Leigh Syndrome: A Tale of Two Genomes

Advances in mt-tRNA Mutation-Caused Mitochondrial Disease Modeling: Patients’ Brain in a Dish

(2021) Suleva Povea-Cabello et al.   Frontiers in Genetics

Hypoxia ameliorates brain hyperoxia and NAD+ deficiency in a murine model of Leigh syndrome

(2021) Robert M.H. Grange et al.   MOLECULAR GENETICS AND METABOLISM

The Power of Yeast in Modelling Human Nuclear Mutations Associated with Mitochondrial Diseases

(2021) Camilla Ceccatelli Berti et al.   Genes

A Yeast-Based Screening Unravels Potential Therapeutic Molecules for Mitochondrial Diseases Associated with Dominant ANT1 Mutations

(2021) Giulia di Punzio et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Adapting CRISPR/Cas9 System for Targeting Mitochondrial Genome

(2021) Syed-Rehan A. Hussain et al.   Frontiers in Genetics

Effect of rapamycin on mitochondria and lysosomes in fibroblasts from patients with mtDNA mutations

(2021) Nashwa J. Cheema et al.   AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY

Mortality of Japanese patients with Leigh syndrome: Effects of age at onset and genetic diagnosis

(2020) Erika Ogawa et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Strategies for fighting mitochondrial diseases

(2020) Carlo Viscomi et al.   JOURNAL OF INTERNAL MEDICINE

A meta-analysis and systematic review of Leigh syndrome

(2020) Xueli Chang et al.   MEDICINE

Pink1‐mitophagy and Nrf2‐stress response mediated novel mitochondrial retrograde signaling affects RPE structure and function

(2020) Sayantan Datta et al.   FASEB JOURNAL

Cell-permeable succinate prodrugs rescue mitochondrial respiration in cellular models of acute acetaminophen overdose

(2020) Sarah Piel et al.   PLoS One

Clinical Characteristics of Early-Onset and Late-Onset Leigh Syndrome

(2020) Chan-Mi Hong et al.   Frontiers in Neurology

NDUFS4 deletion triggers loss of NDUFA12 in Ndufs4 mice and Leigh syndrome patients: A stabilizing role for NDUFAF2

(2020) Merel J.W. Adjobo-Hermans et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

Parkin-mediated mitophagy and autophagy flux disruption in cellular models of MERRF syndrome

(2020) Marina Villanueva-Paz et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

A bacterial cytidine deaminase toxin enables CRISPR-free mitochondrial base editing

(2020) Beverly Y. Mok et al.   NATURE

Mitochondrial respiratory chain complex I dysfunction induced by N-methyl carbamate ex vivo can be alleviated with a cell-permeable succinate prodrug

(2020) Joanna I. Janowska et al.   TOXICOLOGY IN VITRO

Use of Customizable Nucleases for Gene Editing and Other Novel Applications

(2020) Pradeep Reddy et al.   Genes

The mitochondria‐targeted hydrogen sulfide donor AP39 improves health and mitochondrial function in a C. elegans primary mitochondrial disease model

(2020) Bridget C. Fox et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Mutations in the mitochondrial complex I assembly factor NDUFAF6 cause isolated bilateral striatal necrosis and progressive dystonia in childhood

(2019) Heidy Baide-Mairena et al.   MOLECULAR GENETICS AND METABOLISM

Unraveling Novel Mechanisms of Neurodegeneration Through a Large-Scale Forward Genetic Screen in Drosophila

(2019) Samantha L. Deal et al.   Frontiers in Genetics

Leigh syndrome caused by mutations in MTFMT is associated with a better prognosis

(2019) Hannah Hayhurst et al.   Annals of Clinical and Translational Neurology

MT-ATP6 mitochondrial disease variants: Phenotypic and biochemical features analysis in 218 published cases and cohort of 14 new cases

(2019) Rebecca D. Ganetzky et al.   HUMAN MUTATION

Pathophysiological characterization of MERRF patient-specific induced neurons generated by direct reprogramming

(2019) Marina Villanueva-Paz et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

mRNA Reprogramming of T8993G Leigh's Syndrome Fibroblast Cells to Create Induced Pluripotent Stem Cell Models for Mitochondrial Disorders

