Transplantation of encapsulated mitochondria alleviates dysfunction in mitochondrial and Parkinson's disease models.

Integrated molecular and clinical profiling of primary mitochondrial oxidative phosphorylation disorders in an Indian cohort: Insights from genetics, neuroimaging, and machine learning.

COG5 deficiency disrupts cellular copper homeostasis and underlies the impaired mitochondrial OXPHOS function.

Acute Neurological Complications After Transplantation in Methylmalonic Acidemia: A 35-Patient French Cohort.

Pluripotent stem-cell-based screening uncovers sildenafil as a mitochondrial disease therapy.

New Neuroimaging Findings in Enoyl-CoA Hydratase Short-Chain 1 (ECHS1) Deficiency.

[Decreased plasma citrulline is a biochemical marker in newborn screening for MT-ATP6-associated mitochondrial disease: two case reports and a literature review].

The Citric Acid Cycle Modulates Neurologic Health and Is a Therapeutic Target of Dietary and Genetic Modification in Metabolic Disease.

Generative AI Accelerates Genotype-Phenotype Characterization of a 1600-Case Leigh Syndrome Virtual Cohort from Published Literature.

The succinate prodrug NV354 prevents brain lesions and late-stage motor dysfunction in mitochondrial complex I deficiency.

Identifying NDUFA12 mutation in a Saudi family: An unusual presentation of mitochondrial Complex I deficiency mimicking as idiopathic intracranial hypertension in a patient with papilledema and visual loss.

Remimazolam-based anesthesia with intraoperative motor evoked potential monitoring in a patient with Leigh syndrome undergoing scoliosis surgery: a case report.

Expanding the Phenotypic Spectrum of NDUFS6-Related Disease: From Neonatal Mitochondrial Encephalopathy to Childhood-Onset Axonal Neuropathy.

Genetic regulators of neuronal survival across metabolic environments.

An Apparently Isolated Optic Neuropathy Associated with Biallelic Variants in SLC25A46 Gene Encoding the Mitochondrial Ugo1-Like Protein.

Largely Distinct Post-Translational Modifications Differentiate Skeletal Muscle Wasting Caused by Cancer, Dexamethasone and Aging.

Leigh Syndrome Pathomechanism Involves Region-Specific Innate Immune Activation in Ndufs4 Knockout Mice.

Epilepsy Phenotype and EEG Finding of Rhythmic High-Amplitude Delta With Superimposed Spikes (RHADS) in Succinate Dehydrogenase Deficiency.

Leigh Syndrome Complicated by Takotsubo Cardiomyopathy: A Case Report and Literature Review.

Targeting mitochondrial deubiquitinase USP30 to induce mitophagy in heteroplasmic mitochondrial diseases.

NDUFS4, a mitochondrial complex I subunit, is essential for T-cell metabolic fitness and immune function.

Ultrasound-assisted gene therapy mitigates Leigh syndrome pathology.

Congenital Inborn Errors of Metabolism: Clinical and Imaging Pearls.

Energy Metabolism Under Stress: Late-Stage Leigh Syndrome Reveals Profound Cardiometabolic Perturbations in Ndufs4 KO Mice.

Primary cortical neurons precipitate and extrude large mitochondria-associated calcium-phosphate sheets with a bone-precursor-like ultrastructure.

SWATH-MS reveals tissue-specific proteomic changes in a Leigh syndrome mouse model.

The Path to Precision Medicine in Leigh Syndrome Spectrum: A Four-Decade Chronicle of Genetic Discovery and Targeted Treatment.

Mitochondrial tRNA-Derived Diseases.

Profiles of paediatric patients experiencing stroke-like episodes associated with mitochondrial disease.

From Severe Neonatal Encephalopathy to Slowly Neurologic Progressive Disease: Pyruvate Dehydrogenase Deficiency Related to PDHA1 Variants.

Impaired Complex I dysregulates neural/glial precursors and corpus callosum development revealing postnatal defects in Leigh syndrome mice.

Counseling and Prognostic Challenges in Survivorship and Mortality in Primary Mitochondrial Disease: Reshaping a Once Bleak Landscape.

Identification of Intronic Variants in NDUFA3 as a Cause of Leigh Syndrome by Whole Genome Sequencing and RNA Sequencing.

Hydrogen Sulfide Signaling in Neurodegenerative Movement Disorders.

Knowledge of the underlying genetic defect and detailed phenotype can prevent complications from general anaesthesia in Leigh syndrome.

Fatal Presentation of Leigh Syndrome in a Neonate: Comprehensive Neuroimaging Findings With MT-ND5 Mutation.

