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Room temperature sodium-sulfur batteries have been considered to be potential candidates for future energy storage devices because of their low cost, abundance, and high performance. The sluggish sulfur reaction and the "shuttle...

catalytic activity chemical absorption hollow N-doped carbon nanospheres polysulfides sodium-sulfur battery Carbon Catalysis Electric Power Supplies Iron Nanospheres Nitrogen sodium sulfur

This article examines the pro-environmental behaviour of EU citizens and the potential connection with their attitudes towards common environmental legislation and environmental standards. It analyses factors of the...

IT Policy & Standardization Computer Science and Information Technology IT Policy and Standardization

Background and objective: Recessive mutations in the SIL1 gene cause Marinesco-Sjögren syndrome (MSS), a rare neuropediatric disorder. MSS-patients typically present with congenital cataracts, intellectual disability, cerebellar...

FAM134B Marinesco-Sjögren syndrome biomarkers POC1A SIL1 missense mutation SIL1-interactome Centrosome

Laminin-211 deficiency leads to the most common form of congenital muscular dystrophy in childhood, MDC1A. The clinical picture is characterized by severe muscle weakness, brain abnormalities and delayed motor milestones...

NudC domain-containing protein 2 Agrin congenital muscular dystrophy laminin-211 laminin-α2 muscle proteomics

BACKGROUND: Marinesco-Sjögren Syndrome (MSS) is a rare neuromuscular condition caused by recessive mutations in the SIL1 gene resulting in the absence of functional SIL1 protein, a co-chaperone for the major ER chaperone, BiP....

Marinesco-Sjögren syndrome Neuromuscular Junction PNS pathology SIL1 Woozy Animals Gene Knockdown Techniques Guanine Nucleotide Exchange Factors Humans Mice Transgenic Muscle Skeletal Neuromuscular Junction Proteomics Sciatic Nerve Spinocerebellar Degenerations Zebrafish Zebrafish Proteins

Recessive mutations in DNAJC3, an endoplasmic reticulum (ER)-resident BiP co-chaperone, have been identified in patients with multisystemic neurodegeneration and diabetes mellitus. To further unravel these pathomechanisms, we...

DNAJC3 cholesterol-stress Mitochondria Proteomics Unfolded Protein Response (UPR)

Pandemic SARS-CoV-2 causes a mild to severe respiratory disease called coronavirus disease 2019 (COVID-19). While control of the SARS-CoV-2 spread partly depends on vaccine-induced or naturally acquired protective herd immunity...

covid-19 SARS-CoV-2 Molecular Dynamics Simulation RNA polymerase FAV00A Amizon

Pandemic SARS-CoV-2 causes a mild to severe respiratory disease called coronavirus disease 2019 (COVID-19). While control of the SARS-CoV-2 spread partly depends on vaccine-induced or naturally acquired protective herd immunity...

Amizon covid-19 FAV00A RNA polymerase SARS-CoV-2 Molecular Dynamics Simulation

Microtubules help building the cytoskeleton of neurons and other cells. Several components of the gamma-tubulin (γ-tubulin) complex have been previously reported in human neurodevelopmental diseases. We describe two siblings...

Myelin is a multilayered membrane that tightly wraps neuronal axons, enabling efficient, high-speed signal propagation. The axon and myelin sheath form tight contacts, mediated by specific plasma membrane proteins and lipids...

Krabbe disease galactosylceramide myelin neurofascin sulfatide Humans Sulfoglycosphingolipids Glycosphingolipids Carrier Proteins Nerve Growth Factors Myelin Sheath Cell Adhesion Molecules Demyelinating Diseases

l-serine BiP INPP5K Phgdh SIL1 Adolescent Adult Animals Child Female Guanine Nucleotide Exchange Factors Humans Inositol Polyphosphate 5-Phosphatases Male Middle Aged Muscle Skeletal Mutation Phenotype Phosphoglycerate Dehydrogenase Proteomics Spinocerebellar Degenerations Zebrafish

consanguineous families neurogenetic disease burden rate of consanguinity Whole exome sequencing Consanguinity Exome Homozygote Humans Mutation Pedigree Phenotype Exome Sequencing

Transport And Golgi Organization protein 2 (TANGO2) deficiency has recently been identified as a rare metabolic disorder with a distinct clinical and biochemical phenotype of recurrent metabolic crises, hypoglycemia, lactic...

TANGO2 fatty acid metabolism metabolic encephalomyopathy MITOCHONDRIAL DYSFUNCTION proteomic analysis rhabdomyolysis Brain Diseases Metabolic Fatty Acids Female Golgi Apparatus Homozygote Humans Infant Male Mitochondrial Diseases Muscle Weakness Mutation Oxidative Phosphorylation Phenotype Proteomics Rhabdomyolysis whole genome sequencing

Reversible infantile respiratory chain deficiency (RIRCD) is a rare mitochondrial myopathy leading to severe metabolic disturbances in infants, which recover spontaneously after 6-months of age. RIRCD is associated with the...

digenic inheritance homoplasmic tRNA mutation mitochondrial myopathy reversible infantile respiratory chain deficiency Adolescent Cell Line DNA Mitochondrial Female Gene Expression Humans Infant Male Mitochondria Mitochondrial Diseases Mitochondrial Myopathies Mitochondrial Proteins Mutation Pedigree Proteomics Quadriceps Muscle tRNA Methyltransferases