Leigh syndrome: One disorder, more than 75 monogenic causes

Opa1 Overexpression Ameliorates the Phenotype of Two Mitochondrial Disease Mouse Models

(2015) Gabriele Civiletto et al.   Cell Metabolism

Redox signalling and mitochondrial stress responses; lessons from inborn errors of metabolism

(2015) Rikke K. J. Olsen et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Emerging aspects of treatment in mitochondrial disorders

(2015) Shamima Rahman   JOURNAL OF INHERITED METABOLIC DISEASE

Whole exome sequencing of suspected mitochondrial patients in clinical practice

(2015) Saskia B. Wortmann et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Leigh Syndrome

(2015) Nicole J. Lake et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Mutations in TTC19: expanding the molecular, clinical and biochemical phenotype

(2015) Johannes Koch et al.   Orphanet Journal of Rare Diseases

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

Neuronal and astrocyte dysfunction diverges from embryonic fibroblasts in theNdufs4fky/fkymouse

(2014) Matthew J. Bird et al.   BIOSCIENCE REPORTS

ECHS1 mutations in Leigh disease: a new inborn error of metabolism affecting valine metabolism

(2014) Heidi Peters et al.   BRAIN

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

(2014) Raffaele Cerutti et al.   Cell Metabolism

Salvaging hope: Is increasing NAD+ a key to treating mitochondrial myopathy?

(2014) R. N. Lightowlers et al.   EMBO Molecular Medicine

Loss of LRPPRC causes ATP synthase deficiency

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

Founder p.Arg 446* mutation in the PDHX gene explains over half of cases with congenital lactic acidosis in Roma children

(2014) Ivan S. Ivanov et al.   MOLECULAR GENETICS AND METABOLISM

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

Metabolic costs and evolutionary implications of human brain development

(2014) C. W. Kuzawa et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mapping NAD+ metabolism in the brain of ageing Wistar rats: potential targets for influencing brain senescence

(2013) Nady Braidy et al.   BIOGERONTOLOGY

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

(2013) Mike Gerards et al.   BRAIN

Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5

(2013) Peter R. Baker et al.   BRAIN

Two compound frame-shift mutations in succinate dehydrogenase gene of a Chinese boy with encephalopathy

(2013) Yan-Yan Ma et al.   BRAIN & DEVELOPMENT

Next-generation sequencing for mitochondrial disorders

(2013) C J Carroll et al.   BRITISH JOURNAL OF PHARMACOLOGY

Decreased in vitro Mitochondrial Function is Associated with Enhanced Brain Metabolism, Blood Flow, and Memory in Surfl-Deficient Mice

(2013) Ai-Ling Lin et al.   JOURNAL OF CEREBRAL BLOOD FLOW AND METABOLISM

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

The natural history of SCO2 deficiency in 36 Polish children confirmed the genotype–phenotype correlation

(2013) Ewa Pronicka et al.   MITOCHONDRION

Mitochondrial dysfunction and the inflammatory response

(2013) María J. López-Armada et al.   MITOCHONDRION

Biotinidase knockout mice show cellular energy deficit and altered carbon metabolism gene expression similar to that of nutritional biotin deprivation: Clues for the pathogenesis in the human inherited disorder

(2013) A. Hernández-Vázquez et al.   MOLECULAR GENETICS AND METABOLISM

Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening

(2013) Tobias B. Haack et al.   MOLECULAR GENETICS AND METABOLISM

HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase

(2013) Sacha Ferdinandusse et al.   Orphanet Journal of Rare Diseases

SURF1 deficiency: a multi-centre natural history study

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

Mutations in human lipoyltransferase gene LIPT1 cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase

(2013) Yohan Soreze et al.   Orphanet Journal of Rare Diseases

Anesthetic considerations in patients with mitochondrial defects

(2013) Julie Niezgoda et al.   PEDIATRIC ANESTHESIA

Leigh Syndrome in a Girl With a Novel DLD Mutation Causing E3 Deficiency

(2013) Shane C. Quinonez et al.   PEDIATRIC NEUROLOGY

Primary Respiratory Chain Disease Causes Tissue-Specific Dysregulation of the Global Transcriptome and Nutrient-Sensing Signaling Network