Capillary Leak Syndrome and Inflammatory Bowel Diseases Like-Symptoms in Leigh Syndrome.

Dysfunctional LHX6 pallido-subthalamic projections mediate epileptic events in a mouse model of Leigh syndrome.

From Congenital Torticollis to Leigh Syndrome: A Case Report of Diagnostic Evolution in an Infant.

VPS13D-Related Disorders: Description of New Variant and Phenotypic Spectrum Based on Age of Onset.

Expanding research and care for Leigh syndrome: efforts of a patient-led advocacy organization.

Hypocitrullinemia as an Early Diagnostic Biomarker for MT-ATP6 Mitochondrial Diseases.

Pathological PNPase variants with altered RNA binding and degradation activity affect the phenotype of bacterial and human cell models.

Functional characterization of SDHB variants clarifies hereditary pheochromocytoma and paraganglioma risk and genotype-phenotype relationships.

Recessive variants in mitochondrial Complex I nuclear subunits are an underrated cause of optic atrophy.

MT-ATP6 variant as a cause of adult-onset hereditary spastic paraparesis: A case report and literature review.

Complex IV deficiency due to COX4I1 deep intronic and de novo variants results in progressive motor impairment and Leigh syndrome.

Mitochondrial Leigh syndrome: the state of the art.

AI-powered neuroimaging markers: a new era in paediatric Leigh syndrome diagnosis.

The evolving landscape of mitochondrial base editing: advances in precision, modeling, and therapeutic potential.

Progressive spinal cord involvement in Leigh syndrome due to an NDUFV1 variant.

Severe Chemoradiotherapy Toxicity in a Pediatric Patient with Leigh Syndrome and Grade IV Isocitrate Dehydrogenase-Mutant Astrocytoma: A Case Report.

Pathogenesis of mtDNA point mutation m.10191T>C affecting complex I function is a multifactorial process leading to metabolic remodeling of mitochondria.

Biallelic NDUFA9 variants cause a progressive neurodevelopmental disorder with prominent dystonia and mitochondrial complex I deficiency.

Semaglutide and the pathogenesis of progressive neurodegenerative disease: the central role of mitochondria.

Identification of novel NDUFA3 variants in a patient with mitochondrial disorders.

Case Report: Biallelic variants in MRPS36, encoding a component of the 2-oxoglutarate dehydrogenase complex, cause leigh syndrome.

Leigh Syndrome Due to the Variant c.1019T>C in COX15.

A STOP-Gain RNF213 Variant Causes Chorea, Stroke-Like Episodes, and Leigh Syndrome-Like Encephalopathy.

Genetic and Clinical Investigations of C12orf65 Gene Mutations in Three Chinese Pedigrees.

[Clinical characteristics analysis of mitochondrial short-chain enoyl-CoA hydratase 1 deficiency with ECHS1 gene c.489G>A compound heterozygous variants].

Motor Neuropathy in a Patient With Mitochondrial Disease and a Novel TTC19 Variant: An Underrecognized Phenotypic Feature.

Improved AAV9-based gene therapy design for SURF1-related Leigh syndrome with minimal toxicity.

Efficacy and Safety of 5-Aminolevulinic Acid Hydrochloride Combined with Sodium Ferrous Citrate in Pediatric Patients with Leigh Syndrome and Central Nervous System Disorders: An Initial Exploratory Trial with a Double-Blind Placebo-Controlled Period, Followed by an Open-Label Period and a Subsequent Long-Term Administration Study.

Reduced complex I activity in the retinal pigment epithelium, but not in rod photoreceptors, affects light signaling without impacting cell survival.

Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.

ndufs2-/- zebrafish have impaired survival, neuromuscular activity, morphology, and one-carbon metabolism treatable with folic acid.

Zagociguat prevented stressor-induced neuromuscular dysfunction, improved mitochondrial physiology, and increased exercise capacity in diverse mitochondrial respiratory chain disease zebrafish models.

Pioglitazone Ameliorates Mitochondrial Oxidative Stress and Inflammation via AMPK-Dependent Inhibition of Mitochondrial Fission in Leigh Syndrome.

Multiplexed quantum sensing reveals coordinated thermomagnetic regulation of mitochondria.

Clinical features, disease burden and impact on quality of life in participants with mitochondrial encephalomyopathy.

The genotype/phenotype conundrum of inherited mitochondrial disorders: Insights from a survey of mtDNA mutations associated with Leigh syndrome in complex I.

Deep Brain Stimulation in Leigh-Like Syndrome Due to DNM1 Pathogenic Variant.

