathy through the HIF-1alpha-PINK1-Parkin pathway
- JinChan YiShen TongLuo Formula ameliorate mitochondrial dysfunction and apoptosis in diabetic nephropathy through the HIF-1α-PINK1-Parkin pathway
- Lack of mitochondrial complex I assembly factor NDUFAF2 results in a distinctive infantile-onset brainstem neurodegenerative disease with early lethality
- Leber's hereditary optic neuropathy-associated ND6 14484T > C mutation caused pleiotropic effects on the complex I, RNA homeostasis, apoptosis and mitophagy
- Living donor liver transplantation for myocerebrohepatopathy spectrum due to POLG mutations
- Long-term prognosis and genetic background of cardiomyopathy in 223 pediatric mitochondrial disease patients
- Maple Syrup Urine Disease
- Mechanistic insights into mitochondrial tRNA(Ala) 3'-end metabolism deficiency
- Methylglyoxal-mediated Gpd1 activation restores the mitochondrial defects in a yeast model of mitochondrial DNA depletion syndrome
- Mitochondrial dysfunction abrogates dietary lipid processing in enterocytes
- Mitochondrial GRIM-19 loss in parietal cells promotes spasmolytic polypeptide-expressing metaplasia through NLR family pyrin domain-containing 3 (NLRP3)-mediated IL-33 activation via a reactive oxygen species (ROS) -NRF2- Heme oxygenase-1(HO-1)-NF-B axis
- Mitochondrial haplotype mutation alleviates respiratory defect of MELAS by restoring taurine modification in tRNA with 3243A > G mutation
- Mitochondrial impairment, decreased sirtuin activity and protein acetylation in dorsal root ganglia in Friedreich Ataxia models
- Mitochondrial respiration is essential for photosynthesis-dependent ATP supply of the plant cytosol
- Mitochondrial respiration supports autophagy to provide stress resistance during quiescence
- Mitochondrial-mediated nuclear remodeling and macrophage polarizations: A key switch from liver fibrosis to HCC progression
- Molecular genetic analysis of candidate genes for glutaric aciduria type II in a cohort of patients from Queensland, Australia
- Multi-level profiling unravels mitochondrial dysfunction in myotonic dystrophy type 2
- Mutations in the Yeast Cox12 Subunit Severely Compromise the Activity of the Mitochondrial Complex IV
- N-Acetylglutamate and N-acetylmethionine compromise mitochondrial bioenergetics homeostasis and glutamate oxidation in brain of developing rats: Potential implications for the pathogenesis of ACY1 deficiency
- NDUFS3 depletion permits complex I maturation and reveals TMEM126A/OPA7 as an assembly factor binding the ND4-module intermediate
- Neuroimaging in Primary Coenzyme-Q(10)-Deficiency Disorders
- New insights into brain injury in chickens induced by bisphenol A and selenium deficiency-Mitochondrial reactive oxygen species and mitophagy-apoptosis crosstalk homeostasis
- New subtype of PCH1C caused by novel EXOSC8 variants in a 16-year-old Spanish patient
- Noninvasive Ophthalmic Imaging Measures Retinal Degeneration and Vision Deficits in Ndufs4-/- Mouse Model of Mitochondrial Complex I Deficiency
- Novel pathogenic <em>UQCRC2</em> variants in a female with normal neurodevelopment
- Pentatricopeptide repeat protein CNS1 regulates maize mitochondrial complex III assembly and seed development
- Plastic response of macrophages to metal ions and nanoparticles in time mimicking metal implant body environment
- Promising 8-Aminoquinoline-Based Metal Complexes in the Modulation of SIRT1/3-FOXO3a Axis against Oxidative Damage-Induced Preclinical Neurons
- Protective Effect of Sulforaphane on Oxidative Stress and Mitochondrial Dysfunction Associated with Status Epilepticus in Immature Rats
- Rapidly Progressive Spastic Paraplegia Due to Hyperhomocysteinemia in Child with MTHFR Gene Mutation and Mitochondrial Complex I Deficiency: A Rare Association
- Repurposing Ceritinib Induces DNA Damage and Enhances PARP Inhibitor Responses in High-Grade Serous Ovarian Carcinoma
- Role of Mitochondria in Inflammatory Bowel Diseases: A Systematic Review
- Rotenone-Induced Model of Parkinson's Disease: Beyond Mitochondrial Complex I Inhibition
- Serum fatty acid profiling in patients with SDHx mutations: New advances on cellular metabolism in SDH deficiency
- Severe neonatal MEGDHEL syndrome with a homozygous truncating mutation in SERAC1
- SLC1A1-mediated cellular and mitochondrial influx of R-2-hydroxyglutarate in vascular endothelial cells promotes tumor angiogenesis in IDH1-mutant solid tumors
- SOD1 is an essential H<sub>2</sub>S detoxifying enzyme
- Sulfite Impairs Bioenergetics and Redox Status in Neonatal Rat Brain: Insights into the Early Neuropathophysiology of Isolated Sulfite Oxidase and Molybdenum Cofactor Deficiencies
- Tafazzin deficiency attenuates anti-cluster of differentiation 40 and interleukin-4 activation of mouse B lymphocytes
- Targeting Erbin-mitochondria axis in platelets/megakaryocytes promotes B cell-mediated antitumor immunity
- Targeting Mitochondrial Complex I Deficiency in MPP(+)/MPTP-induced Parkinson's Disease Cell Culture and Mouse Models by Transducing Yeast NDI1 Gene
- The protective effect of N-acetylcysteine on antimycin A-induced respiratory chain deficiency in mesenchymal stem cells
- The striking differences in the bioenergetics of brain and liver mitochondria are enhanced in mitochondrial disease
- Trib1 deficiency causes brown adipose respiratory chain depletion and mitochondrial disorder
- Tumor growth of neurofibromin-deficient cells is driven by decreased respiration and hampered by NAD(+) and SIRT3
- Unique prenatal manifestations of biallelic NDUFAF5 variants: expansion of phenotype
- UQCRC2-related mitochondrial complex III deficiency, about 7 patients
- Zebrafish cox17 modulates primitive erythropoiesis via regulation of mitochondrial metabolism to facilitate hypoxia tolerance
- α-Tocopherol Attenuates Oxidative Phosphorylation of CD34<sup>+</sup> Cells, Enhances Their G0 Phase Fraction and Promotes Hematopoietic Stem and Primitive Progenitor Cell Maintenance