(2019) Harrison E. Grace et al.   STEM CELLS AND DEVELOPMENT

A Chinese Family With Adult-Onset Leigh-Like Syndrome Caused by the Heteroplasmic m.10191T>C Mutation in the Mitochondrial MTND3 Gene

(2019) Tao-Ran Li et al.   Frontiers in Neurology

Epilepsy in Leigh Syndrome With Mitochondrial DNA Mutations

(2019) Sunho Lee et al.   Frontiers in Neurology

Exploring mTOR inhibition as treatment for mitochondrial disease

(2019) Abigail Sage‐Schwaede et al.   Annals of Clinical and Translational Neurology

Leigh Syndrome Mouse Model Can Be Rescued by Interventions that Normalize Brain Hyperoxia, but Not HIF Activation

(2019) Isha H. Jain et al.   Cell Metabolism

Breathe: Your Mitochondria Will Do the Rest… If They Are Healthy!

(2019) Carlo Viscomi et al.   Cell Metabolism

Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency

(2019) Charlotte L. Alston et al.   AMERICAN JOURNAL OF HUMAN GENETICS

NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy

(2018) Dorota Piekutowska-Abramczuk et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Nutritional Interventions for Mitochondrial OXPHOS Deficiencies: Mechanisms and Model Systems

(2018) Adam J. Kuszak et al.   Annual Review of Pathology-Mechanisms of Disease

SURF1 mutations in Chinese patients with Leigh syndrome: Novel mutations, mutation spectrum, and the functional consequences

(2018) Yuanyuan Li et al.   GENE

Mito-Nuclear Interactions Affecting Lifespan and Neurodegeneration in aDrosophilaModel of Leigh Syndrome

(2018) Carin A. Loewen et al.   GENETICS

USMG5 Ashkenazi Jewish founder mutation impairs mitochondrial complex V dimerization and ATP synthesis

(2018) Emanuele Barca et al.   HUMAN MOLECULAR GENETICS

Compound heterozygous missense and deep intronic variants in NDUFAF6 unraveled by exome sequencing and mRNA analysis

(2018) Alessia Catania et al.   JOURNAL OF HUMAN GENETICS

A family segregating lethal neonatal coenzyme Q10 deficiency caused by mutations in COQ9

(2018) Amanda C. Smith et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Novel insights into the functional metabolic impact of an apparent de novo m.8993T>G variant in the MT-ATP6 gene associated with maternally inherited form of Leigh Syndrome

(2018) Martine Uittenbogaard et al.   MOLECULAR GENETICS AND METABOLISM

N -acetylcysteine and vitamin E rescue animal longevity and cellular oxidative stress in pre-clinical models of mitochondrial complex I disease

(2018) Erzsebet Polyak et al.   MOLECULAR GENETICS AND METABOLISM

High-resolution cryo-EM analysis of the yeast ATP synthase in a lipid membrane

(2018) Anurag P. Srivastava et al.   SCIENCE

Targeted elimination of mutant mitochondrial DNA in MELAS-iPSCs by mitoTALENs

(2018) Yi Yang et al.   Protein & Cell

Mito-Nuclear Interactions Affecting Lifespan and Neurodegeneration in aDrosophilaModel of Leigh Syndrome

(2018) Carin A. Loewen et al.   GENETICS

A Novel NDUFS3 mutation in a Chinese patient with severe Leigh syndrome

(2018) Xiaoting Lou et al.   JOURNAL OF HUMAN GENETICS

Mitochondrial DNA mutations in late-onset Leigh syndrome

(2018) Yanping Wei et al.   JOURNAL OF NEUROLOGY

Genome editing in mitochondria corrects a pathogenic mtDNA mutation in vivo

(2018) Payam A. Gammage et al.   NATURE MEDICINE

Clinical spectrum of BCS1L Mitopathies and their underlying structural relationships

(2018) Rachael A. Baker et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Towards a therapy for mitochondrial disease: an update

(2018) Caterina Garone et al.   BIOCHEMICAL SOCIETY TRANSACTIONS

Clinical, Neuroimaging, and Pathological Analyses of 13 Chinese Leigh Syndrome Patients with Mitochondrial DNA Mutations

(2018) Xiao-Lin Yu et al.   CHINESE MEDICAL JOURNAL

Does mitochondrial DNA evolution in metazoa drive the origin of new mitochondrial proteins?

