Disease: Mitochondrial complex I deficiency
- <em>NUBPL</em> mitochondrial disease: new patients and review of the genetic and clinical spectrum
- 5-Aminolevulinic acid bypasses mitochondrial complex I deficiency and corrects physiological dysfunctions in Drosophila
- 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 Drosophila Mitochondrial Complex I Deficiency Phenotype Array
- A Drosophila model of mitochondrial disease phenotypic heterogeneity
- A homozygous variant in NDUFA8 is associated with developmental delay, microcephaly, and epilepsy due to mitochondrial complex I deficiency
- A novel de novo ACTA1 variant in a patient with nemaline myopathy and mitochondrial Complex I deficiency
- A novel mitochondrial m.14430A>G (MT-ND6, p.W82R) variant causes complex I deficiency and mitochondrial Leigh syndrome
- A Novel Mutation Associated with Neonatal Lethal Cardiomyopathy Leads to an Alternative Transcript Expression in the X-Linked Complex I <em>NDUFB11</em> Gene
- A Novel Variation in the Mitochondrial Complex I Assembly Factor NDUFAF5 Causes Isolated Bilateral Striatal Necrosis in Childhood
- 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
- Age-associated mitochondrial complex I deficiency is linked to increased stem cell proliferation rates in the mouse colon
- Anesthetic Hypersensitivity in a Case-Controlled Series of Patients With Mitochondrial Disease
- Arabidopsis thaliana alternative dehydrogenases: a potential therapy for mitochondrial complex I deficiency? Perspectives and pitfalls
- Berberine alleviates lipid metabolism disorders via inhibition of mitochondrial complex I in gut and liver
- Biallelic Loss-of-Function <em>NDUFA12</em> Variants Cause a Wide Phenotypic Spectrum from Leigh/Leigh-Like Syndrome to Isolated Optic Atrophy
- Case report: malignant hypertension associated with catecholamine excess in a patient with Leigh syndrome
- Case report: novel mutations of NDUFS6 and NHLRC2 genes potentially cause the quick postnatal death of a Chinese Hani minority neonate with mitochondrial complex I deficiency and FINCA syndrome
- Combined Transcriptome and Metabolome Analysis Reveals That the Potent Antifungal Pyrylium Salt Inhibits Mitochondrial Complex I in Candida albicans
- Complex I deficiency and Leigh syndrome through the eyes of a clinician
- Compound heterozygous mutations of NDUFV1 identified in a child with mitochondrial complex I deficiency
- Continuous Hypoxia Reduces Retinal Ganglion Cell Degeneration in a Mouse Model of Mitochondrial Optic Neuropathy
- Corrigendum: A Novel Variation in the Mitochondrial Complex I Assembly Factor NDUFAF5 Causes Isolated Bilateral Striatal Necrosis in Childhood
- CPEB1, a novel risk gene in recent-onset schizophrenia, contributes to mitochondrial complex I defect caused by a defective provirus ERVWE1
- De novo frameshift variant in MT-ND1 causes a mitochondrial complex I deficiency associated with MELAS syndrome
- Deficiency of the mitochondrial ribosomal subunit, MRPL50, causes autosomal recessive syndromic premature ovarian insufficiency
- DMT1 differentially regulates mitochondrial complex activities to reduce glutathione loss and mitigate ferroptosis
- Donation of mitochondria by iPSC-derived mesenchymal stem cells protects retinal ganglion cells against mitochondrial complex I defect-induced degeneration
- Early embryonic lethality in complex I associated p.L104P Nubpl mutant mice
- Early Forms of <em>α</em>-Synuclein Pathology Are Associated with Neuronal Complex I Deficiency in the Substantia Nigra of Individuals with Parkinson's Disease
- Early loss of endogenous NAD<sup>+</sup> following rotenone treatment leads to mitochondrial dysfunction and Sarm1 induction that is ameliorated by PARP inhibition
- Effects of clofibrate and KH176 on life span and motor function in mitochondrial complex I-deficient mice
- Effects of Ndufs4 Deletion on Hearing after Various Acoustic Exposures
