OxPhos defects cause hypermetabolism and reduce lifespan in cells and in patients with mitochondrial diseases

Congenital Hypermetabolism and Uncoupled Oxidative Phosphorylation

(2022) Rebecca D. Ganetzky et al.   NEW ENGLAND JOURNAL OF MEDICINE

The energetic cost of allostasis and allostatic load

(2022) Natalia Bobba-Alves et al.   PSYCHONEUROENDOCRINOLOGY

A multi-omics longitudinal aging dataset in primary human fibroblasts with mitochondrial perturbations

(2022) Gabriel Sturm et al.   Scientific Data

Circulating markers of NADH-reductive stress correlate with mitochondrial disease severity

(2021) Rohit Sharma et al.   JOURNAL OF CLINICAL INVESTIGATION

Smoking and alcohol, health-related quality of life and psychiatric comorbidities in Leber’s Hereditary Optic Neuropathy mutation carriers: a prospective cohort study

(2021) Andrea Rabenstein et al.   Orphanet Journal of Rare Diseases

Defective metabolic programming impairs early neuronal morphogenesis in neural cultures and an organoid model of Leigh syndrome

(2021) Gizem Inak et al.   Nature Communications

Improved detection of mitochondrial DNA instability in mitochondrial genome maintenance disorders

(2021) Celine Bris et al.   GENETICS IN MEDICINE

PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families

(2021) Anne Guimier et al.   GENETICS IN MEDICINE

From OCR and ECAR to energy: perspectives on the design and interpretation of bioenergetics studies

(2021) Cameron A. Schmidt et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Physical bioenergetics: Energy fluxes, budgets, and constraints in cells

(2021) Xingbo Yang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Daily energy expenditure through the human life course

(2021) Herman Pontzer et al.   SCIENCE

Characterization of mitochondrial DNA quantity and quality in the human aged and Alzheimer’s disease brain

(2021) Hans-Ulrich Klein et al.   Molecular Neurodegeneration

Mitochondrial stress is relayed to the cytosol by an OMA1–DELE1–HRI pathway

(2020) Xiaoyan Guo et al.   NATURE

Genome-scale reconstructions of the mammalian secretory pathway predict metabolic costs and limitations of protein secretion

(2020) Jahir M. Gutierrez et al.   Nature Communications

A proteomic atlas of senescence-associated secretomes for aging biomarker development

(2020) Nathan Basisty et al.   PLOS BIOLOGY

Distinct mitochondrial defects trigger the integrated stress response depending on the metabolic state of the cell

(2020) Eran Mick et al.   eLife

An automated, high throughput methodology optimized for quantitative cell-free mitochondrial and nuclear DNA isolation from plasma

(2020) Sarah A Ware et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Expanding and validating the biomarkers for mitochondrial diseases

(2020) Alessandra Maresca et al.   JOURNAL OF MOLECULAR MEDICINE-JMM

Single Nucleotide Resolution Analysis Reveals Pervasive, Long-Lasting DNA Methylation Changes by Developmental Exposure to a Mitochondrial Toxicant

(2020) Oswaldo A. Lozoya et al.   Cell Reports

Energetic Trade-Offs and Hypometabolic States Promote Disease Tolerance

(2019) Kirthana Ganeshan et al.   CELL

Obesity-Associated Hypermetabolism and Accelerated Senescence of Bone Marrow Stromal Stem Cells Suggest a Potential Mechanism for Bone Fragility

(2019) Michaela Tencerova et al.   Cell Reports

Human aging DNA methylation signatures are conserved but accelerated in cultured fibroblasts

(2019) Gabriel Sturm et al.   Epigenetics

Understanding mitochondrial DNA maintenance disorders at the single muscle fibre level

(2019) Diana Lehmann et al.   NUCLEIC ACIDS RESEARCH

Appendicular skeletal muscle mass: A more sensitive biomarker of disease severity than BMI in adults with mitochondrial diseases

(2019) Yue Hou et al.   PLoS One

Energetic costs of cellular and therapeutic control of stochastic mitochondrial DNA populations

(2019) Hanne Hoitzing et al.   PLoS Computational Biology

Fibroblast Growth Factor 21 Drives Dynamics of Local and Systemic Stress Responses in Mitochondrial Myopathy with mtDNA Deletions

(2019) Saara Forsström et al.   Cell Metabolism

Chemoptogenetic damage to mitochondria causes rapid telomere dysfunction

(2019) Wei Qian et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

ShinyGO: a graphical gene-set enrichment tool for animals and plants

(2019) Steven Xijin Ge et al.   BIOINFORMATICS

Undulating changes in human plasma proteome profiles across the lifespan

(2019) Benoit Lehallier et al.   NATURE MEDICINE

Plasma proteomic signature of age in healthy humans

(2018) Toshiko Tanaka et al.   AGING CELL

Sub-cellular origin of mtDNA deletions in human skeletal muscle

(2018) Amy E Vincent et al.   ANNALS OF NEUROLOGY

SURF1 knockout cloned pigs: Early onset of a severe lethal phenotype

(2018) C. Quadalti et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

CLPP deficiency protects against metabolic syndrome but hinders adaptive thermogenesis