(2018) S. L. van Esveld et al.   IUBMB LIFE

PARL deficiency in mouse causes Complex III defects, coenzyme Q depletion, and Leigh-like syndrome

(2018) Marco Spinazzi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Rescue from galactose-induced death of Leigh Syndrome patient cells by pyruvate and NAD+

(2018) Eligio F. Iannetti et al.   Cell Death & Disease

NDUFAF4 variants are associated with Leigh syndrome and cause a specific mitochondrial complex I assembly defect

(2017) Fabian Baertling et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Mitochondrial genetics and therapeutic overview of Leber's hereditary optic neuropathy

(2017) Sivasamy Ramasamy et al.   INDIAN JOURNAL OF OPHTHALMOLOGY

Clinical validity of biochemical and molecular analysis in diagnosing Leigh syndrome: a study of 106 Japanese patients

(2017) Erika Ogawa et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Phenotype-genotype correlations in Leigh syndrome: new insights from a multicentre study of 96 patients

(2017) Kalliopi Sofou et al.   JOURNAL OF MEDICAL GENETICS

Leigh syndrome in individuals bearing m.9185T>C MTATP6 variant. Is hyperventilation a factor which starts its development?

(2017) Dorota Piekutowska-Abramczuk et al.   METABOLIC BRAIN DISEASE

Assisted reproductive technologies to prevent human mitochondrial disease transmission

(2017) Andy Greenfield et al.   NATURE BIOTECHNOLOGY

Microbial metabolites regulate host lipid metabolism through NR5A–Hedgehog signalling

(2017) Chih-Chun Janet Lin et al.   NATURE CELL BIOLOGY

Involvement of Cerebellum in Leigh Syndrome: Case Report and Review of the Literature

(2017) Nitish Chourasia et al.   PEDIATRIC NEUROLOGY

Hypoxia treatment reverses neurodegenerative disease in a mouse model of Leigh syndrome

(2017) Michele Ferrari et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Live birth derived from oocyte spindle transfer to prevent mitochondrial disease

(2017) John Zhang et al.   REPRODUCTIVE BIOMEDICINE ONLINE

Mitochondrial genome and longevity

(2016) R. A. Zinovkin et al.   BIOCHEMISTRY-MOSCOW

Mitochondrial ROS Produced via Reverse Electron Transport Extend Animal Lifespan

(2016) Filippo Scialò et al.   Cell Metabolism

Respiratory chain inhibition: one more feature to propose MPTP intoxication as a Leigh syndrome model

(2016) Barbara Da Costa et al.   JOURNAL OF BIOENERGETICS AND BIOMEMBRANES

Leigh Syndrome in Childhood: Neurologic Progression and Functional Outcome

(2016) Jin Sook Lee et al.   Journal of Clinical Neurology

Novel mutation of ND4 gene identified by targeted next-generation sequencing in patient with Leigh syndrome

(2016) Bing Xu et al.   JOURNAL OF HUMAN GENETICS

3697G>A in MT-ND1 is a causative mutation in mitochondrial disease

(2016) Lucía Spangenberg et al.   MITOCHONDRION

A Mutation in the Flavin Adenine Dinucleotide-Dependent Oxidoreductase FOXRED1 Results in Cell-Type-Specific Assembly Defects in Oxidative Phosphorylation Complexes I and II

(2016) Olga Zurita Rendón et al.   MOLECULAR AND CELLULAR BIOLOGY

Applying the Airbrakes: Treating Mitochondrial Disease with Hypoxia

(2016) Oliver M. Russell et al.   MOLECULAR CELL

Leigh syndrome: Resolving the clinical and genetic heterogeneity paves the way for treatment options

(2016) Mike Gerards et al.   MOLECULAR GENETICS AND METABOLISM

Towards clinical application of pronuclear transfer to prevent mitochondrial DNA disease

(2016) Louise A. Hyslop et al.   NATURE

Mitochondrial replacement in human oocytes carrying pathogenic mitochondrial DNA mutations

(2016) Eunju Kang et al.   NATURE

Near-complete elimination of mutant mtDNA by iterative or dynamic dose-controlled treatment with mtZFNs

(2016) Payam A. Gammage et al.   NUCLEIC ACIDS RESEARCH

Mitochondrial disease therapy from thin air?

