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Premature ageing in mice expressing defective mitochondrial DNA polymerase

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A mouse model for mitochondrial myopathy and cardiomyopathy resulting from a deficiency in the heart/muscle isoform of the adenine nucleotide translocator

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Crystal Structure of T7 Gene 4 Ring Helicase Indicates a Mechanism for Sequential Hydrolysis of Nucleotides

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POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion

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A novel variation in the Twinkle linker region causing late-onset dementia

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Assessing Autophagy in Archived Tissue or How to Capture Autophagic Flux from a Tissue Snapshot

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The multifaceted roles of DNA repair and replication proteins in aging and obesity

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MtDNA deletions and aging

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Structural basis for adPEO-causing mutations in the mitochondrial TWINKLE helicase

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Disruption of Supv3L1 damages the skin and causes sarcopenia, loss of fat, and death

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Structural and Molecular Basis for Mitochondrial DNA Replication and Transcription in Health and Antiviral Drug Toxicity

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Clinical and molecular aspects of diseases of mitochondrial DNA instability.

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A multi-systemic mitochondrial disorder due to a dominant p.Y955H disease variant in DNA polymerase gamma

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De novo serine biosynthesis is protective in mitochondrial disease

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Single-molecule level structural dynamics of DNA unwinding by human mitochondrial Twinkle helicase

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Lactate metabolism is essential in early-onset mitochondrial myopathy

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Interactions of mitochondrial and skeletal muscle biology in mitochondrial myopathy

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An atypical case of neuronal ceroid lipofuscinosis with co-inheritance of a variably penetrant POLG1mutation

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Roles of the mitochondrial replisome in mitochondrial DNA deletion formation

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Retromer promotes the lysosomal turnover of mtDNA

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

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Neuropathology of Partial PGC-1α Deficiency Recapitulates Features of Mitochondrial Encephalopathies but Not of Neurodegenerative Diseases

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Screen for abnormal mitochondrial phenotypes in mouse ES cells identifies model for Succinyl-CoA Ligase deficiency and mtDNA depletion

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Generation of somatic mitochondrial DNA-replaced cells for mitochondrial dysfunction treatment

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Mild ocular myopathy associated with a novel mutation in mitochondrial twinkle helicase

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Redox Signaling and Stress in Inherited Myopathies

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Primase promotes the competition between transcription and replication on the same template strand resulting in DNA damage

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Oxidative Phosphorylation Dysfunction Modifies the Cell Secretome

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Modelling biochemical features of mitochondrial neuropathology

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Phenotype and clinical course in a family with a new de novo Twinkle gene mutation

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Mouse models of mtDNA replication diseases

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Post-Translational Decrease in Respiratory Chain Proteins in the Polg Mutator Mouse Brain

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Mitochondria and mtDNA integrity in stem cell function and differentiation

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Point Mutations Are Causing Progeroid Phenotypes in the mtDNA Mutator Mouse

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The Mitochondrial Genome in Aging and Disease and the Future of Mitochondrial Therapeutics

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Modelling age-related metabolic disorders in the mouse

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The NAD + Precursor Nicotinamide Riboside Rescues Mitochondrial Defects and Neuronal Loss in iPSC derived Cortical Organoid of Alpers' Disease

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Aging through the lens of mitochondrial DNA mutations and inheritance paradoxes

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Mitochondrial Disorders of DNA Polymerase γ Dysfunction: From Anatomic to Molecular Pathology Diagnosis

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Energizing Genetics and Epi-genetics: Role in the Regulation of Mitochondrial Function

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Analysis of Human Mitochondrial DNA Content by Southern Blotting and Nonradioactive Probe Hybridization

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Clinical phenotype of autosomal dominant progressive external ophthalmoplegia in a family with a novel mutation in the C10orf2 gene

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Mitochondrial Diseases Part III: Therapeutic interventions in mouse models of OXPHOS deficiencies

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Mitochondrial helicases and mitochondrial genome maintenance

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Attempts to understand the mechanisms of mitochondrial diseases: the reverse genetics of mouse models for mitochondrial disease

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Mitochondrial DNA maintenance in Drosophila melanogaster

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Unraveling ptosis: A comprehensive review of clinical manifestations, genetics, and treatment

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Modelling POLG mutations in mice unravels a critical role of POLγΒ in regulating phenotypic severity

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Biomarker Validation for Aging: Lessons from mtDNA Heteroplasmy Analyses in Early Cancer Detection

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Petite Integration Factor 1 (PIF1) helicase deficiency increases weight gain in Western diet-fed female mice without increased inflammatory markers or decreased glucose clearance

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Discovery of novel disease-causing mutation in SSBP1 and its correction using adenine base editor to improve mitochondrial function

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Manipulating mtDNA in vivo reprograms metabolism via novel response mechanisms

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Muscle regeneration in mitochondrial myopathies

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Evolving insight into the role of mitochondrial DNA mutations in aging

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Mitochondrial DNA mutations and aging

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Molecular analysis in a family presenting with a mild form of late-onset autosomal dominant chronic progressive external ophthalmoplegia

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Mitochondrial Transplantation as a Therapeutic Strategy for Inherited Mitochondrial Diseases

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CHCHD10 mutations induce tissue-specific mitochondrial DNA deletions with a distinct signature

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Our current understanding of the biological impact of endometrial cancer mtDNA genome mutations and their potential use as a biomarker

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Mitochondria in Health and Disease – 3rd Annual Conference of Society for Mitochondrial Research and Medicine – 19–20 December 2013 — Bengaluru, India

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Are mutagenic non D-loop direct repeat motifs in mitochondrial DNA under a negative selection pressure?

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Heterologous expression from the human D-Loop in organello

Jackson, C. B., Zbinden, C., Gallati, S., & Schaller, A. (2014) · Mitochondrion · doi:10.1016/j.mito.2014.05.011 · Cited by 7

Mitochondrial Medicine

Wallace, D. C., Lott, M. T., & Procaccio, V. (2013) · Elsevier eBooks · doi:10.1016/b978-0-12-383834-6.00013-6 · Cited by 8

Autoregulation of the real-time kinetics of the human mitochondrial replicative helicase

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Mitochondrial quality control in health and disease: mechanisms and therapeutic targets

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Advances Towards Therapeutic Approaches for mtDNA Disease

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Risk of cardiac manifestations in adult mitochondrial disease caused by nuclear genetic defects

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Alternative oxidase causes cell type- and tissue-specific responses in mutator mice

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TWNK gene pathogenic variant and Perrault syndrome

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Autophagy in striated muscle diseases

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Compound mutations of PEO1 and TYMP in a progressive external ophthalmoplegia patient with incomplete mitochondrial neurogastrointestinal encephalomyopathy phenotype

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Are somatic mitochondrial DNA mutations relevant to our health? A challenge for mutation analysis techniques

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Identification of genetic mechanisms of non-isolated auditory neuropathy with various phenotypes in Chinese families

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PDK4 and nutrient responses explain muscle specific manifestation in mitochondrial disease

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Mitochondrial Respiratory Dysfunction Is Not Correlated With Mitochondrial Genotype in Premature Aging Mice

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Targeted Mitochondrial Genome Elimination

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A stagewise response to mitochondrial dysfunction in mitochondrial DNA maintenance disorders

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Mitochondrial Respiratory Disorders: A Perspective on their Metabolite Biomarkers and Implications for Clinical Diagnosis and Therapeutic Intervention.

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Mitochondrial Signaling

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Mitochondrial protein import stress augments α-synuclein aggregation and neurodegeneration independent of bioenergeticsPreprint

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Mitochondrial DNA Replication and Disease: A Historical Perspective on Molecular Insights and Therapeutic Advances

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Developing new treatments in partnership for primary mitochondrial disease: What does industry need from academics, and what do academics need from industry?

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Comparative Skeletal Muscle Aging

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The pivotal role of mitochondria in the pathogenesis and treatment of liver failure: a comprehensive review

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Pathologies de l’ADN mitochondrial et stratégies thérapeutiques

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Single-molecule fluorescence reveals the DNA unwinding mechanism of mitochondrial helicase TWINKLE and its interplay with single-stranded DNA-binding proteins

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Using Atomic Force Microscopy to Study the Real Time Dynamics of DNA Unwinding by Mitochondrial Twinkle Helicase

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Modeling Mitochondrial Dysfunction in Neurodegenerative Disease

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