Disease: Complex 4 mitochondrial respiratory chain deficiency
- <em>NDUFAF6</em>-Related Leigh Syndrome Caused by Rare Pathogenic Variants: A Case Report and the Focused Review of Literature
- <em>VARS2</em> gene mutation leading to overall developmental delay in a child with epilepsy: A case report
- A case of ATR-X syndrome with mitochondrial respiratory chain dysfunction
- 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 hypomorphic variant in the translocase of the outer mitochondrial membrane complex subunit TOMM7 causes short stature and developmental delay
- A Missense Variant in AIFM1 Caused Mitochondrial Dysfunction and Intolerance to Riboflavin Deficiency
- A mitochondrial ADXR-ADX-P450 electron transport chain is essential for maternal gametophytic control of embryogenesis in Arabidopsis
- A Novel Nutraceuticals Mixture Improves Liver Steatosis by Preventing Oxidative Stress and Mitochondrial Dysfunction in a NAFLD Model
- A yeast suppressor screen links Coa4 to the mitochondrial copper delivery pathway for cytochrome c oxidase
- A zebrafish tufm mutant model for the COXPD4 syndrome of aberrant mitochondrial function
- Acute myocardial infarction in a patient with MELAS syndrome: a possible link?
- Adipose Mitochondrial Complex I Deficiency Modulates Inflammation and Glucose Homeostasis in a Sex-Dependent Manner
- Aldehyde dehydrogenase 2 serves as a key cardiometabolic adaptation regulator in response to plateau hypoxia in mice
- Anesthetic Hypersensitivity in a Case-Controlled Series of Patients With Mitochondrial Disease
- Ascorbate synthesis as an alternative electron source for mitochondrial respiration: Possible implications for the plant performance
- Asparagine couples mitochondrial respiration to ATF4 activity and tumor growth
- ATP and NAD(+) Deficiency in Parkinson's Disease
- Autophagy deficiency abolishes liver mitochondrial DNA segregation
- Biallelic <em>COX10</em> Mutations and <em>PMP22</em> Deletion in a Family With Leigh Syndrome and Hereditary Neuropathy With Liability to Pressure Palsy
- Biallelic NDUFA4 Deletion Causes Mitochondrial Complex IV Deficiency in a Patient with Leigh Syndrome
- Biallelic P4HTM variants associated with HIDEA syndrome and mitochondrial respiratory chain complex I deficiency
- Bisphenol-A disturbs hormonal levels and testis mitochondrial activity, reducing male fertility
- Cavitating leukodystrophy in a case of mitochondrial complex III deficiency due to LYRM7 mutation
- Challenges in Genetic Diagnosis of Mitochondrial Diseases: What Can Functional Genomics' Studies Do?
- Coenzyme Q(4) is a functional substitute for coenzyme Q(10) and can be targeted to the mitochondria
- Connexin 43 modulates reverse electron transfer in cardiac mitochondria from inducible knock-out Cx43(Cre-ER(T)/fl) mice by altering the coenzyme Q pool
- Curcumin-ZnO conjugated nanoparticles confer neuroprotection against ketamine-induced neurotoxicity
- Cytochrome c oxidase IV isoform 1 (COX4-1) regulates the proliferation, migration and invasion of trophoblast cells via modulating mitochondrial function
- Detecting respiratory chain defects in osteoblasts from osteoarthritic patients using imaging mass cytometry
- Dichloroacetate and thiamine improve survival and mitochondrial stress in a C. elegans model of dihydrolipoamide dehydrogenase deficiency
- Dichloroacetate improves mitochondrial function, physiology, and morphology in FBXL4 disease models
- 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
- Disruption of mitochondrial complex III in cap mesenchyme but not in ureteric progenitors results in defective nephrogenesis associated with amino acid deficiency
- Diversities in Leigh Syndrome Associated with MT-ATP6 Gene Variants
- Docosahexaenoic acid increased MeCP2 mediated mitochondrial respiratory complexes II and III enzyme activities in cortical astrocytes
- Down regulation of the expression of mitochondrial phosphopantetheinyl-proteins in pantothenate kinase-associated neurodegeneration: pathophysiological consequences and therapeutic perspectives
- Dual Mode of Mitochondrial ROS Action during Reprogramming to Pluripotency
- Duplexing complexome profiling with SILAC to study human respiratory chain assembly defects
- Effects of Ndufs4 Deletion on Hearing after Various Acoustic Exposures
- Electrophilic Aldehyde 4-Hydroxy-2-Nonenal Mediated Signaling and Mitochondrial Dysfunction
- Evaluation of Mitochondrial Function on Pyruvate Dehydrogenase Complex Deficient Patient-derived Cell Lines
- Expression pattern of mitochondrial respiratory chain enzymes in skeletal muscle of patients with mitochondrial myopathy associated with the homoplasmic m.14674T>C variant
- 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
- Homozygous MFN2 variants causing severe antenatal encephalopathy with clumped mitochondria
- HPDL deficiency causes a neuromuscular disease by impairing the mitochondrial respiration
- Hypoxia ameliorates brain hyperoxia and NAD(+) deficiency in a murine model of Leigh syndrome
- IARS2 mutations lead to Leigh syndrome with a combined oxidative phosphorylation deficiency
- Identification of a novel homozygous synthesis of cytochrome c oxidase 2 variant in siblings with early-onset axonal Charcot-Marie-Tooth disease
- Increased Diagnostic Yield by Reanalysis of Whole Exome Sequencing Data in Mitochondrial Disease
