Mitochondrial Diseases

Mitochondrial tRNA sequences as unusual replication origins: pathogenic implications for Homo sapiens

Aging / DNA replication / Mitochondria / Theoretical biology / Biological Sciences / Humans / Mutation / Mathematical Sciences / Functional Capacity / Homo Sapiens / Genome / Mitochondrial Genome / Mitochondrial Diseases / Genome Organization / Secondary Structure / single stranded DNA / Cumulant / Humans / Mutation / Mathematical Sciences / Functional Capacity / Homo Sapiens / Genome / Mitochondrial Genome / Mitochondrial Diseases / Genome Organization / Secondary Structure / single stranded DNA / Cumulant

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Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing

Medical Genetics / Gene expression / Biological Sciences / Humans / Mutation / Mitochondrial Diseases / Amino Acid Substitution Rates / Exome / Mitochondrial Diseases / Amino Acid Substitution Rates / Exome

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TigarB causes mitochondrial dysfunction and neuronal loss in PINK1 deficiency

Mitochondria / Animals / Microglia / Clinical Sciences / Mitochondrial Diseases / Larva / Zebrafish / Neurosciences / Dopaminergic Neurons / Parkinson Disease / Larva / Zebrafish / Neurosciences / Dopaminergic Neurons / Parkinson Disease

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Preimplantation genetic diagnosis for mitochondrial DNA disorders: ethical guidance for clinical practice

Genetics / Ethics / Human Genetics / Informed Consent / Molecular Genetics / Genetic counseling / Cytogenetics / Clinical Practice / Pregnancy / Mitochondrial DNA / Humans / Genetic Testing / Mutation / Female / Feasibility Studies / Clinical Genetics / Preimplantation genetic diagnosis / Embryo Research / Mitochondrial Diseases / Scientific Research / Minor / Health risk / Embryos / Clinical Application / Good Clinical Practice in Clinical Trials / Genetic counseling / Cytogenetics / Clinical Practice / Pregnancy / Mitochondrial DNA / Humans / Genetic Testing / Mutation / Female / Feasibility Studies / Clinical Genetics / Preimplantation genetic diagnosis / Embryo Research / Mitochondrial Diseases / Scientific Research / Minor / Health risk / Embryos / Clinical Application / Good Clinical Practice in Clinical Trials

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TigarB causes mitochondrial dysfunction and neuronal loss in PINK1 deficiency

Mitochondria / Animals / Microglia / Clinical Sciences / Mitochondrial Diseases / Larva / Zebrafish / Neurosciences / Dopaminergic Neurons / Parkinson Disease / Larva / Zebrafish / Neurosciences / Dopaminergic Neurons / Parkinson Disease

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Respiratory chain deficiency presenting as congenital nephrotic syndrome

Membrane Proteins / Biopsy / Humans / Kidney / Female / Male / Mitochondrial Respiratory Chain / Differential Diagnosis / Pediatric Nephrology / Proteins / Pediatric / Newborn Infant / Mitochondrial Diseases / Renal disease / Nephrotic syndrome / Male / Mitochondrial Respiratory Chain / Differential Diagnosis / Pediatric Nephrology / Proteins / Pediatric / Newborn Infant / Mitochondrial Diseases / Renal disease / Nephrotic syndrome

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Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing

Medical Genetics / Gene expression / Biological Sciences / Humans / Mutation / Mitochondrial Diseases / Amino Acid Substitution Rates / Exome / Mitochondrial Diseases / Amino Acid Substitution Rates / Exome

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Influence of mitochondrial DNA level on cellular energy metabolism: implications for mitochondrial diseases

Bioenergetics / Energy Metabolism / Cell line / Mitochondrial DNA / Humans / Computer Simulation / Animals / Mitochondrial Respiratory Chain / Mitochondrial Diseases / Energy Production / Oxidative phosphorylation / Biochemistry and cell biology / Computer Simulation / Animals / Mitochondrial Respiratory Chain / Mitochondrial Diseases / Energy Production / Oxidative phosphorylation / Biochemistry and cell biology

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CoQ10 deficiencies and MNGIE: Two treatable mitochondrial disorders

Mitochondria / Biological Sciences / Mitochondrial DNA / Humans / Physical sciences / Mitochondrial Diseases / Coenzyme Q / Biochemistry and cell biology / Mitochondrial Diseases / Coenzyme Q / Biochemistry and cell biology

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Complex V TMEM70 deficiency results in mitochondrial nucleoid disorganization

Genetics / Electron Microscopy / Membrane Proteins / Mitochondria / Tomography / Mitochondrial DNA / Humans / Mutation / Female / Male / ATP synthase / Mitochondrial Respiratory Chain / Newborn Infant / Mitochondrial Diseases / Adult / Cardiomyopathies / Human Fibroblasts / Mitochondrion / Mitochondrial DNA / Humans / Mutation / Female / Male / ATP synthase / Mitochondrial Respiratory Chain / Newborn Infant / Mitochondrial Diseases / Adult / Cardiomyopathies / Human Fibroblasts / Mitochondrion

