Towards a therapy for mitochondrial disease: an update

Nutritional Interventions for Mitochondrial OXPHOS Deficiencies: Mechanisms and Model Systems

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

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

Natural history of mitochondrial disorders: a systematic review

(2018) Nandaki Keshavan et al.   Essays in Biochemistry

NAD+ repletion produces no therapeutic effect in mice with respiratory chain complex III deficiency and chronic energy deprivation

(2018) Janne Purhonen et al.   FASEB JOURNAL

Long-Term Sustained Effect of Liver-Targeted Adeno-Associated Virus Gene Therapy for Mitochondrial Neurogastrointestinal Encephalomyopathy

(2018) Javier Torres-Torronteras et al.   HUMAN GENE THERAPY

Retrospective natural history of thymidine kinase 2 deficiency

(2018) Caterina Garone et al.   JOURNAL OF MEDICAL GENETICS

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

The Neurotropic Properties of AAV-PHP.B Are Limited to C57BL/6J Mice

(2018) Juliette Hordeaux et al.   MOLECULAR THERAPY

Pharmacologic modeling of primary mitochondrial respiratory chain dysfunction in zebrafish

(2018) James Byrnes et al.   NEUROCHEMISTRY INTERNATIONAL

Randomized dose-escalation trial of elamipretide in adults with primary mitochondrial myopathy

(2018) Amel Karaa et al.   NEUROLOGY

MFN2 agonists reverse mitochondrial defects in preclinical models of Charcot-Marie-Tooth disease type 2A

(2018) Agostinho G. Rocha et al.   SCIENCE

Mitochondrial Genome Engineering: The Revolution May Not Be CRISPR-Ized

(2018) Payam A. Gammage et al.   TRENDS IN GENETICS

OPA1 gene therapy prevents retinal ganglion cell loss in a Dominant Optic Atrophy mouse model

(2018) Emmanuelle Sarzi et al.   Scientific Reports

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

(2018) Yi Yang et al.   Protein & Cell

Perturbed Redox Signaling Exacerbates a Mitochondrial Myopathy

(2018) Sukru Anil Dogan et al.   Cell Metabolism

Genome editing in mitochondria corrects a pathogenic mtDNA mutation in vivo

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

KH176 Safeguards Mitochondrial Diseased Cells from Redox Stress-Induced Cell Death by Interacting with the Thioredoxin System/Peroxiredoxin Enzyme Machinery

(2018) Julien Beyrath et al.   Scientific Reports

Mutation in the COX4I1 gene is associated with short stature, poor weight gain and increased chromosomal breaks, simulating Fanconi anemia

(2017) Bassam Abu-Libdeh et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

AAV9-based gene therapy partially ameliorates the clinical phenotype of a mouse model of Leigh syndrome

(2017) I Di Meo et al.   GENE THERAPY

Low-dose rapamycin extends lifespan in a mouse model of mtDNA depletion syndrome

(2017) Stephanie E Siegmund et al.   HUMAN MOLECULAR GENETICS

Mitochondrial Replacement Therapy: Unmade in the USA

(2017) Eli Y. Adashi et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

International Consensus Statement on the Clinical and Therapeutic Management of Leber Hereditary Optic Neuropathy

(2017) Valerio Carelli et al.   JOURNAL OF NEURO-OPHTHALMOLOGY

Assisted reproductive technologies to prevent human mitochondrial disease transmission

(2017) Andy Greenfield et al.   NATURE BIOTECHNOLOGY

Engineered AAVs for efficient noninvasive gene delivery to the central and peripheral nervous systems

(2017) Ken Y Chan et al.   NATURE NEUROSCIENCE

International Workshop:

(2017) Michelangelo Mancuso et al.   NEUROMUSCULAR DISORDERS

Post onset, oral rapamycin treatment delays development of mitochondrial encephalopathy only at supramaximal doses

(2017) Roberta Felici et al.   NEUROPHARMACOLOGY

Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy

(2017) Jerry R. Mendell et al.   NEW ENGLAND JOURNAL OF MEDICINE

Gene Therapy for Leber Hereditary Optic Neuropathy

(2017) John Guy et al.   OPHTHALMOLOGY

KH176 under development for rare mitochondrial disease: a first in man randomized controlled clinical trial in healthy male volunteers

(2017) Saskia Koene et al.   Orphanet Journal of Rare Diseases

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

First birth following spindle transfer for mitochondrial replacement therapy: hope and trepidation

(2017) Mina Alikani et al.   REPRODUCTIVE BIOMEDICINE ONLINE

Live birth derived from oocyte spindle transfer to prevent mitochondrial disease

(2017) John Zhang et al.   REPRODUCTIVE BIOMEDICINE ONLINE

Liver Transplantation for Mitochondrial Respiratory Chain Disorder: A Single-Center Experience and Excellent Marker of Differential Diagnosis

(2017) K. Sasaki et al.   TRANSPLANTATION PROCEEDINGS

Maintenance of redox homeostasis by hypoxia-inducible factors

(2017) Debangshu Samanta et al.   Redox Biology

An open-label, non-randomized study of the pharmacokinetics of the nutritional supplement nicotinamide riboside (NR) and its effects on blood NAD+ levels in healthy volunteers

(2017) Sophia E. Airhart et al.   PLoS One

Therapeutic effects of the mitochondrial ROS-redox modulator KH176 in a mammalian model of Leigh Disease