- Insulin and IGF-1 receptors regulate complex I-dependent mitochondrial bioenergetics and supercomplexes via FoxOs in muscle
- Iron Deficiency without Anemia Decreases Physical Endurance and Mitochondrial Complex I Activity of Oxidative Skeletal Muscle in the Mouse
- Iron status influences mitochondrial disease progression in Complex I-deficient mice
- ISG15 deficiency features a complex cellular phenotype that responds to treatment with itaconate and derivatives
- Lack of mitochondrial complex I assembly factor NDUFAF2 results in a distinctive infantile-onset brainstem neurodegenerative disease with early lethality
- Long-term prognosis and genetic background of cardiomyopathy in 223 pediatric mitochondrial disease patients
- Mitochondrial complex I deficiency and Parkinson disease
- Mitochondrial dysfunction abrogates dietary lipid processing in enterocytes
- Mitochondrial Telomerase Reverse Transcriptase Protects From Myocardial Ischemia/Reperfusion Injury by Improving Complex I Composition and Function
- Mitochondrial Ultrastructural Defects in NDUFS3-Related Disorder
- Mitofusin-2 boosts innate immunity through the maintenance of aerobic glycolysis and activation of xenophagy in mice
- Molecular genetic analysis of candidate genes for glutaric aciduria type II in a cohort of patients from Queensland, Australia
- MT-TN mutations lead to progressive mitochondrial encephalopathy and promotes mitophagy
- Ndufs4 ablation decreases synaptophysin expression in hippocampus
- Nicotinamide Riboside Supplementation Restores Myocardial Nicotinamide Adenine Dinucleotide Levels, Improves Survival, and Promotes Protective Environment Post Myocardial Infarction
- Nobiletin mitigates hepatocytes death, liver inflammation, and fibrosis in a murine model of NASH through modulating hepatic oxidative stress and mitochondrial dysfunction
- Noncanonical PDK4 action alters mitochondrial dynamics to affect the cellular respiratory status
- Novel pathogenic <em>UQCRC2</em> variants in a female with normal neurodevelopment
- Nox4 Knockout Does Not Prevent Diaphragm Atrophy, Contractile Dysfunction, or Mitochondrial Maladaptation in the Early Phase Post-Myocardial Infarction in Mice
- On the potential role of globins in brown adipose tissue: a novel conceptual model and studies in myoglobin knockout mice
- Optic atrophy-associated TMEM126A is an assembly factor for the ND4-module of mitochondrial complex I
- Organization of the Respiratory Supercomplexes in Cells with Defective Complex III: Structural Features and Metabolic Consequences
- Pathogenic SLIRP variants as a novel cause of autosomal recessive mitochondrial encephalomyopathy with complex I and IV deficiency
- Pathogenic variants in MRPL44 cause infantile cardiomyopathy due to a mitochondrial translation defect
- Pearls & Oy-sters: Paroxysmal Exercise-Induced Dyskinesias Due to Pyruvate Dehydrogenase Deficiency
- Population genetics of Aedes albopictus in the port cities of Hainan Island and Leizhou Peninsula, China
- Progressive external ophthalmoplegia - A case report
- Protective Effect of Sulforaphane on Oxidative Stress and Mitochondrial Dysfunction Associated with Status Epilepticus in Immature Rats
- Reduced electron transport chain complex I protein abundance and function in Mfn2-deficient myogenic progenitors lead to oxidative stress and mitochondria swelling
- Regulation of Drp1 and enhancement of mitochondrial fission by the deubiquitinating enzyme PSMD14 facilitates the proliferation of bladder cancer cells
- Replicative Stress Coincides with Impaired Nuclear DNA Damage Response in COX4-1 Deficiency
- Rotenone-Induced Model of Parkinson's Disease: Beyond Mitochondrial Complex I Inhibition
- Severe congenital lactic acidosis and hypertrophic cardiomyopathy caused by an intronic variant in NDUFB7
- Stbd1-deficient mice display insulin resistance associated with enhanced hepatic ER-mitochondria contact
- 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
- T1121G Point Mutation in the Mitochondrial Gene COX1 Suppresses a Null Mutation in ATP23 Required for the Assembly of Yeast Mitochondrial ATP Synthase
- Tafazzin deficiency attenuates anti-cluster of differentiation 40 and interleukin-4 activation of mouse B lymphocytes
- Targeting Mitochondrial Complex I Deficiency in MPP(+)/MPTP-induced Parkinson's Disease Cell Culture and Mouse Models by Transducing Yeast NDI1 Gene
- TFAM-deficient mouse skin fibroblasts - an ex vivo model of mitochondrial dysfunction
- The APC/C Activator Cdh1p Plays a Role in Mitochondrial Metabolic Remodelling in Yeast
- The possible association of mitochondrial fusion and fission in copper deficiency-induced oxidative damage and mitochondrial dysfunction of the heart
- Tumor growth of neurofibromin-deficient cells is driven by decreased respiration and hampered by NAD(+) and SIRT3
- Understanding coenzyme Q
- 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
- Unraveling ETC complex I function in ferroptosis reveals a potential ferroptosis-inducing therapeutic strategy for LKB1-deficient cancers
- Upregulation of COX4-2 via HIF-1alpha in Mitochondrial COX4-1 Deficiency
- Vitamin C modulates the levels of several proteins of the mitochondrial complex III and its activity in the mouse liver
- α-Tocopherol Attenuates Oxidative Phosphorylation of CD34<sup>+</sup> Cells, Enhances Their G0 Phase Fraction and Promotes Hematopoietic Stem and Primitive Progenitor Cell Maintenance