- Exploration of mitochondrial defects in sarcopenic hip fracture patients
- FTSH PROTEASE 3 facilitates Complex I degradation through a direct interaction with the Complex I subunit PSST
- Generation of a human induced pluripotent stem cell line NTUHi004-A from a patient with Leigh syndrome harboring a homozygous missense mutation c.836 T > G (p.Met279Arg) in NDUFAF5 gene
- Genome sequencing and RNA-seq analyses of mitochondrial complex I deficiency revealed Alu insertion-mediated deletion in NDUFV2
- Gentamicin-induced hearing loss: A retrospective study using the Food and Drug Administration Adverse Event Reporting System and a toxicological study using drug-gene network analysis
- Identification and Characterization of New Variants in FOXRED1 Gene Expands the Clinical Spectrum Associated with Mitochondrial Complex I Deficiency
- Identification of a novel MT-ND3 variant and restoring mitochondrial function by allotopic expression of MT-ND3 gene
- Impact of a <em>NDUFC2</em> Variant on the Occurrence of Acute Coronary Syndromes
- Impairments in SHMT2 expression or cellular folate availability reduce oxidative phosphorylation and pyruvate kinase activity
- Inhibition of angiogenesis by the secretome from iPSC-derived retinal ganglion cells with Leber's hereditary optic neuropathy-like phenotypes
- Inhibition of mitochondrial complex I leading to NAD<sup>+</sup>/NADH imbalance in type 2 diabetic patients who developed late stent thrombosis: Evidence from an integrative analysis of platelet bioenergetics and metabolomics
- Involvement of Mitochondria in Parkinson's Disease
- Iron status influences mitochondrial disease progression in Complex I-deficient mice
- Is there a special relationship between complex I activity and nigral neuronal loss in Parkinson's disease? A critical reappraisal
- Leigh Syndrome Mouse Model Can Be Rescued by Interventions that Normalize Brain Hyperoxia, but Not HIF Activation
- 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
- Liver Pathology in Mitochondrial Complex I Deficiency from Bi-Allelic Mutations in NDUFS2: A Report of Findings at Autopsy
- Loss of mitochondrial Chchd10 or Chchd2 in zebrafish leads to an ALS-like phenotype and Complex I deficiency independent of the mitochondrial integrated stress response
- Mesenchymal stem cells improve redox homeostasis and mitochondrial respiration in fibroblast cell lines with pathogenic MT-ND3 and MT-ND6 variants
- Metabolic rescue ameliorates mitochondrial encephalo-cardiomyopathy in murine and human iPSC models of Leigh syndrome
- Metformin delays neurological symptom onset in a mouse model of neuronal complex I deficiency
- Microglia mitochondrial complex I deficiency during development induces glial dysfunction and early lethality
- MiR-29a inhibits MPP + - Induced cell death and inflammation in Parkinson's disease model in vitro by potential targeting of MAVS
- Mitochondrial Complex I Deficiency among Egyptian Pediatric Patients with Steroid-Resistant Nephrotic Syndrome
- Mitochondrial complex I deficiency and cardiovascular diseases: current evidence and future directions
- Mitochondrial complex I deficiency and Parkinson disease
- Mitochondrial Complex I Deficiency Masquerading as Stroke-Like Episode Clinically and as Alexander Disease Radiologically Following Chicken Pox
- Mitochondrial complex I deficiency stratifies idiopathic Parkinson's disease
- Mitochondrial Complex I deficiency: guilty in Parkinson's disease
- Mitochondrial complex I subunit deficiency promotes pancreatic α-cell proliferation
- Mitochondrial Protection Promoted by the Coffee Diterpene Kahweol in Methylglyoxal-Treated Human Neuroblastoma SH-SY5Y Cells
- Mitochondrial respiratory complex I deficiency inhibits brown adipogenesis by limiting heme regulation of histone demethylation
- Multisystem mitochondrial diseases due to mutations in mtDNA-encoded subunits of complex I