(2016) E. A. Shoubridge   SCIENCE

Hypoxia as a therapy for mitochondrial disease

(2016) I. H. Jain et al.   SCIENCE

Generation of a human iPSC line from a patient with a mitochondrial encephalopathy due to mutations in the GFM1 gene

(2016) Francisco Zurita-Díaz et al.   Stem Cell Research

Generation of a human iPSC line from a patient with Leigh syndrome caused by a mutation in the MT-ATP6 gene

(2016) Teresa Galera-Monge et al.   Stem Cell Research

Cell-permeable succinate prodrugs bypass mitochondrial complex I deficiency

(2016) Johannes K. Ehinger et al.   Nature Communications

Maintenance of age in human neurons generated by microRNA-based neuronal conversion of fibroblasts

(2016) Christine J Huh et al.   eLife

Loss of Frataxin induces iron toxicity, sphingolipid synthesis, and Pdk1/Mef2 activation, leading to neurodegeneration

(2016) Kuchuan Chen et al.   eLife

Leigh syndrome: One disorder, more than 75 monogenic causes

(2015) Nicole J. Lake et al.   ANNALS OF NEUROLOGY

Loss of the smallest subunit of cytochromecoxidase, COX8A, causes Leigh-like syndrome and epilepsy

(2015) Kerstin Hallmann et al.   BRAIN

LRPPRCmutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population

(2015) Monika Oláhová et al.   BRAIN

Free-thiamine is a potential biomarker of thiamine transporter-2 deficiency: a treatable cause of Leigh syndrome

(2015) Juan Darío Ortigoza-Escobar et al.   BRAIN

Selective Elimination of Mitochondrial Mutations in the Germline by Genome Editing

(2015) Pradeep Reddy et al.   CELL

Directly Reprogrammed Human Neurons Retain Aging-Associated Transcriptomic Signatures and Reveal Age-Related Nucleocytoplasmic Defects

(2015) Jerome Mertens et al.   Cell Stem Cell

Exome sequencing identifies complex I NDUFV2 mutations as a novel cause of Leigh syndrome

(2015) Jessie M. Cameron et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Subacute necrotising encephalomyelopathy (Leigh's disease; Leigh syndrome)

(2015) P N Leigh et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Metabolic rescue in pluripotent cells from patients with mtDNA disease

(2015) Hong Ma et al.   NATURE

Mutations causing mitochondrial disease: What is new and what challenges remain?

(2015) R. N. Lightowlers et al.   SCIENCE

MTO1 mediates tissue specificity of OXPHOS defects via tRNA modification and translation optimization, which can be bypassed by dietary intervention

(2015) Christin Tischner et al.   HUMAN MOLECULAR GENETICS

Mutations in GTPBP3 Cause a Mitochondrial Translation Defect Associated with Hypertrophic Cardiomyopathy, Lactic Acidosis, and Encephalopathy

(2014) Robert Kopajtich et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Founder Mutation in PET100 Causes Isolated Complex IV Deficiency in Lebanese Individuals with Leigh Syndrome

(2014) Sze Chern Lim et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Characterisation of the active/de-active transition of mitochondrial complex I

(2014) Marion Babot et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

Ophthalmological manifestations in patients with Leigh syndrome

(2014) J. Han et al.   BRITISH JOURNAL OF OPHTHALMOLOGY

NAD+-Dependent Activation of Sirt1 Corrects the Phenotype in a Mouse Model of Mitochondrial Disease

(2014) Raffaele Cerutti et al.   Cell Metabolism

Mitochondrially targeted ZFNs for selective degradation of pathogenic mitochondrial genomes bearing large-scale deletions or point mutations