(2017) Ria de Haas et al.   Scientific Reports

Liver transplantation for mitochondrial neurogastrointestinal encephalomyopathy

(2016) Roberto De Giorgio et al.   ANNALS OF NEUROLOGY

Toward a therapy for mitochondrial disease

(2016) Carlo Viscomi   BIOCHEMICAL SOCIETY TRANSACTIONS

Liver transplant in ethylmalonic encephalopathy: a new treatment for an otherwise fatal disease

(2016) Carlo Dionisi-Vici et al.   BRAIN

Effects of ketosis in mitochondrial myopathy: potential benefits of a mitotoxic diet

(2016) Robert DS Pitceathly et al.   EMBO Molecular Medicine

Modified Atkins diet induces subacute selective ragged‐red‐fiber lysis in mitochondrial myopathy patients

(2016) Sofia Ahola et al.   EMBO Molecular Medicine

Nutritional interventions in primary mitochondrial disorders: Developing an evidence base

(2016) Kathryn M. Camp 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

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

Rapamycin enhances survival in a Drosophila model of mitochondrial disease

(2016) Adrienne Wang et al.   Oncotarget

Alleviation of neuronal energy deficiency by mTOR inhibition as a treatment for mitochondria-related neurodegeneration

(2016) Xinde Zheng et al.   eLife

Efficacy and Safety of rAAV2-ND4 Treatment for Leber’s Hereditary Optic Neuropathy

(2016) Xing Wan et al.   Scientific Reports

Emerging concepts in the therapy of mitochondrial disease

(2015) Carlo Viscomi et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

Selective Elimination of Mitochondrial Mutations in the Germline by Genome Editing

(2015) Pradeep Reddy et al.   CELL

The Opa1-Dependent Mitochondrial Cristae Remodeling Pathway Controls Atrophic, Apoptotic, and Ischemic Tissue Damage

(2015) Tatiana Varanita et al.   Cell Metabolism

Opa1 Overexpression Ameliorates the Phenotype of Two Mitochondrial Disease Mouse Models

(2015) Gabriele Civiletto et al.   Cell Metabolism

Mitochondrial diseases caused by toxic compound accumulation: from etiopathology to therapeutic approaches

(2015) I. Di Meo et al.   EMBO Molecular Medicine

Targeting estrogen receptor β as preventive therapeutic strategy for Leber's hereditary optic neuropathy

(2015) Annalinda Pisano et al.   HUMAN MOLECULAR GENETICS

Inhibiting cytosolic translation and autophagy improves health in mitochondrial disease

(2015) Min Peng et al.   HUMAN MOLECULAR GENETICS

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

(2014) Raffaele Cerutti et al.   Cell Metabolism

Serendipity and the Discovery of Novel Compounds That Restore Mitochondrial Plasticity

(2014) H H Szeto et al.   CLINICAL PHARMACOLOGY & THERAPEUTICS

Deoxypyrimidine monophosphate bypass therapy for thymidine kinase 2 deficiency

(2014) C. Garone et al.   EMBO Molecular Medicine

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

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

Molecular mechanisms underlying genotype-dependent responses to dietary restriction

(2013) Jennifer Schleit et al.   AGING CELL

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

(2013) Carla Giordano et al.   BRAIN

Mitochondrial Cristae Shape Determines Respiratory Chain Supercomplexes Assembly and Respiratory Efficiency

(2013) Sara Cogliati et al.   CELL

Administration of deoxyribonucleosides or inhibition of their catabolism as a pharmacological approach for mitochondrial DNA depletion syndrome

(2013) Yolanda Cámara et al.   HUMAN MOLECULAR GENETICS

Rapalogs and mTOR inhibitors as anti-aging therapeutics

(2013) Dudley W. Lamming et al.   JOURNAL OF CLINICAL INVESTIGATION

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

(2013) Sandra R Bacman et al.   NATURE MEDICINE

Effective AAV-mediated gene therapy in a mouse model of ethylmalonic encephalopathy

(2012) Ivano Di Meo et al.   EMBO Molecular Medicine

In vitro supplementation with deoxynucleoside monophosphates rescues mitochondrial DNA depletion

(2012) Stefanie Bulst et al.   MOLECULAR GENETICS AND METABOLISM

Mammalian ribonucleotide reductase subunit p53R2 is required for mitochondrial DNA replication and DNA repair in quiescent cells

(2012) G. Pontarin et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

In Vivo Correction of COX Deficiency by Activation of the AMPK/PGC-1α Axis

(2011) Carlo Viscomi et al.   Cell Metabolism

Assessment of neurological efficacy of idebenone in pediatric patients with Friedreich's ataxia: data from a 6-month controlled study followed by a 12-month open-label extension study

(2011) Thomas Meier et al.   JOURNAL OF NEUROLOGY

Ketogenic diet slows down mitochondrial myopathy progression in mice

(2010) Sofia Ahola-Erkkilä et al.   HUMAN MOLECULAR GENETICS

Fishing in the (deoxyribonucleotide) pool: Figure 1

(2009) Ann Saada   BIOCHEMICAL JOURNAL

Mice with Mitochondrial Complex I Deficiency Develop a Fatal Encephalomyopathy

(2008) Shane E. Kruse et al.   Cell Metabolism

Inherited mitochondrial optic neuropathies

(2008) P Yu-Wai-Man et al.   JOURNAL OF MEDICAL GENETICS