Disease: Complex 2 mitochondrial respiratory chain deficiency
- A biallelic variant in COX18 cause isolated Complex IV deficiency associated with neonatal encephalo-cardio-myopathy and axonal sensory neuropathy
- 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 deafness-associated mitochondrial DNA mutation caused pleiotropic effects on DNA replication and tRNA metabolism
- A Defect in Mitochondrial Complex III but Not in Complexes I or IV Causes Early beta-Cell Dysfunction and Hyperglycemia in Mice
- A Drosophila model of mitochondrial disease phenotypic heterogeneity
- A novel mitochondrial DNA variant in MT-ND6: m.14430A>C p.(Trp82Gly) identified in a patient with Leigh syndrome and complex I deficiency
- A Novel Mutation Associated with Neonatal Lethal Cardiomyopathy Leads to an Alternative Transcript Expression in the X-Linked Complex I NDUFB11 Gene
- A suppressor of dioxygenase inhibition in a yeast model of SDH deficiency
- A TTC19 mutation associated with progressive movement disorders and peripheral neuropathy: Case report and systematic review
- Acute stress deteriorates breast meat quality of Ross 308 broiler chickens by inducing redox imbalance and mitochondrial dysfunction
- Aldehyde dehydrogenase 2 serves as a key cardiometabolic adaptation regulator in response to plateau hypoxia in mice
- Autophagy deficiency abolishes liver mitochondrial DNA segregation
- beta-Cell Succinate Dehydrogenase Deficiency Triggers Metabolic Dysfunction and Insulinopenic Diabetes
- Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement
- Biallelic <em>COX10</em> Mutations and <em>PMP22</em> Deletion in a Family With Leigh Syndrome and Hereditary Neuropathy With Liability to Pressure Palsy
- Biochemical and Chemical Myopathy as Isolated Initial Manifestation of a Mitochondrial Disorder in a Competitive Swimmer
- Cardiolipin prolongs the lifetimes of respiratory proteins in Drosophila flight muscle
- Challenges in Genetic Diagnosis of Mitochondrial Diseases: What Can Functional Genomics' Studies Do?
- 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
- Complex I activity in hypoxia: implications for oncometabolism
- Complex I deficiency in m.3243A>G fibroblasts is alleviated by reducing NADH accumulation
- Complex I, V, and MDH2 deficient human skin fibroblasts reveal distinct metabolic signatures by (1) H HR-MAS NMR
- COX6C expression driven by copy amplification of 8q22.2 regulates cell proliferation via mediation of mitosis by ROS-AMPK signaling in lung adenocarcinoma
- Curcumin-ZnO conjugated nanoparticles confer neuroprotection against ketamine-induced neurotoxicity
- Detecting respiratory chain defects in osteoblasts from osteoarthritic patients using imaging mass cytometry
- Differences Between Physiological and Pharmacological Actions of Taurine
- 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 III in cap mesenchyme but not in ureteric progenitors results in defective nephrogenesis associated with amino acid deficiency
- DMT1 differentially regulates mitochondrial complex activities to reduce glutathione loss and mitigate ferroptosis
- Effect of CB1 Receptor Deficiency on Mitochondrial Quality Control Pathways in Gastrocnemius Muscle
- Electrophilic Aldehyde 4-Hydroxy-2-Nonenal Mediated Signaling and Mitochondrial Dysfunction
- Fut2 Deficiency Promotes Intestinal Stem Cell Aging by Damaging Mitochondrial Functions via Down-Regulating alpha1,2-Fucosylation of Asah2 and Npc1
- 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
- HINT2 protects against pressure overload-induced cardiac remodelling through mitochondrial pathways
- Human Tim8a, Tim8b and Tim13 are auxiliary assembly factors of mature Complex IV
- Interferon-gamma contributes to disease progression in the Ndufs4(-/-) model of Leigh syndrome
- Interplay of Impaired Cellular Bioenergetics and Autophagy in PMM2-CDG
- Is Type 2 Diabetes a Primary Mitochondrial Disorder?