(2014) P. A. Gammage et al.   EMBO Molecular Medicine

Mitochondria, Energetics, Epigenetics, and Cellular Responses to Stress

(2014) Daniel T. Shaughnessy et al.   ENVIRONMENTAL HEALTH PERSPECTIVES

SDHA mutations causing a multisystem mitochondrial disease: novel mutations and genetic overlap with hereditary tumors

(2014) G Herma Renkema et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Loss of LRPPRC causes ATP synthase deficiency

(2014) A. Mourier et al.   HUMAN MOLECULAR GENETICS

Leigh Syndrome inDrosophila melanogaster

(2014) Caterina Da-Rè et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Homoplasmy of a mitochondrial 3697G>A mutation causes Leigh syndrome

(2014) Yutaka Negishi et al.   JOURNAL OF HUMAN GENETICS

Defects of thiamine transport and metabolism

(2014) Garry Brown   JOURNAL OF INHERITED METABOLIC DISEASE

Expanding the clinical and molecular spectrum of thiamine pyrophosphokinase deficiency: A treatable neurological disorder caused by TPK1 mutations

(2014) Siddharth Banka et al.   MOLECULAR GENETICS AND METABOLISM

Mitochondrial EFTs defects in juvenile-onset Leigh disease, ataxia, neuropathy, and optic atrophy

(2014) S. Ahola et al.   NEUROLOGY

A complete landscape of post-transcriptional modifications in mammalian mitochondrial tRNAs

(2014) T. Suzuki et al.   NUCLEIC ACIDS RESEARCH

Thiamine transporter-2 deficiency: outcome and treatment monitoring

(2014) Juan Ortigoza-Escobar et al.   Orphanet Journal of Rare Diseases

A multicenter study on Leigh syndrome: disease course and predictors of survival

(2014) Kalliopi Sofou et al.   Orphanet Journal of Rare Diseases

Rapid Identification of a Novel Complex I MT-ND3 m.10134C>A Mutation in a Leigh Syndrome Patient

(2014) David K. Miller et al.   PLoS One

NewMT-ND6andNDUFA1mutations in mitochondrial respiratory chain disorders

(2014) Natsumi Uehara et al.   Annals of Clinical and Translational Neurology

Use of Caenorhabditis elegans as a model to study Alzheimer’s disease and other neurodegenerative diseases

(2014) Adanna G. Alexander et al.   Frontiers in Genetics

Molecular mechanisms underlying genotype-dependent responses to dietary restriction

(2013) Jennifer Schleit et al.   AGING CELL

Severe infantile leigh syndrome associated with a rare mitochondrialND6mutation, m.14487T>C

(2013) Mark Tarnopolsky et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Complex II deficiency-A case report and review of the literature

(2013) Shailly Jain-Ghai et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Molecular mechanism and physiological role of active–deactive transition of mitochondrial complex I

(2013) Marion Babot et al.   BIOCHEMICAL SOCIETY TRANSACTIONS

Human mitochondrial NDUFS3 protein bearing Leigh syndrome mutation is more prone to aggregation than its wild-type

(2013) Tulika M. Jaokar et al.   BIOCHIMIE

Idebenone treatment in patients with OPA1-mutant dominant optic atrophy

(2013) Piero Barboni et al.   BRAIN

Exome sequencing reveals a novel Moroccan founder mutation inSLC19A3as a new cause of early-childhood fatal Leigh syndrome

(2013) Mike Gerards et al.   BRAIN

Clinical and magnetic resonance imaging findings in patients with Leigh syndrome and SURF1 mutations

(2013) Kothari Sonam et al.   BRAIN & DEVELOPMENT

Genetic and biochemical findings in Chinese children with Leigh syndrome

(2013) Yan-Yan Ma et al.   JOURNAL OF CLINICAL NEUROSCIENCE

A guide to diagnosis and treatment of Leigh syndrome

(2013) F. Baertling et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

A new mutation in MT-ND1 m.3928G>C p.V208L causes Leigh disease with infantile spasms

(2013) Carter D. Wray et al.   MITOCHONDRION

Specific elimination of mutant mitochondrial genomes in patient-derived cells by mitoTALENs

