Publications by authors named "F Degrugillier"
Plasmodium vivax is the predominant malaria parasite in Latin America. Its colonization history in the region is rich and complex, and is still highly debated, especially about its origin(s). Our study employed cutting-edge population genomic techniques to analyze whole genome variation from 620 P.
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- - Caliciviruses and astroviruses are major causes of non-bacterial foodborne illnesses and gastroenteritis in humans, with rodents being key hosts for these viruses and many zoonotic pathogens that can affect humans.
- - A study screened 245 rodent intestine samples for these viruses, finding no caliciviruses but detecting astroviruses in 18 samples, specifically from the Rattus rattus species.
- - Phylogenetic analysis revealed that the detected astroviruses are closely related to strains found in Gabon, Kenya, and Asia, indicating that transportation methods may promote the spread of these viruses through rodent populations.
Background: The majority of variants of unknown clinical significance (VUCS) in the CFTR gene are missense variants. While change on the CFTR protein structure or function is often suspected, impact on splicing may be neglected. Such undetected splicing default of variants may complicate the interpretation of genetic analyses and the use of an appropriate pharmacotherapy.
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- - Limb-girdle muscular dystrophy type R3 (LGMD R3) is a genetic disorder resulting from mutations in the alpha-sarcoglycan (α-SG) gene, leading to muscle weakness.
- - Researchers conducted a study to find drugs that enhance the effectiveness of the proteasome inhibitor bortezomib in degrading the misfolded R77C-α-SG protein, identifying the HDAC inhibitor givinostat as a promising candidate.
- - Givinostat's therapeutic action appears to inhibit the autophagic pathway, suggesting new insights into how misfolded SG proteins are degraded and indicating potential for treating other diseases with similar degradation issues.
Human small heat shock proteins are molecular chaperones that regulate fundamental cellular processes in normal and pathological cells. Here, we have reviewed the role played by HspB1, HspB4 and HspB5 in the context of Cystic Fibrosis (CF), a severe monogenic autosomal recessive disease linked to mutations in Cystic Fibrosis Transmembrane conductance Regulator protein (CFTR) some of which trigger its misfolding and rapid degradation, particularly the most frequent one, F508del-CFTR. While HspB1 and HspB4 favor the degradation of CFTR mutants, HspB5 and particularly one of its phosphorylated forms positively enhance the transport at the plasma membrane, stability and function of the CFTR mutant.
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