- ISCA2 deficiency leads to heme synthesis defects and impaired erythroid differentiation in K562 cells by indirect ROS-mediated IRP1 activation
- ISG15 deficiency features a complex cellular phenotype that responds to treatment with itaconate and derivatives
- 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
- Knockout of the Complex III subunit Uqcrh causes bioenergetic impairment and cardiac contractile dysfunction
- 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
- Lip cyanosis as the first symptom of Leigh syndrome associated with mitochondrial complex I deficiency due to a compound heterozygous NDUFS1 mutation: A case report
- LYRM7-associated mitochondrial complex III deficiency with non-cavitating leukoencephalopathy and stroke-like episodes
- Mesenchymal stem cells improve redox homeostasis and mitochondrial respiration in fibroblast cell lines with pathogenic MT-ND3 and MT-ND6 variants
- Mitochondrial calcium uniporter deficiency in dentate granule cells remodels neuronal metabolism and impairs reversal learning
- Mitochondrial complex I subunit NDUFS8.2 modulates responses to stresses associated with reduced water availability
- Mitochondrial complex III deficiency drives c-MYC overexpression and illicit cell cycle entry leading to senescence and segmental progeria
- Mitochondrial dysfunction abrogates dietary lipid processing in enterocytes
- Mitochondrial dysfunction-associated microbiota establishes a transmissible refractory response to anti-TNF therapy during ulcerative colitis
- Mitochondrial electron transport chain, ceramide and Coenzyme Q are linked in a pathway that drives insulin resistance in skeletal muscle
- Mitochondrial electron transport chain, ceramide, and coenzyme Q are linked in a pathway that drives insulin resistance in skeletal muscle
- 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 supports autophagy to provide stress resistance during quiescence
- Mitochondrial-mediated nuclear remodeling and macrophage polarizations: A key switch from liver fibrosis to HCC progression
- Multi-level profiling unravels mitochondrial dysfunction in myotonic dystrophy type 2
- 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
- Neuroimaging in Primary Coenzyme-Q(10)-Deficiency Disorders
- New insights into the structure and dynamics of the TOM complex in mitochondria
- Noncanonical PDK4 action alters mitochondrial dynamics to affect the cellular respiratory status
- Novel pathogenic <em>UQCRC2</em> variants in a female with normal neurodevelopment
- Nuclear genetic background influences the phenotype of the Drosophila tko25t mitochondrial protein-synthesis mutant
- Oxygen regulation of breathing is abolished in mitochondrial complex III-deficient arterial chemoreceptors
- Pathological Features in Paediatric Patients with TK2 Deficiency
- Pentatricopeptide repeat protein CNS1 regulates maize mitochondrial complex III assembly and seed development
- PHB2 ameliorates Doxorubicin-induced cardiomyopathy through interaction with NDUFV2 and restoration of mitochondrial complex I function
- Phenylketonuria oxidative stress and energy dysregulation: Emerging pathophysiological elements provide interventional opportunity
- Plastic response of macrophages to metal ions and nanoparticles in time mimicking metal implant body environment
- Polymorphic variants at NDUFC2, encoding a mitochondrial complex I subunit, associate with cardiac hypertrophy in human hypertension
- PRDM16 exerts critical role in myocardial metabolism and energetics in type 2 diabetes induced cardiomyopathy
- Prominent muscle involvement in a familial form of mitochondrial disease due to a <em>COA8</em> variant
- Prominent muscle involvement in a familial form of mitochondrial disease due to a COA8 variant
- Protective Effect of Sulforaphane on Oxidative Stress and Mitochondrial Dysfunction Associated with Status Epilepticus in Immature Rats
- Rotenone-Induced Model of Parkinson's Disease: Beyond Mitochondrial Complex I Inhibition
- Severe Antenatal Hypertrophic Cardiomyopathy Secondary to ACAD9-Related Mitochondrial Complex I Deficiency
- 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(2)S detoxifying enzyme
- Stbd1-deficient mice display insulin resistance associated with enhanced hepatic ER-mitochondria contact
- Stimulating Mitochondrial Biogenesis with Deoxyribonucleosides Increases Functional Capacity in ECHS1-Deficient Cells
- Structural insights into respiratory complex I deficiency and assembly from the mitochondrial disease-related ndufs4(-/-) mouse
- Structural insights into respiratory complex I deficiency and assembly from the mitochondrial disease-related ndufs4<sup>-/-</sup> mouse
- Structure of the human respiratory complex II
- Succinate prodrugs as treatment for acute metabolic crisis during fluoroacetate intoxication in the rat
- Sulfite Impairs Bioenergetics and Redox Status in Neonatal Rat Brain: Insights into the Early Neuropathophysiology of Isolated Sulfite Oxidase and Molybdenum Cofactor Deficiencies
- SUMOylation Modulates Reactive Oxygen Species (ROS) Levels and Acts as a Protective Mechanism in the Type 2 Model of Diabetic Peripheral Neuropathy
- Targeting Mitochondrial Complex I Deficiency in MPP(+)/MPTP-induced Parkinson's Disease Cell Culture and Mouse Models by Transducing Yeast NDI1 Gene
- The Potential Therapeutic Role of Metformin in Diabetic and Non-Diabetic Bone Impairment
- Transgenic NADH dehydrogenase restores oxygen regulation of breathing in mitochondrial complex I-deficient mice
- Tumor growth of neurofibromin-deficient cells is driven by decreased respiration and hampered by NAD(+) and SIRT3
- Two independent respiratory chains adapt OXPHOS performance to glycolytic switch
- Ubiquinone deficiency drives reverse electron transport to disrupt hepatic metabolic homeostasis in obesity
- Understanding the Pathogenesis of Cardiac Complications in Patients with Propionic Acidemia and Exploring Therapeutic Alternatives for Those Who Are Not Eligible or Are Waiting for Liver Transplantation
- UQCRC2-related mitochondrial complex III deficiency, about 7 patients
- VARS2 Depletion Leads to Activation of the Integrated Stress Response and Disruptions in Mitochondrial Fatty Acid Oxidation