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Glutathione Mitochondria mitochondria targeting redox signaling thiol redox state thioredoxin

This work investigated the impact of formulation including in vitro release profile, repeated dosing, and nail poration on the ex vivo nail delivery performance of antifungal formulations. Chitosan coated and uncoated...

Nail nanocapsules tioconazole onychomycosis multiple dosing poration.

mitochondrial disease Proteasome protein degradation protein import

Alternative oxidases (AOXs) bypass respiratory complexes III and IV by transferring electrons from coenzyme Q directly to O2. They have therefore been proposed as a potential therapeutic tool for mitochondrial diseases. We...

ROS alternative oxidase antioxidant Autophagy mitochondrial biogenesis mitochondrial disease redox signaling satellite cells stress responses Animals Autophagy Female Male Mice Mice Inbred C57BL Mice Knockout Mitochondrial Myopathies Mitochondrial Proteins Muscle Skeletal Organelle Biogenesis Oxidation-Reduction Oxidoreductases Plant Proteins Reactive Oxygen Species Signal Transduction

This work investigated the impact of formulation including in vitro release profile, repeated dosing, and nail poration on the ex vivo nail delivery performance of antifungal formulations. Chitosan coated and uncoated...

Nail nanocapsules tioconazole onychomycosis multiple dosing poration.

The mTOR inhibitor rapamycin ameliorates the clinical and biochemical phenotype of mouse, worm, and cellular models of mitochondrial disease, via an unclear mechanism. Here, we show that prolonged rapamycin treatment improved...

Autophagy lysosomal biogenesis mTORC1 mitochondrial disease rapamycin Animals Autophagy Basic Helix-Loop-Helix Leucine Zipper Transcription Factors Electron Transport Complex IV Lysosomes Mice Inbred C57BL Mice Knockout Mitochondria Mitochondrial Myopathies Motor Activity Muscles Organelle Biogenesis Phenotype Rilmenidine Sirolimus TOR Serine-Threonine Kinases

OBJECTIVE: To expand the clinical phenotype of POLR3A mutations by assessing the functional consequences of a missense and a splicing acceptor mutation. METHODS: We performed whole-exome sequencing for identification of likely...

Rare Diseases Neurodegenerative Biotechnology Neurosciences Genetics 2 Aetiology 2.1 Biological and endogenous factors

Loss-of-function mutations in APOPT1, a gene exclusively found in higher eukaryotes, cause a characteristic type of cavitating leukoencephalopathy associated with mitochondrial cytochrome c oxidase (COX) deficiency. Although the...

APOPT1‐COA8 cytochrome c oxidase mitochondrial encephalopathy proteasome–ubiquitin system Reactive Oxygen Species Animals Apoptosis Regulatory Proteins Cells Cultured Electron Transport Complex IV Genetic Complementation Test Humans Mice Mice Knockout Mitochondrial Proteins Protein Multimerization Reactive Oxygen Species Unfolded Protein Response

Mitochondrial complex I (CI) deficiency is the most common oxidative phosphorylation disorder described. It shows a wide range of phenotypes with poor correlation within genotypes. Herein we expand the clinics and genetics of CI...

Leigh syndrome Mitochondrial Diseases Metabolic acidosis encephalomyopathies

Mutations in RAPSN are an important cause of congenital myasthenic syndrome (CMS), leading to endplate acetylcholine receptor deficiency. We present three RAPSN early-onset CMS patients (from a Brazilian cohort of 61 CMS...

Congenital myasthenia Congenital myasthenic syndrome RAPSN neuromuscular rapsyn Adolescent Adult Alleles Brazil Child DNA Mutational Analysis Disease Progression Female Humans Male Muscle Proteins Mutation Myasthenic Syndromes Congenital Phenotype

BACKGROUND: Mitochondria provide ATP through the process of oxidative phosphorylation, physically located in the inner mitochondrial membrane (IMM). The mitochondrial contact site and organising system (MICOS) complex is known...

Clinical genetics Genetics metabolic disorders Neuromuscular disease

Neural stem cell (NSC) transplantation induces recovery in animal models of central nervous system (CNS) diseases. Although the replacement of lost endogenous cells was originally proposed as the primary healing mechanism of NSC...

Animals Biological Transport Cells Cultured extracellular vesicles Female Green Fluorescent Proteins Mesenchymal Stem Cells Mice Mice Inbred C57BL Mice Transgenic Mitochondria Neural Stem Cells

Neural stem cell (NSC) transplantation induces recovery in animal models of central nervous system (CNS) diseases. Although the replacement of lost endogenous cells was originally proposed as the primary healing mechanism of NSC...

RESEARCH ARTICLE Biology and life sciences Medicine and Health Sciences Research and analysis methods

BACKGROUND: Heterogeneous mental health outcomes during the COVID-19 pandemic are documented in the general population. Such heterogeneity has not been systematically assessed in youth with autism spectrum disorder (ASD) and...

Autism spectrum disorder behavioral problems Covid-19 pandemic Mental health outcomes Neurodevelopmental conditions PREDICTION Public Health Risk and resilience factors Sleep Female Humans Adolescent Child Mental Health covid-19 Autistic Disorder Pandemics Autism spectrum disorder Cross-Sectional Studies

Background

Heterogeneous mental health outcomes during the COVID-19 pandemic are documented in the general population. Such heterogeneity has not been systematically assessed in youth with autism spectrum disorder (ASD)...

PREDICTION Sleep Public Health Autism spectrum disorder behavioral problems Risk and resilience factors Mental health outcomes Neurodevelopmental conditions Covid-19 pandemic Humans Cross-Sectional Studies Mental Health Autistic Disorder Adolescent Child Female Pandemics covid-19

Markov model acoustic communication INFORMATION information theory Machine Learning meaning Network analysis Sequence Analysis vocalisation acoustics Animals Markov Chains Models Biological Perception Vocalization Animal