Metabolic Effects of Succinate Dehydrogenase Loss in Cancer.

NDUFV1 mutation presenting as isolated progressive optic neuropathy: a unique manifestation of mitochondrial complex I deficiency.

Respiratory complex III2 assembles complex I via toxic intermediate in mitochondrial disease.

Neuronal branching in stem cell models of mitochondrial and neurological diseases.

Expanding the Clinical, Pathological, and Molecular Phenotypes of Tetratricopeptide 19 (TTC19) Gene Mutations: A Case Report from India.

The xenobiotic detoxification pathway - glycine conjugation - is downregulated in a mouse model of Leigh syndrome.

Disruption of Lrpprc affects B cell development and proliferation in a mouse model of Leigh Syndrome French Canadian type.

Rare presentation of dandy-walker variant syndrome associated with leigh syndrome: a promising therapeutic approach for prognosis in children related in a case report.

Clinical, metabolic, and genetic characteristics of 42 children with mitochondrial short-chain enoyl-CoA hydratase 1 deficiency in China.

Bi-allelic mutations in FASTKD5 are associated with cytochrome c oxidase deficiency and early- to late-onset Leigh syndrome.

Hepatic bioenergetics and metabolism in mitochondrial disease: insights from the Ndufs4 KO mouse model.

Disruption of adaptive immunity does not attenuate disease in the Ndufs4(-/-) model of Leigh syndrome.

Autosomal dominant HK1-related neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA): An emerging mitochondrial disorder.

Ndufs4-/- mice: a testing ground for longevity interventions.

A mitochondrial disease model is generated and corrected using engineered base editors in rat zygotes.

Evaluating the feasibility of gene replacement strategies to treat MTRFR deficiency.

Deficiency in the conserved ECHS1 gene causes Leigh syndrome by impairing mitochondrial respiration efficiency and suppressing ADRB2-PKA signaling.

Clinical Phenotype and Neuroimaging Findings in Siblings with COX15 Deficiency: Case Report and Review of Previously Reported Cases.

Exploring the Phenotypic Heterogeneity and Bioenergetic Profile of the m.13513G>A mtDNA Substitution: A Heteroplasmy Perspective.

Reprogramming of two induced pluripotent stem cell clones from a patient with a novel MT-ATP6/8 mutation (m.8570 T > C).

Safe use of sugammadex and 5% dextrose in 0.45% saline in Leigh syndrome.

Complex Metabolomic Changes in a Combined Defect of Glycosylation and Oxidative Phosphorylation in a Patient with Pathogenic Variants in PGM1 and NDUFA13.

Case Report: Unusual Neurological Features of Leigh Syndrome due to m.8993T>G Pathogenic Variant in the MT-ATP6 Gene.

Compound Heterozygous MRPS14 Variants Associated With Leigh Syndrome.

Fatal Acute Necrotizing Encephalopathy in a 17-Year-Old Girl with COVID-19: A Case Report.

Pleiotropic effects of MORC2 derive from its epigenetic signature.

The therapeutic potential of a polyunsaturated fatty acid-enriched high-fat diet in Leigh syndrome: Insights from a preclinical model.

NDUFS8-Related Leigh Syndrome Mimicking a Leukodystrophy.

Mitochondrial complex I deficiency in a 4-year-old boy due to compound heterozygous NDUFV1 mutation: a case report of a new pathogenic variant.

Adult-Onset Bilateral Optic Neuropathy in a Patient with Non-Familial Childhood-Onset Generalized Dystonia Associated with Mitochondrial DNA 14459G>A Mutation: A Case Report and Review of Literature.

The wide phenotypic spectrum of thiamine metabolism dysfunction syndrome 5 and its treatment.

A leigh syndrome mutation perturbs long-range energy coupling in respiratory complex I.

Leigh Syndrome: A Comprehensive Review of the Disease and Present and Future Treatments.

Mitochondrial DNA Pathogenic Variants in Ophthalmic Diseases: A Review.

Adult-onset Leigh syndrome with recurrent seizures and peripheral neuropathy due to the 9176T > C mutation: a case report and literature review.

Small-molecule hypoxia therapy in mitochondrial disease.

Natural History of Patients With Mitochondrial ATPase Deficiency Due to Pathogenic Variants of MT-ATP6 and MT-ATP8.

Ectopic protein lysine methacrylation contributes to defects caused by loss of HIBCH or ECHS1.

Two tales of therapeutic innovations for Leigh syndrome spectrum.

Trends in Research on Hypertrophic Cardiomyopathy and Mitochondria From 2003 to 2023: A Bibliometric Analysis.