(2013) Sandra R Bacman et al.   NATURE MEDICINE

The mitochondrial disease associated protein Ndufaf2 is dispensable for Complex-1 assembly but critical for the regulation of oxidative stress

(2013) Julia S. Schlehe et al.   NEUROBIOLOGY OF DISEASE

SURF1 deficiency: a multi-centre natural history study

(2013) Yehani Wedatilake et al.   Orphanet Journal of Rare Diseases

Impaired complex IV activity in response to loss of LRPPRC function can be compensated by mitochondrial hyperfusion

(2013) S. G. Rolland et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

mTOR Inhibition Alleviates Mitochondrial Disease in a Mouse Model of Leigh Syndrome

(2013) S. C. Johnson et al.   SCIENCE

NDUFA4 Mutations Underlie Dysfunction of a Cytochrome c Oxidase Subunit Linked to Human Neurological Disease

(2013) Robert D.S. Pitceathly et al.   Cell Reports

DNA methylation age of human tissues and cell types

(2013) Steve Horvath   GENOME BIOLOGY

A patient with congenital hyperlactataemia and Leigh syndrome: an uncommon mitochondrial variant

(2013) CK Ching et al.   HONG KONG MEDICAL JOURNAL

Mutations of the Mitochondrial-tRNA Modifier MTO1 Cause Hypertrophic Cardiomyopathy and Lactic Acidosis

(2012) Daniele Ghezzi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Cybrid studies establish the causal link between the mtDNA m.3890G>A/MT-ND1 mutation and optic atrophy with bilateral brainstem lesions

(2012) Leonardo Caporali et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

The clinical spectrum of the m.10191T>C mutation in complex I-deficient Leigh syndrome

(2012) VICTORIA NESBITT et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

OXPHOS mutations and neurodegeneration

(2012) Werner J H Koopman et al.   EMBO JOURNAL

Mitochondrial Gene Therapy Improves Respiration, Biogenesis, and Transcription in G11778A Leber's Hereditary Optic Neuropathy and T8993G Leigh's Syndrome Cells

(2012) Shilpa Iyer et al.   HUMAN GENE THERAPY

Fatal breathing dysfunction in a mouse model of Leigh syndrome

(2012) Albert Quintana et al.   JOURNAL OF CLINICAL INVESTIGATION

Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases

(2012) S. Koene et al.   JOURNAL OF INHERITED METABOLIC DISEASE

EPI-743 reverses the progression of the pediatric mitochondrial disease—Genetically defined Leigh Syndrome

(2012) Diego Martinelli et al.   MOLECULAR GENETICS AND METABOLISM

The spectrum of pyruvate dehydrogenase complex deficiency: Clinical, biochemical and genetic features in 371 patients

(2012) Kavi P. Patel et al.   MOLECULAR GENETICS AND METABOLISM

Leukoencephalopathy with accumulated succinate is indicative of SDHAF1 related complex II deficiency

(2012) Andreas Ohlenbusch et al.   Orphanet Journal of Rare Diseases

Clinical and molecular features of an infant patient affected by Leigh Disease associated to m.14459G > A mitochondrial DNA mutation: a case report

(2011) Dario Ronchi et al.   BMC Neurology

Idebenone Treatment In Leber's Hereditary Optic Neuropathy

(2011) V. Carelli et al.   BRAIN

Mutations in MTFMT Underlie a Human Disorder of Formylation Causing Impaired Mitochondrial Translation

(2011) Elena J. Tucker et al.   Cell Metabolism

A novel NDUFV1 gene mutation in complex I deficiency in consanguineous siblings with brainstem lesions and Leigh syndrome

(2011) C Vilain et al.   CLINICAL GENETICS

Defective NDUFA9 as a novel cause of neonatally fatal complex I disease

(2011) B J C van den Bosch et al.   JOURNAL OF MEDICAL GENETICS

Respiratory chain complex I deficiency due to NDUFA12 mutations as a new cause of Leigh syndrome

(2011) E. Ostergaard et al.   JOURNAL OF MEDICAL GENETICS

LRPPRC mutations cause a phenotypically distinct form of Leigh syndrome with cytochrome c oxidase deficiency