(2013) Zhe Zhang et al.   PLoS One

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

A constant and similar assembly defect of mitochondrial respiratory chain complex I allows rapid identification of NDUFS4 mutations in patients with Leigh syndrome

(2012) Z. Assouline et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Polymerase gamma deficiency (POLG): Clinical course in a child with a two stage evolution from infantile myocerebrohepatopathy spectrum to an Alpers syndrome and neuropathological findings of Leigh’s encephalopathy

(2012) Emmanuel Scalais et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Leigh syndrome associated with mitochondrial complex I deficiency due to novel mutations In NDUFV1 and NDUFS2

(2012) Samantha E. Marin et al.   GENE

Leigh Syndrome and the Mitochondrial m.13513G>A Mutation

(2012) Laura Monlleo-Neila et al.   JOURNAL OF CHILD NEUROLOGY

Late-adult onset Leigh syndrome

(2012) Penelope McKelvie et al.   JOURNAL OF CLINICAL NEUROSCIENCE

Complex I deficiency: clinical features, biochemistry and molecular genetics

(2012) Elisa Fassone et al.   JOURNAL OF MEDICAL GENETICS

Spectrum of neurological and survival outcomes in pyruvate dehydrogenase complex (PDC) deficiency: Lack of correlation with genotype

(2012) Suzanne D. DeBrosse 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

Mitochondrial DNA depletion syndrome: New descriptions and the use of citrate synthase as a helpful tool to better characterise the patients

(2012) Aleix Navarro-Sastre et al.   MOLECULAR GENETICS AND METABOLISM

Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness

(2012) Saskia B Wortmann et al.   NATURE GENETICS

Thiamine Pyrophosphokinase Deficiency in Encephalopathic Children with Defects in the Pyruvate Oxidation Pathway

(2011) Johannes A. Mayr et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

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

Loss of mitochondrial complex I activity potentiates dopamine neuron death induced by microtubule dysfunction in a Parkinson’s disease model

(2011) Won-Seok Choi et al.   JOURNAL OF CELL BIOLOGY

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

Increased superoxide accumulation in pyruvate dehydrogenase complex deficient fibroblasts

(2011) Lyudmyla G. Glushakova et al.   MOLECULAR GENETICS AND METABOLISM

176th ENMC International Workshop: Diagnosis and treatment of coenzyme Q10 deficiency

(2011) Shamima Rahman et al.   NEUROMUSCULAR DISORDERS

Subacute necrotizing encephalomyelopathy (Leigh syndrome) associated with disturbed oxidation of pyruvate, malate and 2-oxoglutarate in muscle and liver

(2010) P.M.M. Erven et al.   ACTA NEUROLOGICA SCANDINAVICA

Severe X-Linked Mitochondrial Encephalomyopathy Associated with a Mutation in Apoptosis-Inducing Factor

(2010) Daniele Ghezzi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

New SUCLG1 patients expanding the phenotypic spectrum of this rare cause of mild methylmalonic aciduria

(2010) Vassili Valayannopoulos et al.   MITOCHONDRION

Combined treatment with oral metronidazole and N-acetylcysteine is effective in ethylmalonic encephalopathy

(2010) Carlo Viscomi et al.   NATURE MEDICINE

Phenotypic patterns of MELAS/LS overlap syndrome associated with m.13513G>A mutation, and neuropathological findings in one autopsy case

(2010) Zhaoxia Wang et al.   NEUROPATHOLOGY

Succinyl-CoA Ligase Deficiency: A Mitochondrial Hepatoencephalomyopathy

(2010) Johan L K Van Hove et al.   PEDIATRIC RESEARCH

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 complex I deficiency: from organelle dysfunction to clinical disease

(2009) F. Distelmaier et al.   BRAIN

Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy

(2009) Valeria Tiranti et al.   NATURE MEDICINE

A Mitochondrial Protein Compendium Elucidates Complex I Disease Biology

(2008) David J. Pagliarini et al.   CELL

Analysis of mutant DNA polymerase γ in patients with mitochondrial DNA depletion

(2008) Jan-Willem Taanman et al.   HUMAN MUTATION