HypoxyStat, a small-molecule form of hypoxia therapy that increases oxygen-hemoglobin affinity.

Biallelic NDUFA13 variants lead to a neurodevelopmental phenotype with gradual neurological impairment.

[Combined oxidative phosphorylation deficiency type 7 caused by C12orf65 gene mutations: a case report and literature review].

Adult Leigh Syndrome Associated with the m.15635T>C Mitochondrial DNA Variant Affecting the Cytochrome b (MT-CYB) Gene.

Overview of neuroimaging in primary mitochondrial disorders.

Evaluating the efficacy of vatiquinone in preclinical models of Leigh syndrome and GPX4 deficiency.

Clinical spectrum, treatment and outcomes of the m.10197G>A mutation in MT-ND3: a case report, systematic review and meta-analysis.

Mitochondrial DNA or Genomic DNA Variant(s): Utility of Exhaustive Sequencing in Leigh Syndrome.

From Diabetes to Neuropathy: A Diagnostic Journey to Leigh Syndrome.

Novel intronic variant in NDUFS7 gene results in mitochondrial complex I assembly defect with early basal ganglia and midbrain involvement with progressive neuroimaging findings.

Regardless of the genotype, Leigh syndrome requires comprehensive work-up for clinical or subclinical multisystem involvement.

Characterization of Factors Associated With Death in Deceased Patients With Mitochondrial Disorders: A Multicenter Cross-Sectional Survey.

NADH Reductive Stress and Its Correlation with Disease Severity in Leigh Syndrome: A Pilot Study Using Patient Fibroblasts and a Mouse Model.

Precise modelling of mitochondrial diseases using optimized mitoBEs.

When the Expected Scenario Did Not Occur: A Novel NDUFA12 Mutation Resembling Neuromyelitis Optica Spectrum Disorder.

Complex I deficiency remains the most frequent cause of Leigh syndrome spectrum.

Mitochondrial disorder diagnosis and management- what the pediatric neurologist wants to know.

[Study of the feasibility of polar body transfer combined with preimplantation genetic testing for blocking the intergenerational transmission of mitochondrial genetic diseases].

E4F1 coordinates pyruvate metabolism and the activity of the elongator complex to ensure translation fidelity during brain development.

Biallelic variants in the NDUFAF6 cause mitochondrial respiratory complex assembly defects associated with Leigh syndrome in probands.

Ndufs4 inactivation in glutamatergic neurons reveals swallow-breathing discoordination in a mouse model of Leigh syndrome.

Combined in silico/in vitro approaches for identifying modulators of the activity of the p.Tyr110Cys Carnitine O-Acetyltransferase (CRAT) variant associated to an early onset case of Leigh syndrome.

NDUFAF5 variants cause early onset Leigh syndrome.

Identification of a novel pathogenic gene, NDUFA3, in Leigh Syndrome through whole exome sequencing.

SURF1 Deficiency: Expanding on Disease Phenotype and Assessing Disease Burden by Describing Clinical and Biochemical Phenotype.

DNAJC30 variants can also manifest phenotypically as Leigh/LHON overlap syndrome.

LNC-ing Genetics in Mitochondrial Disease.

WDR45-related encephalopathy mimicking Leigh syndrome associated with complex I deficiency: a case report.

Enhancing genomic disorder prediction through Feynman Concordance and Interpolated Nearest Centroid techniques.

Leigh Syndrome Caused by Compound Heterozygous Variants c.1162A_C and c.1138G_C in the NDUFV1 Gene: A Case Report.

Comprehensive review on leucine-rich pentatricopeptide repeat-containing protein (LRPPRC, PPR protein): A burgeoning target for cancer therapy.

[Clinical characteristics of children with MT-TK gene m.8344A>G variation].

A Comprehensive Approach to the Diagnosis of Leigh Syndrome Spectrum.

Ndufs4 knockout mice with isolated complex I deficiency engage a futile adaptive brain response.

Increased ketone levels as a key magnetic resonance spectroscopic findings during acute exacerbation in ECHS1-related Leigh syndrome.

Disease models of Leigh syndrome: From yeast to organoids.

Bi-Allelic Splicing Variant, c.153-2A > C in TOMM7 Is Associated With Leigh Syndrome.

Primary mitochondrial diseases.

Leigh has no Brakes: Impaired Inhibition in a Mouse Model of Leigh Syndrome Leads to Enhanced Seizure Sensitivity.

Characterization of Shy1, the Schizosaccharomyces pombe homolog of human SURF1.

