Evaluation of the Genetically Diagnosed Mitochondrial Disease Cases with Neuromuscular Involvement
Journal of Behçet Uz Children's Hospital, 2022 Objective: Due to the fact that mitochondrial diseases can involve different organ systems, neuromuscular involvement is frequently observed and has a substantial place in clinical practice. In this study, the clinical, radiological, electrophysiological
Çağatay Günay +8 more
doaj +1 more source
Human mitochondrial degradosome prevents harmful mitochondrial R loops and mitochondrial genome instability [PDF]
, 2018 R loops are nucleic acid structures comprising an DNA-RNA hybrid and a displaced single-stranded DNA. These structures may occur transiently during transcription, playing essential biological functions. However, persistent R loops may become pathological
Aguilera López, Andrés +2 more
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A novel polyribonucleotide nucleotidyltransferase 1 (<i>PNPT1</i>) gene variant potentially associated with combined oxidative phosphorylation deficiency 13: case report and literature review. [PDF]
Transl PediatrCombined oxidative phosphorylation deficiency 13 (COXPD13) results from mutations in the mitochondrial polyribonucleotide nucleotidyltransferase 1 (PNPT1) gene. However, none of COXPD13 is reported in China. This study presents the clinical and molecular genetic features of an infant of Chinese descent identified with a novel PNPT1 mutation, which may ...
Li YY, Gao Y, Zhong XX, Chen GF.
europepmc +3 more sources
Redox stress defines the small artery vasculopathy of hypertension: how do we bridge the bench-to-bedside gap? [PDF]
, 2017 Although convincing experimental evidence demonstrates the importance of vascular reactive oxygen and nitrogen species (RONS), oxidative stress, and perturbed redox signaling as causative processes in the vasculopathy of hypertension, this has not ...
Liang, Mingyu +4 more
core +1 more source
Modulation of Neurogenesis through the Promotion of Energy Production Activity Is behind the Antidepressant-Like Effect of Colonial Green Alga, Botryococcus braunii [PDF]
, 2017 Algae have been recognized as important resources providing functional components due to their capacity to exert beneficial effects on health. Therefore, there is increasing interest in investigating the biological activity of algae.
Demura Mikihide +6 more
core +1 more source
The association between epilepsy and COVID-19: analysis based on Mendelian randomization and FUMA
Frontiers in Neuroscience, 2023 ObjectiveA multitude of observational studies have underscored a substantial comorbidity between COVID-19 and epilepsy. This study was aimed at establishing a conclusive causal link between these two conditions.MethodsWe employed Mendelian randomization (
Mingyao You +5 more
doaj +1 more source
Mitochondrial Genome Engineering: The Revolution May Not Be CRISPR-Ized. [PDF]
, 2018 In recent years mitochondrial DNA (mtDNA) has transitioned to greater prominence across diverse areas of biology and medicine. The recognition of mitochondria as a major biochemical hub, contributions of mitochondrial dysfunction to various diseases, and
Gammage, Payam A +2 more
core +1 more source
Hypoxia Regulates Endogenous Double-Stranded RNA Production via Reduced Mitochondrial DNA Transcription. [PDF]
, 2021 Hypoxia is a common phenomenon in solid tumours strongly linked to the hallmarks of cancer. Hypoxia promotes local immunosuppression and downregulates type I interferon (IFN) expression and signalling, which contribute to the success of many cancer ...
Adrian L. Harris +10 more
core +5 more sources
Analysis of host microRNA function uncovers a role for miR-29b-2-5p in Shigella capture by filopodia. [PDF]
PLoS Pathogens, 2017 MicroRNAs play an important role in the interplay between bacterial pathogens and host cells, participating as host defense mechanisms, as well as exploited by bacteria to subvert host cellular functions.
Ushasree Sunkavalli +8 more
doaj +1 more source
Co-expression network of neural-differentiation genes shows specific pattern in schizophrenia [PDF]
, 2015 Background: Schizophrenia is a neurodevelopmental disorder with genetic and environmental factors contributing to its pathogenesis, although the mechanism is unknown due to the difficulties in accessing diseased tissue during human neurodevelopment.
A Baumont de +81 more
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