(2011) F.-G. Debray et al.   JOURNAL OF MEDICAL GENETICS

Leigh syndrome caused by a novel m.4296G>A mutation in mitochondrial tRNA isoleucine

(2011) Rachel Cox et al.   MITOCHONDRION

Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies

(2011) Daniele Ghezzi et al.   NATURE GENETICS

The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families

(2010) Helen A. L. Tuppen et al.   BRAIN

Bacteria, yeast, worms, and flies: Exploiting simple model organisms to investigate human mitochondrial diseases

(2010) Shane L. Rea et al.   Developmental Disabilities Research Reviews

NDUFA10 mutations cause complex I deficiency in a patient with Leigh disease

(2010) Saskia J G Hoefs et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy

(2010) Elisa Fassone et al.   HUMAN MOLECULAR GENETICS

A neurological perspective on mitochondrial disease

(2010) Robert McFarland et al.   LANCET NEUROLOGY

Illness-induced exacerbation of Leigh syndrome in a patient with the MTATP6 mutation, m. 9185 T>C

(2010) Russell P. Saneto et al.   MITOCHONDRION

Leigh disease presenting in utero due to a novel missense mutation in the mitochondrial DNA–ND3

(2010) Esther Leshinsky-Silver et al.   MOLECULAR GENETICS AND METABOLISM

High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency

(2010) Sarah E Calvo et al.   NATURE GENETICS

Mitochondrial DNA 11777C>A Mutation Associated Leigh Syndrome: Case Report with a Review of the Previously Described Pedigrees

(2010) Kinga Hadzsiev et al.   NEUROMOLECULAR MEDICINE

A Novel Mutation in the SCO2 Gene in a Neonate With Early-Onset Cardioencephalomyopathy

(2010) Kairit Joost et al.   PEDIATRIC NEUROLOGY

Complex I deficiency due to loss of Ndufs4 in the brain results in progressive encephalopathy resembling Leigh syndrome

(2010) A. Quintana et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mitochondrial DNA mutations and human disease

(2009) Helen A.L. Tuppen et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

Cytochrome c oxidase deficiency: Patients and animal models

(2009) Francisca Diaz   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Biochemical consequences in yeast of the human mitochondrial DNA 8993T>C mutation in the ATPase6 gene found in NARP/MILS patients

(2009) Roza Kucharczyk et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Mitochondrial DNA background modifies the bioenergetics of NARP/MILS ATP6 mutant cells

(2009) M. D'Aurelio et al.   HUMAN MOLECULAR GENETICS

Baculovirus complementation restores a novelNDUFAF2mutation causing complex I deficiency

(2009) Saskia J.G. Hoefs et al.   HUMAN MUTATION

Drosophila melanogaster as a Model Organism of Brain Diseases

(2009) Astrid Jeibmann et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Mutations in ND Subunits of Complex I Are an Important Genetic Cause of Childhood Mitochondrial Encephalopathies

(2009) Byung Chan Lim et al.   JOURNAL OF CHILD NEUROLOGY

PDH E1β deficiency with novel mutations in two patients with Leigh syndrome

(2009) E. Quintana et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Defective complex I assembly due to C20orf7 mutations as a new cause of Leigh syndrome

(2009) M. Gerards et al.   JOURNAL OF MEDICAL GENETICS

C. elegans longevity pathways converge to decrease mitochondrial membrane potential

(2009) Bernard D. Lemire et al.   MECHANISMS OF AGEING AND DEVELOPMENT

MPTP intoxication in mice: a useful model of Leigh syndrome to study mitochondrial diseases in childhood

(2009) E. Lagrue et al.   METABOLIC BRAIN DISEASE

Recombinant mitochondrial transcription factor A with N-terminal mitochondrial transduction domain increases respiration and mitochondrial gene expression

(2009) Shilpa Iyer et al.   MITOCHONDRION

Mitochondrial respiratory chain dysfunction variably increases oxidant stress in Caenorhabditis elegans

(2009) Stephen Dingley et al.   MITOCHONDRION

What have worm models told us about the mechanisms of neuronal dysfunction in human neurodegenerative diseases?