[Leigh syndrome caused by the mitochondrial m.8993T>G mutation with hypocitrullinemia: a report of four cases and literature review].

Characterization of two iPSC lines from patients with maternally inherited leigh (MILS) and neuropathy, ataxia, and retinitis pigmentosa (NARP) syndrome carrying the MT-ATP6 m.8993 T>G mutation at different degrees of heteroplasmy.

Severe mitochondrial encephalomyopathy caused by de novo variants in OPA1 gene.

Cannabidiol ameliorates mitochondrial disease via PPARγ activation in preclinical models.

Mitochondria transfer-based therapies reduce the morbidity and mortality of Leigh syndrome.

IARS2 mutations lead to Leigh syndrome with a combined oxidative phosphorylation deficiency.

dldhcri3 zebrafish exhibit altered mitochondrial ultrastructure, morphology, and dysfunction partially rescued by probucol or thiamine.

Phenotypic assessment of Cox10 variants and their implications for Leigh Syndrome.

Effects of idebenone treatment in a patient with DNAJC30-associated Leigh Syndrome.

Leigh Syndrome due to MT-ATP6 Variants: A Case Presentation and the Review of the Literature.

The clinical and genetic spectrum of mitochondrial diseases in China: A multicenter retrospective cross-sectional study.

Endocrine Disorders in Children with Primary Mitochondrial Diseases: Single Center Experience.

A Method for Producing Induced Pluripotent Stem Cell-Derived Cardiomyocytes from Leigh Syndrome Patients for Its Application in Disease Modeling and Drug Validation.

Demographic characteristics, diagnostic challenges, treatment patterns, and caregiver burden of mitochondrial diseases: a retrospective cross-sectional study.

Cranial and spinal nerve enhancement in SURF1-associated Leigh syndrome.

Mechanisms and Future Research Perspectives on Mitochondrial Diseases Associated with Isoleucyl-tRNA Synthetase Gene Mutations.

A Fatal Case of 3-Hydroxyisobutyryl-CoA Hydrolase Deficiency in a Term Infant with Severe High Anion Gap Acidosis and Review of the Literature.

Structural robustness of the NADH binding site in NADH:ubiquinone oxidoreductase (complex I).

Primary cilia formation requires the Leigh syndrome-associated mitochondrial protein NDUFAF2.

Evaluating the efficacy of vatiquinone in preclinical models of mitochondrial disease.

Exclusion of sulfide:quinone oxidoreductase from mitochondria causes Leigh-like disease in mice by impairing sulfide metabolism.

Infantile Epileptic Spasms Syndrome Complicated by Leigh Syndrome and Leigh-Like Syndrome: A Retrospective, Nationwide, Multicenter Case Series.

Late-Onset Leigh Syndrome With Protracted Gastrointestinal Manifestations: A Rare Case Report.

Further delineation of short-chain enoyl-CoA hydratase deficiency in the Pacific population.

New Case of Spinocerebellar Ataxia, Autosomal Recessive 4, Due to VPS13D Variants.

Synthetic aporphine alkaloids are potential therapeutics for Leigh syndrome.

Isolation of Mitochondria for Mitochondrial Supercomplex Analysis from Small Tissue and Cell Culture Samples.

The Blood-Brain Barrier Is Unaffected in the Ndufs4-/- Mouse Model of Leigh Syndrome.

Human induced pluripotent stem cells (hiPSCs) derived cells reflect tissue specificity found in patients with Leigh syndrome French Canadian variant (LSFC).

Pyruvate dehydrogenase-E1α deficiency presenting as generalized dystonia: A genetic diagnosis with important clinical implications.

Biallelic Variants of MRPS36 Cause a New Form of Leigh Syndrome.

Interferon-gamma contributes to disease progression in the Ndufs4(-/-) model of Leigh syndrome.

Biallelic NDUFA4 Deletion Causes Mitochondrial Complex IV Deficiency in a Patient with Leigh Syndrome.

NDUFV1-Related Mitochondrial Complex-1 Disorders: A Retrospective Case Series and Literature Review.

Bacterial muropeptides promote OXPHOS and suppress mitochondrial stress in mammals.

A novel mitochondrial DNA variant in MT-ND6: m.14430A>C p.(Trp82Gly) identified in a patient with Leigh syndrome and complex I deficiency.

Incidental Finding of MEGDEL Syndrome at a Tertiary Care Center in Saudi Arabia.

Sulfide catabolism in hibernation and neuroprotection.

Digenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variant.

Alternative splicing expands the clinical spectrum of NDUFS6-related mitochondrial disorders.

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.