(2018) Christina Becker et al.   EMBO REPORTS

Natural history of mitochondrial disorders: a systematic review

(2018) Nandaki Keshavan et al.   Essays in Biochemistry

DNA methylation-based biomarkers and the epigenetic clock theory of ageing

(2018) Steve Horvath et al.   NATURE REVIEWS GENETICS

Mitochondrial nicotinamide adenine dinucleotide reduced (NADH) oxidation links the tricarboxylic acid (TCA) cycle with methionine metabolism and nuclear DNA methylation

(2018) Oswaldo A. Lozoya et al.   PLOS BIOLOGY

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

Mitochondrial DNA Variation Dictates Expressivity and Progression of Nuclear DNA Mutations Causing Cardiomyopathy

(2018) Meagan J. McManus et al.   Cell Metabolism

Multilevel heterogeneity of mitochondrial respiratory chain deficiency

(2018) Amy E Vincent et al.   JOURNAL OF PATHOLOGY

eKLIPse: a sensitive tool for the detection and quantification of mitochondrial DNA deletions from next-generation sequencing data

(2018) David Goudenège et al.   GENETICS IN MEDICINE

Energy Constraint as a Novel Mechanism Linking Exercise and Health

(2018) Herman Pontzer   PHYSIOLOGY

Quantifying intracellular rates of glycolytic and oxidative ATP production and consumption using extracellular flux measurements

(2017) Shona A. Mookerjee et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Multi-omics analysis identifies ATF4 as a key regulator of the mitochondrial stress response in mammals

(2017) Pedro M. Quirós et al.   JOURNAL OF CELL BIOLOGY

Mitochondrial diseases: the contribution of organelle stress responses to pathology

(2017) Anu Suomalainen et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Cause of Death in Children With Mitochondrial Diseases

(2017) Soyong Eom et al.   PEDIATRIC NEUROLOGY

Metabolic profiles of exercise in patients with McArdle disease or mitochondrial myopathy

(2017) Nigel F. Delaney et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mitochondrial energy deficiency leads to hyperproliferation of skeletal muscle mitochondria and enhanced insulin sensitivity

(2017) Ryan M. Morrow et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Transcriptomic and proteomic landscape of mitochondrial dysfunction reveals secondary coenzyme Q deficiency in mammals

(2017) Inge Kühl et al.   eLife

Mitochondrial Dysfunction Induces Senescence with a Distinct Secretory Phenotype

(2016) Christopher D. Wiley et al.   Cell Metabolism

Combinatorial effects of continuous protein synthesis, ERK-signaling, and reactive oxygen species on induction of cellular senescence

(2016) Yuki Takauji et al.   EXPERIMENTAL CELL RESEARCH

Home-based aerobic exercise training improves skeletal muscle oxidative metabolism in patients with metabolic myopathies

(2016) Simone Porcelli et al.   JOURNAL OF APPLIED PHYSIOLOGY

Growth differentiation factor 15 is a myomitokine governing systemic energy homeostasis

(2016) Hyo Kyun Chung et al.   JOURNAL OF CELL BIOLOGY

Mitochondrial and nuclear DNA matching shapes metabolism and healthy ageing

(2016) Ana Latorre-Pellicer et al.   NATURE

Near-optimal probabilistic RNA-seq quantification

(2016) Nicolas L Bray et al.   NATURE BIOTECHNOLOGY

FGF21 is a biomarker for mitochondrial translation and mtDNA maintenance disorders

(2016) Jenni M. Lehtonen et al.   NEUROLOGY

Hypoxia as a therapy for mitochondrial disease

(2016) I. H. Jain et al.   SCIENCE

Digital PCR methods improve detection sensitivity and measurement precision of low abundance mtDNA deletions

(2016) Frances R. Belmonte et al.   Scientific Reports

The Cost of Protein Production

(2016) Moshe Kafri et al.   Cell Reports

Mitochondrial diseases

(2016) Gráinne S. Gorman et al.   Nature Reviews Disease Primers

Restriction of protein synthesis abolishes senescence features at cellular and organismal levels

(2016) Yuki Takauji et al.   Scientific Reports

Accuracy of a simplified equation for energy expenditure based on bedside volumetric carbon dioxide elimination measurement – A two-center study

(2015) Nilesh M. Mehta et al.   CLINICAL NUTRITION

Polymerase gamma mutator mice rely on increased glycolytic flux for energy production

(2015) Ayesha Saleem et al.   MITOCHONDRION

Overflow metabolism in Escherichia coli results from efficient proteome allocation

(2015) Markus Basan et al.   NATURE

The free-energy cost of accurate biochemical oscillations

(2015) Yuansheng Cao et al.   Nature Physics

Perceived fatigue is highly prevalent and debilitating in patients with mitochondrial disease

(2015) Gráinne S. Gorman et al.   NEUROMUSCULAR DISORDERS

Mitochondrial functions modulate neuroendocrine, metabolic, inflammatory, and transcriptional responses to acute psychological stress