(2009) Dawn Teschendorf et al.   Molecular Neurodegeneration

Mitochondrial gene replacement in primate offspring and embryonic stem cells

(2009) Masahito Tachibana et al.   NATURE

SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy

(2009) Daniele Ghezzi et al.   NATURE GENETICS

Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome

(2009) Woranontee Weraarpachai et al.   NATURE GENETICS

Rolandic Mitochondrial Encephalomyelopathy and MT-ND3 Mutations

(2009) Klaus G.E. Werner et al.   PEDIATRIC NEUROLOGY

C6ORF66 Is an Assembly Factor of Mitochondrial Complex I

(2008) Ann Saada et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mitochondrial Complex III Deficiency Associated with a Homozygous Mutation in UQCRQ

(2008) Ortal Barel et al.   AMERICAN JOURNAL OF HUMAN GENETICS

NDUFA2 Complex I Mutation Leads to Leigh Disease

(2008) Saskia J.G. Hoefs et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mitochondrial complex I deficiency caused by a deleterious NDUFA11 mutation

(2008) Itai Berger et al.   ANNALS OF NEUROLOGY

The G13513A Mutation in the ND5 Gene of Mitochondrial DNA as a Common Cause of MELAS or Leigh Syndrome

(2008) Sara Shanske et al.   ARCHIVES OF NEUROLOGY

How mitochondria produce reactive oxygen species

(2008) Michael P. Murphy   BIOCHEMICAL JOURNAL

MtDNA mutations are a common cause of severe disease phenotypes in children with Leigh syndrome

(2008) Karin Naess et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

Mouse models of oxidative phosphorylation defects: Powerful tools to study the pathobiology of mitochondrial diseases

(2008) Alessandra Torraco et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Mitochondrial ATP synthase disorders: Molecular mechanisms and the quest for curative therapeutic approaches

(2008) Roza Kucharczyk et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

RETRACTED: Activation of the PPAR/PGC-1α Pathway Prevents a Bioenergetic Deficit and Effectively Improves a Mitochondrial Myopathy Phenotype

(2008) Tina Wenz et al.   Cell Metabolism

Activation of Peroxisome Proliferator-Activated Receptor Pathway Stimulates the Mitochondrial Respiratory Chain and Can Correct Deficiencies in Patients’ Cells Lacking Its Components

(2008) Jean Bastin et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

The ketogenic diet increases mitochondrial glutathione levels

(2008) Stuart G. Jarrett et al.   JOURNAL OF NEUROCHEMISTRY

Efficacy of idebenone for respiratory failure in a patient with Leigh syndrome: A long-term follow-up study

(2008) Kazuhiro Haginoya et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Mouse models of oxidative phosphorylation dysfunction and disease

(2008) Uma D. Vempati et al.   METHODS

Two mtDNA mutations 14487T>C (M63V, ND6) and 12297T>C (tRNA Leu) in a Leigh syndrome family

(2008) Jing Wang et al.   MOLECULAR GENETICS AND METABOLISM

Progressive Encephalopathy and Complex I Deficiency Associated with Mutations in MTND1

(2008) A.-R. Moslemi et al.   NEUROPEDIATRICS

MR Spectroscopy and Serial Magnetic Resonance Imaging in a Patient with Mitochondrial Cystic Leukoencephalopathy due to Complex I Deficiency andNDUFV1Mutations and Mild Clinical Course

(2008) D. Zafeiriou et al.   NEUROPEDIATRICS

Overexpression of human mitochondrial valyl tRNA synthetase can partially restore levels of cognate mt-tRNAVal carrying the pathogenic C25U mutation

(2008) Joanna Rorbach et al.   NUCLEIC ACIDS RESEARCH

Development of a single-chain, quasi-dimeric zinc-finger nuclease for the selective degradation of mutated human mitochondrial DNA

(2008) Michal Minczuk et al.   NUCLEIC ACIDS RESEARCH

Leigh and Leigh-Like Syndrome in Children and Adults

(2008) Josef Finsterer   PEDIATRIC NEUROLOGY

A Mouse Model of Mitochondrial Disease Reveals Germline Selection Against Severe mtDNA Mutations

(2008) Weiwei Fan et al.   SCIENCE