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| http://dx.doi.org/10.1161/CIRCULATIONAHA.120.048295 | DOI Listing |
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Functional assessment of the glycoproteins of a novel Hendra virus variant reveals contrasting fusogenic capacities of the receptor-binding and fusion glycoproteins.
mBio
December 2024
Department of Microbiology and Immunology, College of Veterinary Medicine, Cornell University, Ithaca, New York, USA.
Unlabelled: A novel Hendra virus (HeV) genotype (HeV genotype 2 [HeV-g2]) was recently isolated from a deceased horse, revealing high-sequence conservation and antigenic similarities with the prototypic strain, HeV-g1. As the receptor-binding (G) and fusion (F) glycoproteins of HeV are essential for mediating viral entry, functional characterization of emerging HeV genotypic variants is key to understanding viral entry mechanisms and broader virus-host co-evolution. We first confirmed that HeV-g2 and HeV-g1 glycoproteins share a close phylogenetic relationship, underscoring HeV-g2's relevance to global health.
View Article and Find Full Text PDFGolgi pH elevation due to loss of V-ATPase subunit V0a2 function correlates with tissue-specific glycosylation changes and globozoospermia.
Cell Mol Life Sci
December 2024
Institute of Human Genetics, University Medical Center Göttingen, 37073, Göttingen, Germany.
Loss-of-function variants in ATP6V0A2, encoding the trans Golgi V-ATPase subunit V0a2, cause wrinkly skin syndrome (WSS), a connective tissue disorder with glycosylation defects and aberrant cortical neuron migration. We used knock-out (Atp6v0a2) and knock-in (Atp6v0a2) mice harboring the R755Q missense mutation selectively abolishing V0a2-mediated proton transport to investigate the WSS pathomechanism. Homozygous mutants from both strains displayed a reduction of growth, dermis thickness, and elastic fiber formation compatible with WSS.
View Article and Find Full Text PDFMapping functional elements of the DNA damage response through base editor screens.
Cell Rep
December 2024
Biomedical Pioneering Innovation Center, Beijing Advanced Innovation Center for Genomics, Peking-Tsinghua Center for Life Sciences, Peking University Genome Editing Research Center, State Key Laboratory of Protein and Plant Gene Research, School of Life Sciences, Peking University, Beijing 100871, China; Changping Laboratory, Beijing 102206, China. Electronic address:
Maintaining genomic stability is vital for cellular equilibrium. In this study, we combined CRISPR-mediated base editing with pooled screening technologies to identify numerous mutations in lysine residues and protein-coding genes. The loss of these lysine residues and genes resulted in either sensitivity or resistance to DNA-damaging agents.
View Article and Find Full Text PDFNeonatal myoclonus in Bryant-Li-Bhoj syndrome associated with a novel H3F3A variant.
Hum Genome Var
December 2024
Department of Child Neurology, National Hospital Organization Nishiniigata Chuo Hospital, Niigata, Japan.
Article Synopsis
- Bryant-Li-Bhoj syndrome (BLBS) is a genetic disorder linked to mutations in the H3F3A and H3F3B genes, leading to developmental issues and physical abnormalities.
- A Japanese patient was identified with a new variant (p.A48G) in the H3F3A gene, showcasing additional symptoms not previously associated with BLBS, specifically neonatal myoclonus.
- This case expands our understanding of the range of symptoms associated with BLBS, highlighting the variability in how the syndrome can manifest.
p12 isoform-2 is a regulatory subunit of human DNA polymerase delta and is dysregulated in various cancers.
FEBS Lett
December 2024
Laboratory of Genomic Instability and Diseases, Department of Infectious Disease Biology, Institute of Life Sciences, Bhubaneswar, India.
Dysregulation of human DNA polymerase delta (Polδ) subunits is associated with genome instability and pathological disorders. Genome databases suggest the expression of several spliced variants of subunits which may alter Polδ function. Here, we analyzed the protein-encoding variants of the Polδ subunit p12 and their association with cancer.
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