(2015) Martin Picard et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Circulating mitochondrial DNA increases with age and is a familiar trait: Implications for “inflamm-aging”

(2014) Marcello Pinti et al.   EUROPEAN JOURNAL OF IMMUNOLOGY

“IDEAL” Aging Is Associated with Lower Resting Metabolic Rate: The Baltimore Longitudinal Study of Aging

(2014) Jennifer A. Schrack et al.   JOURNAL OF THE AMERICAN GERIATRICS SOCIETY

Extensive pathogenicity of mitochondrial heteroplasmy in healthy human individuals

(2014) K. Ye et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

The co-occurrence of mtDNA mutations on different oxidative phosphorylation subunits, not detected by haplogroup analysis, affects human longevity and is population specific

(2013) Nicola Raule et al.   AGING CELL

Mitochondrial DNA deletions in muscle satellite cells: implications for therapies

(2013) Sally Spendiff et al.   HUMAN MOLECULAR GENETICS

Defining cardiac adaptations and safety of endurance training in patients with m.3243A>G-related mitochondrial disease

(2013) Matthew G.D. Bates et al.   INTERNATIONAL JOURNAL OF CARDIOLOGY

Discrete gait characteristics are associated with m.3243A>G and m.8344A>G variants of mitochondrial disease and its pathological consequences

(2013) Brook Galna et al.   JOURNAL OF NEUROLOGY

Lactate metabolism during exercise in patients with mitochondrial myopathy

(2013) Tina D. Jeppesen et al.   NEUROMUSCULAR DISORDERS

SURF1 deficiency: a multi-centre natural history study

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

Severity of cardiomyopathy associated with adenine nucleotide translocator-1 deficiency correlates with mtDNA haplogroup

(2013) Kevin A. Strauss et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mitochondrial Dysfunction and Lipid Accumulation in the Human Diaphragm during Mechanical Ventilation

(2012) Martin Picard et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

The energy–speed–accuracy trade-off in sensory adaptation

(2012) Ganhui Lan et al.   Nature Physics

Exertional dyspnea in mitochondrial myopathy: clinical features and physiological mechanisms

(2011) Katja Heinicke et al.   AMERICAN JOURNAL OF PHYSIOLOGY-REGULATORY INTEGRATIVE AND COMPARATIVE PHYSIOLOGY

Assessing mitochondrial dysfunction in cells

(2011) Martin D. Brand et al.   BIOCHEMICAL JOURNAL

Higher Energy Expenditure in Humans Predicts Natural Mortality

(2011) Reiner Jumpertz et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

High Basal Metabolic Rate Is a Risk Factor for Mortality: The Baltimore Longitudinal Study of Aging

(2011) C. Ruggiero et al.   JOURNALS OF GERONTOLOGY SERIES A-BIOLOGICAL SCIENCES AND MEDICAL SCIENCES

Natural history of MELAS associated with mitochondrial DNA m.3243A>G genotype

(2011) P. Kaufmann et al.   NEUROLOGY

Habitual Physical Activity in Mitochondrial Disease

(2011) Shehnaz Apabhai et al.   PLoS One

Modes of Metabolic Compensation during Mitochondrial Disease Using the Drosophila Model of ATP6 Dysfunction

(2011) Alicia M. Celotto et al.   PLoS One

The heart rate method for estimating metabolic rate: Review and recommendations

(2010) Jonathan A. Green   COMPARATIVE BIOCHEMISTRY AND PHYSIOLOGY A-MOLECULAR & INTEGRATIVE PHYSIOLOGY

OPA1 mutations cause cytochrome c oxidase deficiency due to loss of wild-type mtDNA molecules

(2010) Patrick Yu-Wai-Man et al.   HUMAN MOLECULAR GENETICS

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

Fat Metabolism During Exercise in Patients With Mitochondrial Disease

(2009) Tina Dysgaard Jeppesen et al.   ARCHIVES OF NEUROLOGY

Protean Phenotypic Features of the A3243G Mitochondrial DNA Mutation

(2009) Petra Kaufmann et al.   ARCHIVES OF NEUROLOGY

Gene–environment interactions in Leber hereditary optic neuropathy

(2009) Matthew Anthony Kirkman et al.   BRAIN

Analyses and comparisons of telomerase activity and telomere length in human T and B cells: Insights for epidemiology of telomere maintenance

(2009) Jue Lin et al.   JOURNAL OF IMMUNOLOGICAL METHODS

Metabolic Myopathies

(2009) BRUNO GRASSI et al.   MEDICINE AND SCIENCE IN SPORTS AND EXERCISE

Revealing Global Regulatory Perturbations across Human Cancers

(2009) Hani Goodarzi et al.   MOLECULAR CELL

Shifts in growth strategies reflect tradeoffs in cellular economics

(2009) Douwe Molenaar et al.   Molecular Systems Biology

Mean mass-specific metabolic rates are strikingly similar across life's major domains: Evidence for life's metabolic optimum

(2008) A. M. Makarieva et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA