Clinical syndromes associated with mtDNA mutations: where we stand after 30 years

The accumulation of assembly intermediates of the mitochondrial complex I matrix arm is reduced by limiting glucose uptake in a neuronal-like model of MELAS syndrome

(2018) Guillaume Geffroy et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Emerging therapies for mitochondrial diseases

(2018) Michio Hirano et al.   Essays in Biochemistry

Conventional and Diffusional Magnetic Resonance Imaging Features of Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes in Chinese Patients

(2018) Weixingzi Xu et al.   JOURNAL OF COMPUTER ASSISTED TOMOGRAPHY

Taurine supplementation for prevention of stroke-like episodes in MELAS: a multicentre, open-label, 52-week phase III trial

(2018) Yutaka Ohsawa et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

An in vivo model of functional and vascularized human brain organoids

(2018) Abed AlFatah Mansour et al.   NATURE BIOTECHNOLOGY

Peculiar combinations of individually non-pathogenic missense mitochondrial DNA variants cause low penetrance Leber’s hereditary optic neuropathy

(2018) Leonardo Caporali et al.   PLoS Genetics

Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome

(2017) Caterina Garone et al.   HUMAN MOLECULAR GENETICS

Familial Pernicious Chronic Intestinal Pseudo-obstruction with a Mitochondrial DNA A3243G Mutation

(2017) Junichiro Suzuki et al.   INTERNAL MEDICINE

MtDNA-maintenance defects: syndromes and genes

(2017) Carlo Viscomi et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Incomplete penetrance in mitochondrial optic neuropathies

(2017) Leonardo Caporali et al.   MITOCHONDRION

Identification of FASTKD2 compound heterozygous mutations as the underlying cause of autosomal recessive MELAS-like syndrome

(2017) Da Hye Yoo et al.   MITOCHONDRION

Homeostatic Responses Regulate Selfish Mitochondrial Genome Dynamics in C. elegans

(2016) Bryan L. Gitschlag et al.   Cell Metabolism

Expanded phenotypic spectrum of the m.8344A>G “MERRF” mutation: data from the German mitoNET registry

(2016) Judith Altmann et al.   JOURNAL OF NEUROLOGY

Maintenance and propagation of a deleterious mitochondrial genome by the mitochondrial unfolded protein response

(2016) Yi-Fan Lin et al.   NATURE

A decade of transcription factor-mediated reprogramming to pluripotency

(2016) Kazutoshi Takahashi et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Selective removal of deletion-bearing mitochondrial DNA in heteroplasmic Drosophila

(2016) Nikolay P. Kandul et al.   Nature Communications

Recommendations for the Management of Strokelike Episodes in Patients With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Strokelike Episodes

(2016) Mary Kay Koenig et al.   JAMA Neurology

Parsing the differences in affected with LHON: genetic versus environmental triggers of disease conversion

(2015) Valerio Carelli et al.   BRAIN

Mitochondrial DNA copy number differentiates the Leber’s hereditary optic neuropathy affected individuals from the unaffected mutation carriers

(2015) Angelica Bianco et al.   BRAIN

Macular nerve fibre and ganglion cell layer changes in acute Leber's hereditary optic neuropathy

(2015) Nicole Balducci et al.   BRITISH JOURNAL OF OPHTHALMOLOGY

Mitochondrial DNA Variation in Human Radiation and Disease

(2015) Douglas C. Wallace   CELL

Selective Elimination of Mitochondrial Mutations in the Germline by Genome Editing

(2015) Pradeep Reddy et al.   CELL

Short peptides from leucyl-tRNA synthetase rescue disease-causing mitochondrial tRNA point mutations

(2015) Elena Perli et al.   HUMAN MOLECULAR GENETICS

The exome sequencing identified the mutation in YARS2 encoding the mitochondrial tyrosyl-tRNA synthetase as a nuclear modifier for the phenotypic manifestation of Leber's hereditary optic neuropathy-associated mitochondrial DNA mutation

(2015) Pingping Jiang et al.   HUMAN MOLECULAR GENETICS

Mitochondria: Biogenesis and mitophagy balance in segregation and clonal expansion of mitochondrial DNA mutations

