Document Library

“Characterization of a novel MT-TL1 pathogenic variant causing late-onset chronic progressive external opthalmoplegia-plus”September 7, 2023
“Dysmorphology in Mitochondrial Disease”September 7, 2023
“A reference guide for functional mitochondrial analyses, a new tool in the mitochondrial disease diagnosis repertoire”September 7, 2023
“Interrogating cell death mechanisms and identifying therapeutic leads in zebrafish surf1-/- models of Leigh syndrome”September 7, 2023
“Pre-clinical study on novel treatment strategies for RRM2B disease”September 7, 2023
“Generation of innovative gene-independent therapeutic strategies for mitochondrial optic neuropathies (MONs)”September 7, 2023
“Exploring the etiologies of multiple low level mitochondrial DNA deletions in muscle tissues”September 7, 2023
Safety, Efficacy and Mechanism of a Nicotinamidated Fumarate for Leigh SyndromeSeptember 7, 2023
“Metabolism and Epigenetics of Uveal Melanoma”September 7, 2023
“Pathogenic variants in MRPS18C cause a complex mitochondrial neurocardiac disorder”September 7, 2023
“Harnessing the potential of transcriptional adaptation for patients with rare mitochondrial gentic disorders”September 7, 2023
“Understanding the impact of SARS-CoV-2 on leukocyte mitochondrial function in MELAS patients and healthy, sex- and age matched controls.”September 7, 2023
“Understanding the impact of SARS-CoV-2 on leukocyte mitochondrial function in MELAS patients and healthy, sex- and age matched controls.”September 7, 2023
Leigh Syndrome – LSRP DCC Year 1September 7, 2023
Leigh Syndrome Natural History StudySeptember 7, 2023
Digital Video Assessment for PolG/PMM PatientsSeptember 7, 2023
Perlara Leigh Syndrome Roadmap ProjectSeptember 7, 2023
“The role of microglia in AIFM1-associated mitochondrial disease”September 7, 2023
“Systematic evaluation of laboratory primary endpoints of untargeted therapeutics for pyruvate dehydrogenase complex deficiency”September 7, 2023
“Resilience and coping in parents of individuals with primary mitochondrial disease: Quantitative and qualitative assessment”September 7, 2023
“Whole genome sequencing for the diagnosis of mitochondrial disease”September 7, 2023
“Establishing Embryonic Viability in GUK1-Deficient Mouse Model through Forodesine Treatment: A Potential Therapeutic Approach”September 7, 2023
“Development of in vitro models of the pathogenic m.3242G>A variant”September 7, 2023
“Probing the Pathogenic Mechanisms of Parkinsonism-Like Features in a Novel Primary Cell Model for Leigh Syndrome”September 7, 2023
“Pilot Study of Apple Watches for Monitoring Patients with Mitochondrial Disease.”September 7, 2023
“The Role of Metaxins in Mitochondrial Health and Homeostasis”September 7, 2023
“Mitochondrial ribosome signaling and survival mechanisms in mitochondrial disease”September 7, 2023
“Leveraging a preclinical animal model to repurpose FDA approved drugs for mtDNA depletion syndromes”September 7, 2023
North American Mitochondrial Disease ConsortiumSeptember 7, 2023
Mitochondrial Disease Sequence Data Resource ConsortiumSeptember 7, 2023
Gene therapy in mouse models of Leigh SyndromeSeptember 7, 2023
Induced Pluripotent stem cells (iPSC)-driven drug repositioning for Leigh SyndromeSeptember 7, 2023
Combining gene replacement and focused ultrasound to treat Leigh SyndromeSeptember 7, 2023
“Time to harmonize mitochondrial syndromes classification: a consensus from the North American Mitochondrial Disease Consortium (NAMDC)”September 7, 2023
“Development of a single-chain mitochondrial base editor”September 7, 2023
“Developing novel therapeutics for Leber Hereditary Optic Neuropathy (LHON) and utilizing in vitro models”September 7, 2023
“Improving emergency care for mitochondrial patients”September 7, 2023
“ATPIF1 Expression in Mitochondrial Disease”September 7, 2023
“Efficacy of Exercise in Patients with Mitochondrial Myopathy”September 7, 2023
Deletion Syndrome Roadmap ProjectSeptember 7, 2023
“Intellectual disability and mitochondrial disease: A cohort study”September 7, 2023
“Determination of disease-causing variant frequencies in genes associated with pyruvate dehydrogenase deficiency”September 7, 2023
“Impact of COVID-19 on People Living with Rare Disease and Their Families”September 7, 2023
“Effect of Putative Therapeutic Interventions on Cultured Skin Fibroblasts from Patients with Identified Pathological Mutations for Mitochondrial Disease”September 7, 2023
“An ATP synthesis assay to evaluate genetic variants in complex V”September 7, 2023
“Effect of Putative Therapeutic Interventions on Cultured Skin Fibroblasts from Patients with Identified Pathological Mutations for Mitochondrial Disease”September 7, 2023
Investigating intrinsic and extrinsic factors influencing mitochondrial heteroplasmy in mt-tRNA mutation-linked diseaseSeptember 7, 2023
“Implementation of the CRISPR gene editing technology Plasmids – toward the curing of mitochondrial diseases caused by mutations in mitochondrial DNA”September 7, 2023
Leigh Syndrome Natural History StudySeptember 7, 2023
“Mechanisms of protein assembly underlying mitochondrial DNA maintenance but altered in early-onset neurodegenerative disorders”September 7, 2023
“Modulation of the nuclear epigenome as a new strategy for mitochondrial DNA heteroplasmy shift”September 7, 2023
Using a variety of pre-clinical disease motels to identify novel drug candidates for the treatment of Leigh SyndromeSeptember 7, 2023
“Natural History of Mitochondrial Myopathy”September 7, 2023
MEPAN StudySeptember 7, 2023
“Manipulating Mitochondrial Metabolism Via The Mitochondrial Derived Compartment Pathway”September 7, 2023
“Can novel mitochondria-targeted hydrogen sulfide delivery molecules restore cellular bioenergetics in primary mitochondrial disease?”September 7, 2023
“Structural and Functional Characterization of COQ9 in Facilitating Coenzyme Q Biosynthesis and Complex Q Formation”September 7, 2023
?LHON Mood Study?September 7, 2023
“Pearson Syndrome Natrual History Study – Travel Funds Grant”September 7, 2023
?Study of Mouse Models of Mitochondrial Optic Neuropathies?September 7, 2023
?Photopic Negative Response as an Objective Biomarker in Mitochondrial Disease?September 7, 2023
Identification of SLC Family Members as Predictive Biomarkers for Mitochondrial Disease?September 7, 2023
?A Single Blood Draw Test of Mitochondrial Disease?September 7, 2023
“Identification of novel compounds to treat rare mitochondrial diseases”September 7, 2023
“Phenylbutyrate Therapy for Pyruvate Dehydrogenase Deficiency”September 7, 2023
“Development and Validation of a New Outcome Measure in Mitochondrial Disease”September 7, 2023
“Mitochondrial Complexome Profiling Provides a Novel Tool to Diagnose and Understand Complex I Deficiency”September 7, 2023
“Manipulating the Permeability Transition Pore to Ameliorate Neonatal Heart Failure”September 7, 2023
Cerebral Folate DeficiencySeptember 7, 2023
“Interrogating the Mitochondrial Interactome Using BioID”September 7, 2023
“Investigating the Pathogenesis of C12orf65 Deficiency in Mitochondrial Translation and Mitochondrial Disease”September 7, 2023
“Molecular Mechanisms for Suppression of Mitochondrial Disease by Acarbose”September 7, 2023
“Quality Control of Unimported Mitochondrial Precursor Proteins”September 7, 2023
?Characterizing the Function of the Atypical Mitochondrial Kinase ADCK3.?September 7, 2023
?Validation of an Observer Reported Outcome (ObsRO) Measure of Home Functionality in Children with Pyruvate Dehydrogenase Complex Deficiency (PDCD).??September 7, 2023
?Utility of FGF21 and GDF15 as Diagnostic and Prognostic Biomarkersof Mitochondrial Respiratory Chain Disorders.??September 7, 2023
?Kinetics of Mitochondrial Complex Assembly.??September 7, 2023
?Allotopic RNA Rescue of LHON Mouse Model.?September 7, 2023
?Vitamins B as Therapy for Disorders with mtDNA Instability.??September 7, 2023
?Targeted delivery of copper to mitochondria: investigating its therapeutic potential for the effective treatment of patients with mutations in SCO1 and SCO2.???September 7, 2023
?Development of an autologous myogenic stem cell therapy for carriers of a heteroplasmic mtDNA mutation, a proof of principle study.??September 7, 2023
?Pathogenesis of myopathies caused by mitochondrial phosphate carrier mutations.?September 7, 2023
?Modulation of GSK3 activity to maintain neuronal survival in complex IV deficient mouse.?September 7, 2023
?Developing specific mitochondrial nucleases to eliminate mutant mtDNA.?September 7, 2023
?A Human Reprogrammed-Cell Model of MELAS.?September 7, 2023
?Utilizing dynamically regulated phosphorylation as a means to modulate mitochondrial metabolism.?September 7, 2023
?Using mtDNA mutator mouse-derived lineages to generate mouse models of human mitochondrial diseases.?September 7, 2023
?Characterization of disease-specific mitochondrial stress-signaling pathways in vivoas potential therapeutic targets for mitochondrial diseases.?September 7, 2023
“Developing personalized mitochondrial disease treatment for SURF1 disease patients by modeling effects of candidate therapies in human patient cell and zebrafish animal models”September 7, 2023
?Improving CNS delivery of brain antioxidants after acute metabolic decompensation in mitochondrial disease.??September 7, 2023
?Hypogonadotropic hypogonadism in mitochondrial disease: prevalence, phenotypic heterogeneity and hormonal spectrum variations in a tertiary hospital cohort.?September 7, 2023
?A Genome-wide RNAi Screening to Identify New Genes Involved in Mitochondrial Diseases.?September 7, 2023
?Testing Gene Therapy in an Animal Model of Mitochondrial Respiratory Chain Disorders.?September 7, 2023
?Multifunctional Radical Quenchers (MRQs) for the Treatment of Mitochondrial Disorders- Exploration of the MRQ B Series?September 7, 2023
?Multifunctional Radical Quenchers (MRQs) for the Treatment of Mitochondrial Disorders- Evaluation in Cellular Disease Models?September 7, 2023
?Rescuing complex I defective mitochondria and target organs with methylene blue.?September 7, 2023
?Mechanisms and treatment of mitochondrial deafness.?September 7, 2023
?Preclinical studies for the gene therapy of mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). Long-term follow-up and use of adeno-associated viral vectors.?September 7, 2023
?Ultra-high-throughput screening for mitochondrial enhancers as novel targets for treating mitochondrial diseases.?September 7, 2023
?Estrogen mediated regulation of mitochondrial biogenesis and functions: possible therapeutic implications for Leber?s hereditary optic neuropathy.?September 7, 2023
?Therapeutic Interventions for Pyruvate Dehydrogenase Deficiency.?September 7, 2023
?Driving Selection Against Heteroplasmic Mitochondrial DNA Mutations by Enhancing Mitophagy.?September 7, 2023
?Deficiencies of tRNA maturation and the pathogenesis of mitochondrial diseases.?September 7, 2023
?Regulatory mechanisms governing TFAM-mediated mtDNA copy number control?September 7, 2023
?DMCA and Barth Syndromes- similar diseases caused by defects in mitochondrial protein import??September 7, 2023
?Spinocerebellar ataxia with axonal neuropathy: defining the mitochondrial component.?September 7, 2023
?Investigating the Rescue of Mitochondrial Dysfunction by SIRT1 and Calorie Restriction.?September 7, 2023
?Selecting for Transformation with Mitochondrial DNA.?September 7, 2023
?Mitochondrial dysfunction, exercise intolerance and myopathy in skeletal muscle-specific PGC-1?-deficient mice.?September 7, 2023
?Evaluation of novel zinc finger nucleases as a means to target m.3243A>G in vivo.?September 7, 2023
?Utilization of knockout mouse models to elucidate the importance of the de novo mitochondrial fatty acid synthesis pathway in mitochondrial function.?September 7, 2023
?OXPHOS modulation by mitochondrial protein phosphorylation in mtDNA mutant cells.?September 7, 2023
?The role of the PINK1/Parkin pathway in mitochondrial integrity.?September 7, 2023
?Mitochondrial Fusion Defects in Neurological Disease.?September 7, 2023
?Study of redox regulated pathways in the mitochondrion.?September 7, 2023
?Evaluation of the efficacy and safety of erythrocyte encapsulated thymidine phosphorylase therapy in two patients with mitochondrial neurogastrointestional encephalomyopathy.?September 7, 2023
?Identifying genetic modifiers of tissue-specific mitochondrial DNA segregation.?September 7, 2023
?Pilot study to investigate the efficacy of L-arginine therapy on endothelium-dependent vasodilation & mitochondrial metabolism in MELAS syndrome.?September 7, 2023
?Selective alteration of mitochondrial gene expression via modulation of the dual-function h-mtTFB1 and B2 factors as a potential therapy for mitochondrial diseases.?September 7, 2023
?Development of a Novel Mass Spectrometric Approach to Measure Mitochondrial Oxidative Damage?In Vivo.?September 7, 2023
?Increased mitochondrial biogenesis as therapy to mitochondrial myopathies.?September 7, 2023
?Cerium oxide nanoparticles in the treatment of mitochondrial diseases.?September 7, 2023
?Defining copper homeostasis in the mitochondria: Recruitment and distribution of copper for the assembly of cuproenzymes.?September 7, 2023
?Molecular genetic dissection of mitochondrial complex I assembly?September 7, 2023
?Mitochondrial calcium signaling and organelle dysfunction in mitochondrial diseases: molecular?determinants and regulatory mechanisms.?September 7, 2023
?Development of high throughput assays for mitochondrial respiratory chain function.?September 7, 2023
?Determination of the nuclear transcriptional responses that affect animal physiopathology upon impaired mitochondrial respiratory chain function.?September 7, 2023
?Development of high throughput mtDNA sequencing for mutation detection and heteroplasmy assessment.?September 7, 2023
?Mutant Complex I in?Drosophila melanogaster: a Novel Genetic Model for Mitochondrial Disease.?September 7, 2023
?Mitochondrial DNA synthesis and Krebs (tricarboxylic acid) cycle: the succinyl-CoA synthase.?September 7, 2023
?Animal models of human Barth syndrome, a mitochondrial cardiolipin disorder?September 7, 2023
?Molecular signatures of mitochondrial disorders?September 7, 2023
?Utilization of fission yeast as a model for mitochondrial morphology: a new approach to discover novel genes involved in animal cells?September 7, 2023
?Mitochondrial ribosomal proteins: candidate genes for mitochondrial disease?September 7, 2023
?Developing therapies for mitochondrial disease?September 7, 2023
?Enzymatic, assembly and genetic studies on the human pyruvate dehydrogenase multi-enzyme complex?September 7, 2023
?Enzymereplacement therapy: A novel approach for treating a mitochondrial disease-LAD deficiency?September 7, 2023
?Defective biogenesis of mitochondrial beta-barrel proteins as a cause for Mohr-Tranebjaerg syndrome?September 7, 2023
?High throughput screening for mitochondrial enhancers?September 7, 2023
?Barth Syndrome: A Mitochondrial Disease with Insights into Cardiolipin Synthesis?September 7, 2023
?Diagnostic Utility of DHPLC in Mitochondrial Disease?September 7, 2023
?MitoPLD, a novel enzymatic regulator of mitochondrial morphology and fusion?September 7, 2023
?Molecular Basis of Mitochondrial Gene Regulation?September 7, 2023
?The Population prevalence of ten mtDNA mutations?September 7, 2023
?Identification of novel genes associated with isolated complex I deficiency using whole genome mapping in small consanguineous families?September 7, 2023
?Mechanisms of muscle dysfunction studied in mouse models of mitochondrial myopathies?September 7, 2023
?Genotype-Phenotype Correlation and Genetic Modifiers in Barth Syndrome.??September 7, 2023
?Biochemical and structural studies on mitochondrial disease mutations in methionyl-tRNA.?September 7, 2023
?Role of mitofusin-2, a mitochondria-shaping protein mutated in Charcot-Marie-Tooth IIa, in controlling mitochondrial function and apoptosis.?September 7, 2023
?The assembly pathway of human cytochrome-c oxidase studied with RNA interference?September 7, 2023
?The Mechanism of Mitochondrial Dysfunction in Paraplegin-Deficient Mice.?September 7, 2023
?Genomic Approaches to Human Cytochrome c Oxidase Deficiency?September 7, 2023
?Development of a method for transforming mitochondria in living mammalian cells with exogenous DNA?September 7, 2023
?Protein phosphatase 2A in mitochondrial function and disease?September 7, 2023
?Restoration of thymidine phosphorylase activity in MNGIE patients through platelets infusion?September 7, 2023
?The nuclear-encoded gene OMI and mitochondrial disease?September 7, 2023
?The hypoxia sensing transcription factor EPAS1/HIF-2a is a novel mitochondrial disease candidate in mice and man?September 7, 2023
?Understanding the role of mitochondrial fusion in mitochondrial myopathies?September 7, 2023
?Drug development for the regulation of respiratory chain components in mitochondria?September 7, 2023
?Selective Elimination of Defective Mitochondrial Genomes as an Approach to the Reversal of NARP and MILS Syndromes, Heritable Mitochondrial Disorders?September 7, 2023
?GSH levels, reactive oxygen species production, lipid peroxidation, products and mitochondrial membrane potential in patients with mitochondrial disease?September 7, 2023
?Role of Rhomboid Proteolysis in Optic Atrophy?September 7, 2023
?Application of RNA interference in the study of NADH-ubiquinone oxidoreductase (complex I) assembly in mammalian mitochondria?September 7, 2023
?MtDNA complementation and recombination in mitochondrial disorders?September 7, 2023
?The Use of the Yeast CYB2 Gene As Therapy for Complex I Mutations in a C. elegans Model System?September 7, 2023
?Exploiting the potential of yeast NDI1 gene in the therapy of diseases linked with mtDNA?September 7, 2023
?Exercise-induced mitochondrial gene shifting: Resistance training as a therapy for sporadic mtDNA mutations?September 7, 2023
?Electrophysiologic Properties of Neural Stem Cells from Patients with Mitochondrial Disease?September 7, 2023
?Transport diseases in mitochondria: Full screening of DNA alterations in human genes encoding TOMM and TIMM complexes in patients with mitochondrial diseases?September 7, 2023
?Biochemical Basis for Maternally Inherited Deafness?September 7, 2023
?Efficacy of prenatal diagnosis of mitochondrial diseases.?September 7, 2023
?Complex I: The role of nuclear genes in disorders of childhood due to mitochondrial Complex I deficiency.?September 7, 2023
?Is oxidative damage a result of metabolic abnormalities in Alzheimer disease??September 7, 2023
?Characterization of Mitochondrial Nitric-Oxide Synthase?September 7, 2023
?Quantitative In Vivo 1H Magnetic Resonance Spectroscopic Imaging of Cerebral Lactate as a Screening Test for Mitochondrial Disorders?September 7, 2023
?Gene mutations in Leigh?s Disease?September 7, 2023
?Mitochondrial etiologies of pseudoobstruction and dysmotility in children?September 7, 2023
?Efficacy of Prenatal Diagnosis of Mitochondrial Diseases?September 7, 2023
?Search for Pathogenic Mitochondrial DNA Mutations Using Temporal Temperature Gradient Gel Electrophoresis (TTGE)?September 7, 2023
?Molecular Basis of Mitochondrial Membrane Dynamics: a New Paradigm of Human Disease?September 7, 2023