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Giant axonal neuropathy (GAN): cross-sectional data on phenotypes, genotypes, and proteomic signature from a German cohort.
J Neurol
December 2024
Department of Pediatric Neurology, Centre for Neuromuscular Disorders, C-TNBS, University Duisburg-Essen, Essen, Germany.
Giant axonal neuropathy (GAN) is a progressive neurodegenerative disease affecting the peripheral and central nervous system and is caused by bi-allelic variants in the GAN gene, leading to loss of functional gigaxonin protein. A treatment does not exist, but a first clinical trial using a gene therapy approach has recently been completed. Here, we conducted the first systematic study of GAN patients treated by German-speaking child neurologists.
View Article and Find Full Text PDFPurinergic receptor P2X7 regulates interleukin-1α mediated inflammation in chronic kidney disease in a reactive oxygen species-dependent manner.
Kidney Int
November 2024
Molecular Biophysics, Saarland University, Homburg, Germany. Electronic address:
Onset, progression and cardiovascular outcome of chronic kidney disease (CKD) are influenced by the concomitant sterile inflammation. The pro-inflammatory cytokine family interleukin (IL)-1 is crucial in CKD with the key alarmin IL-1α playing an additional role as an adhesion molecule that facilitates immune cell tissue infiltration and consequently inflammation. Here, we investigate calcium ion and reactive oxygen species (ROS)-dependent regulation of different aspects of IL-1α-mediated inflammation.
View Article and Find Full Text PDFA model for polyomavirus helicase activity derived in part from the AlphaFold2 structure of SV40 T-antigen.
J Virol
October 2024
Department of Developmental, Molecular and Chemical Biology, Tufts University School of Medicine, Boston, Massachusetts, USA.
Unlabelled: The mechanism used by polyomavirus and other viral SF3 helicases to unwind DNA at replication forks remains unknown. Using AlphaFold2, we have determined the structure of a representative SF3 helicase, the SV40 T-antigen (T-ag). This model has been analyzed in terms of the features of T-ag required for helicase activity, particularly the proximity of the T-ag origin binding domain (OBD) to the replication fork and the distribution of basic residues on the surface of the OBD that are known to play roles in DNA unwinding.
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- Researchers used varied experimental searches with and without missing transverse momentum to analyze a Two-Higgs-Doublet Model (2HDM) augmented by a pseudo-scalar that mediates interactions between ordinary and dark matter.
- The analysis utilized data from proton-proton collisions at 13 TeV collected by the ATLAS detector at the Large Hadron Collider between 2015 and 2018, totaling up to 139 fb.
- Three key searches were statistically combined, focusing on large missing transverse momentum along with decaying Z bosons, Higgs bosons decaying to bottom quarks, and charged Higgs bosons interacting with top and bottom quarks, to derive constraints for various benchmark scenarios in the 2HDM+a
Hyperglycemia, and exacerbation of pre-existing deficits in glucose metabolism, are manifestations of the post-acute sequelae of SARS-CoV-2. Our understanding of metabolic decline after acute COVID-19 remains unclear due to the lack of animal models. Here, we report a non-human primate model of metabolic post-acute sequelae of SARS-CoV-2 using SARS-CoV-2 infected African green monkeys.
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