(2015) Valerio Carelli et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

Redefining phenotypes associated with mitochondrial DNA single deletion

(2015) Michelangelo Mancuso et al.   JOURNAL OF NEUROLOGY

MELAS syndrome: Clinical manifestations, pathogenesis, and treatment options

(2015) Ayman W. El-Hattab et al.   MOLECULAR GENETICS AND METABOLISM

MitoTALEN: A General Approach to Reduce Mutant mtDNA Loads and Restore Oxidative Phosphorylation Function in Mitochondrial Diseases

(2015) Masami Hashimoto et al.   MOLECULAR THERAPY

Metabolic rescue in pluripotent cells from patients with mtDNA disease

(2015) Hong Ma et al.   NATURE

Cigarette toxicity triggers Leber’s hereditary optic neuropathy by affecting mtDNA copy number, oxidative phosphorylation and ROS detoxification pathways

(2015) L Giordano et al.   Cell Death & Disease

When man got his mtDNA deletions?

(2014) Konstantin Popadin et al.   AGING CELL

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

(2014) Raffaele Cerutti et al.   Cell Metabolism

Effective treatment of mitochondrial myopathy by nicotinamide riboside, a vitamin B3

(2014) Nahid A Khan et al.   EMBO Molecular Medicine

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

Dissecting the mechanisms underlying the accumulation of mitochondrial DNA deletions in human skeletal muscle

(2014) G. Campbell et al.   HUMAN MOLECULAR GENETICS

Mitochondria: Role of citrulline and arginine supplementation in MELAS syndrome

(2014) Ayman W. El-Hattab et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

Phenotypic Analysis of Epilepsy in the Mitochondrial Encephalomyopathy, Lactic Acidosis, and Strokelike Episodes–Associated Mitochondrial DNA A3243G Mutation

(2014) Scott T. Demarest et al.   JOURNAL OF CHILD NEUROLOGY

Mitochondrial DNA: Impacting Central and Peripheral Nervous Systems

(2014) Valerio Carelli et al.   NEURON

Progressive increase in mtDNA 3243A>G heteroplasmy causes abrupt transcriptional reprogramming

(2014) M. Picard et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Macular dystrophy associated with the mitochondrial DNA A3243G mutation: pericentral pigment deposits or atrophy? Report of two cases and review of the literature

(2014) Alejandra Daruich et al.   BMC Ophthalmology

Targeted enrichment and high-resolution digital profiling of mitochondrial DNA deletions in human brain

(2013) Sean D. Taylor et al.   AGING CELL

Efficient mitochondrial biogenesis drives incomplete penetrance in Leber’s hereditary optic neuropathy

(2013) Carla Giordano et al.   BRAIN

Disease progression in patients with single, large-scale mitochondrial DNA deletions

(2013) J. P. Grady et al.   BRAIN

Identification of the variants in PARL, the nuclear modifier gene, responsible for the expression of LHON patients in Thailand

(2013) Rochmy Istikharah et al.   EXPERIMENTAL EYE RESEARCH

Rapamycin drives selection against a pathogenic heteroplasmic mitochondrial DNA mutation

(2013) Ying Dai et al.   HUMAN MOLECULAR GENETICS

Mitochondrial DNA deletions in muscle satellite cells: implications for therapies

(2013) Sally Spendiff et al.   HUMAN MOLECULAR GENETICS

The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender?

(2013) Michelangelo Mancuso et al.   JOURNAL OF NEUROLOGY

The UK MRC Mitochondrial Disease Patient Cohort Study: clinical phenotypes associated with the m.3243A>G mutation--implications for diagnosis and management

(2013) V. Nesbitt et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

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

(2013) Sandra R Bacman et al.   NATURE MEDICINE

The clinical maze of mitochondrial neurology

(2013) Salvatore DiMauro et al.   Nature Reviews Neurology

Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutation

(2013) M. Mancuso et al.   NEUROLOGY

Tissue- and cell-type-specific manifestations of heteroplasmic mtDNA 3243A>G mutation in human induced pluripotent stem cell-derived disease model

(2013) R. H. Hamalainen et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mitochondrial DNA with a Large-Scale Deletion Causes Two Distinct Mitochondrial Disease Phenotypes in Mice

