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Mitochondrial DNA Profiling
Mitochondrial DNA (mtDNA) is a versatile tool in understanding the clinical and non-clinical aspects attributed by the nucleotide sequences. The...
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Mitochondrial DNA mutation affects the pluripotency of embryonic stem cells with metabolism modulation
Mitochondria are the only organelles other than the nucleus harboring their DNA in mammalian cells. The mitochondrial DNA (mtDNA) mutation is the...
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A novel pathogenic mitochondrial DNA variant m.4344T>C in tRNAGln causes developmental delay
Mitochondrial diseases are a group of genetic diseases caused by mutations in mitochondrial DNA and nuclear DNA. However, the genetic spectrum of...
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DNA2 mutation causing multisystemic disorder with impaired mitochondrial DNA maintenance
PurposeTo describe a novel DNA2 variant contributing to defects in mtDNA maintenance and mtDNA depletion syndrome (MDS), and the clinical and...
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Mitochondrial DNA mutations in Medulloblastoma
To date, several studies on genomic events underlying medulloblastoma (MB) biology have expanded our understanding of this tumour entity and led to...
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Mitochondrial DNA Mutations in Cardiovascular Diseases
Early prevention of the development and timely diagnosis of cardiovascular system diseases are some of the main problems in modern cardiology. One...
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Rapamycin rescues mitochondrial dysfunction in cells carrying the m.8344A > G mutation in the mitochondrial tRNALys
BackgroundMyoclonus, Epilepsy and Ragged-Red-Fibers (MERRF) is a mitochondrial encephalomyopathy due to heteroplasmic mutations in mitochondrial DNA...
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Optimized allotopic expression of mitochondrial ND6 transgene restored complex I and apoptosis deficiencies caused by LHON-linked ND6 14484T > C mutation
BackgroundLeber’s hereditary optic neuropathy (LHON) is a maternally inherited eye disease due to mutations in mitochondrial DNA. However, there is...
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Mitochondrial DNA-triggered innate immune response: mechanisms and diseases
Various cellular stress conditions trigger mitochondrial DNA (mtDNA) release from mitochondria into the cytosol. The released mtDNA is sensed by the...
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G2019S selective LRRK2 kinase inhibitor abrogates mitochondrial DNA damage
Pathogenic mutations in LRRK2 cause Parkinson’s disease (PD). The G2019S variant is the most common, which results in abnormally high kinase...
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Presenilin2 D439A Mutation Induces Dysfunction of Mitochondrial Fusion/Fission Dynamics and Abnormal Regulation of GTPase Activity
Alzheimer’s disease (AD) is an age-related progressive neurodegenerative disease, and approximately 10% of AD cases are early-onset familial AD...
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Clinical and molecular findings in a Chinese family with a de novo mitochondrial A1555G mutation
BackgroundThe mitochondrial 12S rRNA A1555G mutation is the most prevalent deafness-causing mitochondrial DNA (mtDNA) mutation and is inherited...
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Metastatic pattern of ovarian cancer delineated by tracing the evolution of mitochondrial DNA mutations
Ovarian cancer (OC) is the most lethal gynecologic tumor and is characterized by a high rate of metastasis. Challenges in accurately delineating the...
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Cellular and Molecular Responses to Mitochondrial DNA Deletions in Kearns-Sayre Syndrome: Some Underlying Mechanisms
Kearns-Sayre syndrome (KSS) is a rare multisystem mitochondrial disorder. It is caused by mitochondrial DNA (mtDNA) rearrangements, mostly...
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POLG2-Linked Mitochondrial Disease: Functional Insights from New Mutation Carriers and Review of the Literature
Different pathogenic variants in the DNA polymerase-gamma2 (POLG2) gene cause a rare, clinically heterogeneous mitochondrial disease. We detected a...
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Mitochondrial DNA Analysis in Population Isolates: Challenges and Implications for Human Identification
Purpose of ReviewMitochondrial DNA (mtDNA) plays an essential role in forensic science, aiding in human identification especially when dealing with...
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Validating a Mitochondrial Sweep Accompanying the Rapid Spread of a Maternally Inherited Symbiont
Maternally inherited symbiotic bacteria that interfere with the reproduction of their hosts can contribute to selective sweeps of mitochondrial...
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Modulating Mitochondrial DNA Heteroplasmy with Mitochondrially Targeted Endonucleases
Mitochondria, mainly known as energy factories of eukaryotic cells, also exert several additional signaling and metabolic functions and are today...
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Blocking reverse electron transfer-mediated mitochondrial DNA oxidation rescues cells from PANoptosis
PANoptosis is a new type of cell death featured with pyroptosis, apoptosis and necroptosis, and is implicated in organ injury and mortality in...