- NDUFA1 p.Gly32Arg variant in early-onset dementia
- NDUFC2 deficiency exacerbates endothelial mesenchymal transformation during ischemia-reperfusion via NLRP3
- Ndufs4 knockout mouse models of Leigh syndrome: pathophysiology and intervention
- Next generation sequencing reveals novel compound heterozygous deletions in NDUFAF2 in a child with mitochondrial complex I deficiency, nuclear type 10
- Noninvasive Ophthalmic Imaging Measures Retinal Degeneration and Vision Deficits in Ndufs4-/- Mouse Model of Mitochondrial Complex I Deficiency
- Novel <em>MT-ND</em> Gene Variants Causing Adult-Onset Mitochondrial Disease and Isolated Complex I Deficiency
- Novel <em>NDUFA13</em> Mutations Associated with OXPHOS Deficiency and Leigh Syndrome: A Second Family Report
- Novel biallelic mutations in TMEM126B cause splicing defects and lead to Leigh-like syndrome with severe complex I deficiency
- Optimized allotopic expression of mitochondrial ND6 transgene restored complex I and apoptosis deficiencies caused by LHON-linked ND6 14484T > C mutation
- Pathways controlling neurotoxicity and proteostasis in mitochondrial complex I deficiency
- PHB2 ameliorates Doxorubicin-induced cardiomyopathy through interaction with NDUFV2 and restoration of mitochondrial complex I function
- Phenotypic Heterogeneity in Patients with Mutations in the Mitochondrial Complex I Assembly Gene NDUFAF5
- Polymorphic variants at NDUFC2, encoding a mitochondrial complex I subunit, associate with cardiac hypertrophy in human hypertension
- Progressive optic atrophy in a retinal ganglion cell-specific mouse model of complex I deficiency
- Rapidly Progressive Spastic Paraplegia Due to Hyperhomocysteinemia in Child with MTHFR Gene Mutation and Mitochondrial Complex I Deficiency: A Rare Association
- Restoring cellular NAD(P)H levels by PPARalpha and LXRalpha stimulation to improve mitochondrial complex I deficiency
- Rotenone-Induced Model of Parkinson's Disease: Beyond Mitochondrial Complex I Inhibition
- S100A8/A9(hi) neutrophils induce mitochondrial dysfunction and PANoptosis in endothelial cells via mitochondrial complex I deficiency during sepsis
- Serine Catabolism Feeds NADH when Respiration Is Impaired
- Severe Antenatal Hypertrophic Cardiomyopathy Secondary to <em>ACAD9</em>-Related Mitochondrial Complex I Deficiency
- Severe Antenatal Hypertrophic Cardiomyopathy Secondary to ACAD9-Related Mitochondrial Complex I Deficiency
- SHORT-TERM INFLAMMATORY BIOMARKER PROFILES ARE ASSOCIATED WITH DEFICIENT MITOCHONDRIAL BIOENERGETICS IN LYMPHOCYTES OF SEPTIC SHOCK PATIENTS-A PROSPECTIVE COHORT STUDY
- Stimulation of cholesterol biosynthesis in mitochondrial complex I-deficiency lowers reductive stress and improves motor function and survival in mice
- Succinate prodrugs as treatment for acute metabolic crisis during fluoroacetate intoxication in the rat
- Targeting Mitochondrial Complex I Deficiency in MPP(+)/MPTP-induced Parkinson's Disease Cell Culture and Mouse Models by Transducing Yeast NDI1 Gene
- The decylTPP mitochondria-targeting moiety lowers electron transport chain supercomplex levels in primary human skin fibroblasts
- Transgenic NADH dehydrogenase restores oxygen regulation of breathing in mitochondrial complex I-deficient mice
- Uniparental isodisomy as a cause of mitochondrial complex I respiratory chain disorder due to a novel splicing NDUFS4 mutation
- Unique prenatal manifestations of biallelic NDUFAF5 variants: expansion of phenotype
- Unique prenatal manifestations of biallelic NDUFAF5 variants: expansion of the phenotype
- Variable effects of omaveloxolone (RTA408) on primary fibroblasts with mitochondrial defects
- VHL-1 inactivation and mitochondrial antioxidants rescue C. elegans dopaminergic neurodegeneration
- Yeast NDI1 reconfigures neuronal metabolism and prevents the unfolded protein response in mitochondrial complex I deficiency