(2013) Shun Katada et al.   G3-Genes Genomes Genetics

Late-onset Leigh syndrome with myoclonic epilepsy with ragged-red fibers

(2012) Yukifumi Monden et al.   BRAIN & DEVELOPMENT

Renal involvement in MELAS syndrome – a series of 5 cases and review of the literature

(2012) Alexandre Seidowsky et al.   CLINICAL NEPHROLOGY

Mitochondrial antibiograms in personalized medicine

(2012) D. Pacheu-Grau et al.   HUMAN MOLECULAR GENETICS

The Psychiatric Manifestations of Mitochondrial Disorders

(2012) Rebecca E. Anglin et al.   JOURNAL OF CLINICAL PSYCHIATRY

Single deletions in mitochondrial DNA – Molecular mechanisms and disease phenotypes in clinical practice

(2012) R.D.S. Pitceathly et al.   NEUROMUSCULAR DISORDERS

Recovery of MERRF Fibroblasts and Cybrids Pathophysiology by Coenzyme Q10

(2012) Mario De la Mata et al.   Neurotherapeutics

Rare Primary Mitochondrial DNA Mutations and Probable Synergistic Variants in Leber’s Hereditary Optic Neuropathy

(2012) Alessandro Achilli et al.   PLoS One

Mouse mtDNA mutant model of Leber hereditary optic neuropathy

(2012) C. S. Lin et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Molecular pathology of MELAS and l-arginine effects

(2011) Yasutoshi Koga et al.   BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS

Idebenone Treatment In Leber's Hereditary Optic Neuropathy

(2011) V. Carelli et al.   BRAIN

A randomized placebo-controlled trial of idebenone in Leber’s hereditary optic neuropathy

(2011) Thomas Klopstock et al.   BRAIN

Oestrogens ameliorate mitochondrial dysfunction in Leber’s hereditary optic neuropathy

(2010) Carla Giordano et al.   BRAIN

Neuroimaging of stroke-like episodes in MELAS

(2010) Hiromichi Ito et al.   BRAIN & DEVELOPMENT

Mitochondrial Fusion Is Required for mtDNA Stability in Skeletal Muscle and Tolerance of mtDNA Mutations

(2010) Hsiuchen Chen et al.   CELL

No association between the SNPs (rs3749446 and rs1402000) in the PARL gene and LHON in Chinese patients with m.11778G>A

(2010) A-Mei Zhang et al.   HUMAN GENETICS

Genome-wide linkage scan and association study of PARL to the expression of LHON families in Thailand

(2010) Nopasak Phasukkijwatana et al.   HUMAN GENETICS

Natural History of Leber's Hereditary Optic Neuropathy: Longitudinal Analysis of the Retinal Nerve Fiber Layer by Optical Coherence Tomography

(2010) Piero Barboni et al.   OPHTHALMOLOGY

Parkin overexpression selects against a deleterious mtDNA mutation in heteroplasmic cybrid cells

(2010) D.-F. Suen et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mitochondrial optic neuropathies – Disease mechanisms and therapeutic strategies

(2010) Patrick Yu-Wai-Man et al.   PROGRESS IN RETINAL AND EYE RESEARCH

Protean Phenotypic Features of the A3243G Mitochondrial DNA Mutation

(2009) Petra Kaufmann et al.   ARCHIVES OF NEUROLOGY

Human NARP Mitochondrial Mutation Metabolism Corrected With α-Ketoglutarate/Aspartate

(2009) Gianluca Sgarbi et al.   ARCHIVES OF NEUROLOGY

Novel A14841G mutation is associated with high penetrance of LHON/C4171A family

(2009) Juhua Yang et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Gene–environment interactions in Leber hereditary optic neuropathy

(2009) Matthew Anthony Kirkman et al.   BRAIN

Mitochondrial pharmacogenomics: barcode for antibiotic therapy

(2009) David Pacheu-Grau et al.   DRUG DISCOVERY TODAY

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

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

The novel G10680A mutation is associated with complete penetrance of the LHON/T14484C family

(2009) Juhua Yang et al.   MITOCHONDRION

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

MELAS ASSOCIATED WITH MUTATIONS IN THE POLG1 GENE

(2008) C. Tzoulis et al.   NEUROLOGY

Evidence for a Novel X-Linked Modifier Locus for Leber Hereditary Optic Neuropathy

(2008) Suma P. Shankar et al.   OPHTHALMIC GENETICS