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Complex V TMEM70 deficiency results in mitochondrial nucleoid disorganization

Genetics / Electron Microscopy / Membrane Proteins / Mitochondria / Tomography / Mitochondrial DNA / Humans / Mutation / Female / Male / ATP synthase / Mitochondrial Respiratory Chain / Newborn Infant / Mitochondrial Diseases / Adult / Cardiomyopathies / Human Fibroblasts / Mitochondrial DNA / Humans / Mutation / Female / Male / ATP synthase / Mitochondrial Respiratory Chain / Newborn Infant / Mitochondrial Diseases / Adult / Cardiomyopathies / Human Fibroblasts

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Normal Serum Alanine Concentration Differentiates Transient Neonatal Lactic Acidemia from an Inborn Error of Energy Metabolism

Decision Making / Energy Metabolism / Mitochondrial DNA / Humans / Mutation / Inborn errors of metabolism / Differential Diagnosis / Clinical Sciences / Newborn Infant / Mitochondrial dysfunction / Mitochondrial Diseases / Pilot study / Oxidative phosphorylation / Alanine / Pilot Projects / Lactic Acid / Inborn errors of metabolism / Differential Diagnosis / Clinical Sciences / Newborn Infant / Mitochondrial dysfunction / Mitochondrial Diseases / Pilot study / Oxidative phosphorylation / Alanine / Pilot Projects / Lactic Acid

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Habitual Physical Activity in Mitochondrial Disease

Physical Activity / Exercise therapy / Multidisciplinary / Humans / Mutation / Habits / Female / Male / Risk factors / Phenotype / PLoS one / Mitochondrial Diseases / Neuromuscular Disease / Genotype / Adult / Risk Factors / Clinical Presentation / Control Group / Motor activity / Habits / Female / Male / Risk factors / Phenotype / PLoS one / Mitochondrial Diseases / Neuromuscular Disease / Genotype / Adult / Risk Factors / Clinical Presentation / Control Group / Motor activity

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Folate deficiency increases mtDNA and D-1 mtDNA deletion in aged brain of mice lacking uracil-DNA glycosylase

Psychology / Aging / DNA repair / Neurodegenerative Diseases / Mitochondrial DNA / Mice / Animals / Peroxisome proliferator-activated receptor / Transcription Factor / Clinical Sciences / Mitochondrial Diseases / mRna expression levels / Experimental / Experimental Neurology / Lactate dehydrogenase / Cognitive Decline / Neurosciences / Citrate Synthase / Brain Diseases / Uracil Dna Glycosylase / Down-Regulation / Mice / Animals / Peroxisome proliferator-activated receptor / Transcription Factor / Clinical Sciences / Mitochondrial Diseases / mRna expression levels / Experimental / Experimental Neurology / Lactate dehydrogenase / Cognitive Decline / Neurosciences / Citrate Synthase / Brain Diseases / Uracil Dna Glycosylase / Down-Regulation

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Complex V TMEM70 deficiency results in mitochondrial nucleoid disorganization

Genetics / Electron Microscopy / Membrane Proteins / Mitochondria / Tomography / Mitochondrial DNA / Humans / Mutation / Female / Male / ATP synthase / Mitochondrial Respiratory Chain / Newborn Infant / Mitochondrial Diseases / Adult / Cardiomyopathies / Human Fibroblasts / Mitochondrial DNA / Humans / Mutation / Female / Male / ATP synthase / Mitochondrial Respiratory Chain / Newborn Infant / Mitochondrial Diseases / Adult / Cardiomyopathies / Human Fibroblasts

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Localized cerebral energy failure in DNA polymerase gamma-associated encephalopathy syndromes

Magnetic Resonance Imaging / Epilepsy / Electroencephalography / Magnetic Resonance Spectroscopy / Energy Metabolism / Stroke / Brain / Mitochondrial DNA / Humans / Cerebellum / Thalamus / Mutation / Mitochondrial Diseases / Neocortex / Arginine / Disease Progression / Cysteine / Glycine / Sensitivity and Specificity / X ray Computed Tomography / Syndrome / DNA Polymerase / Brain Diseases / Magnetic resonance angiography / Stroke / Brain / Mitochondrial DNA / Humans / Cerebellum / Thalamus / Mutation / Mitochondrial Diseases / Neocortex / Arginine / Disease Progression / Cysteine / Glycine / Sensitivity and Specificity / X ray Computed Tomography / Syndrome / DNA Polymerase / Brain Diseases / Magnetic resonance angiography

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