Publications by authors named "Massi F"

Article Synopsis
  • The novel HLA-B*35:20:03 allele is a variant of the HLA-B*35:20:01 allele.
  • The difference between these two alleles is a single nucleotide change from C to A in exon 4.
  • This genetic variation may have implications for immune response and disease susceptibility.
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Folding intermediates mediate both protein folding and the misfolding and aggregation observed in human diseases, including amyotrophic lateral sclerosis (ALS), and are prime targets for therapeutic interventions. In this study, we identified the core nucleus of structure for a folding intermediate in the second RNA recognition motif (RRM2) of the ALS-linked RNA-binding protein, TDP-43 (TAR DNA-binding protein-43), using a combination of experimental and computational approaches. Urea equilibrium unfolding studies revealed that the RRM2 intermediate state consists of collapsed residual secondary structure localized to the N-terminal half of RRM2, while the C-terminus is largely disordered.

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CCCH-type tandem zinc finger (TZF) motifs are found in many RNA-binding proteins involved in regulating mRNA stability, translation, and splicing. In , several RNA-binding proteins that regulate embryonic development and cell fate determination contain CCCH TZF domains, including POS-1. Previous biochemical studies have shown that despite high levels of sequence conservation, POS-1 recognizes a broader set of RNA sequences compared to the human homologue tristetraprolin.

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Folding intermediates mediate both protein folding and the misfolding and aggregation observed in human diseases, including amyotrophic lateral sclerosis (ALS), and are prime targets for therapeutic interventions. In this study, we identified the core nucleus of structure for a folding intermediate in the second RNA recognition motif (RRM2) of the ALS-linked RNA-binding protein, TDP-43, using a combination of experimental and computational approaches. Urea equilibrium unfolding studies revealed that the RRM2 intermediate state consists of collapsed residual secondary structure localized to the N-terminal half of RRM2, while the C-terminus is largely disordered.

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Article Synopsis
  • Microglia, immune cells in the brain, are key players in neurodegenerative diseases, but the exact reasons for their dysfunction are still not fully understood.
  • This study focuses on microglia-like cells derived from human stem cells with mutations in the PFN1 gene linked to ALS, revealing significant metabolic and functional impairments, such as lipid dysregulation and poor phagocytosis.
  • The research suggests that the mutated PFN1 gene may lead to toxic effects in important cellular processes, but treatment with rapamycin can improve the disturbed functions in these cells, highlighting their potential in studying neurodegenerative diseases.
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Microdeletion syndromes are genetic diseases caused by multilocus chromosomal deletions too small to be detected by karyotyping. They are typified by complex pleiotropic developmental phenotypes that depend both on the extent of the deletion and variations in genetic background. Microdeletion alleles cause a wide array of consequences involving multiple pathways.

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Despite numerous studies uncovering the neural signature of tactile processing, tactile afferent inputs relating to the contact surface has not been studied so far. Foot tactile receptors being the first stimulated by the relative movement of the foot skin and the underneath moving support play an important role in the sensorimotor transformation giving rise to a postural reaction. A biomimetic surface, i.

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Self-generated movement shapes tactile perception, but few studies have investigated the brain mechanisms involved in the processing of the mechanical signals related to the static and transient skin deformations generated by forces and pressures exerted between the foot skin and the standing surface. We recently found that standing on a biomimetic surface (i.e.

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Microglia play a pivotal role in neurodegenerative disease pathogenesis, but the mechanisms underlying microglia dysfunction and toxicity remain to be fully elucidated. To investigate the effect of neurodegenerative disease-linked genes on the intrinsic properties of microglia, we studied microglia-like cells derived from human induced pluripotent stem cells (iPSCs), termed iMGs, harboring mutations in profilin-1 (PFN1) that are causative for amyotrophic lateral sclerosis (ALS). ALS-PFN1 iMGs exhibited lipid dysmetabolism and deficits in phagocytosis, a critical microglia function.

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Estimating structural connectivity from diffusion-weighted magnetic resonance imaging is a challenging task, partly due to the presence of false-positive connections and the misestimation of connection weights. Building on previous efforts, the MICCAI-CDMRI Diffusion-Simulated Connectivity (DiSCo) challenge was carried out to evaluate state-of-the-art connectivity methods using novel large-scale numerical phantoms. The diffusion signal for the phantoms was obtained from Monte Carlo simulations.

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Article Synopsis
  • Over 150,000 transcatheter edge-to-edge repair (TEER) procedures have been conducted globally, but the effect of mitral regurgitation (MR) causes on subsequent mitral valve (MV) surgery outcomes is not well understood.
  • A study analyzed data from the CUTTING-EDGE registry, focusing on patients who underwent MV surgery post-TEER, comparing outcomes based on whether their MR was classified as primary (PMR) or secondary (SMR).
  • Results indicated that SMR patients faced more complications, including higher mortality rates after surgery (38.3% vs 23.2% at 1 year), suggesting a need for more research to enhance patient outcomes in these cases.
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Background: Oxathiapiprolin is a novel fungicide and the first of the piperidinyl-thiazole-isoxazoline class to be discovered. This fungicide has been reported to have high activity against Plasmopara viticola, the grapevine downy mildew agent, and other plant-pathogenic oomycetes. In this study, the baseline sensitivity of Italian P.

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, the oomycete causing grapevine downy mildew, is one of the most important pathogens in viticulture. is a polycyclic pathogen, able to carry out numerous secondary cycles of infection during a single vegetative grapevine season, by producing asexual spores (zoospores) within sporangia. The extent of these infections is strongly influenced by both the quantity (density) and quality (infectivity) of the inoculum produced by the pathogen.

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Objective: To analyze Italian Cardiac Surgery experience during the pandemic of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) identifying risk factors for overall mortality according to coronavirus disease 2019 (COVID-19) status.

Methods: From February 20 to May 31, 2020, 1354 consecutive adult patients underwent cardiac surgery at 22 Italian Centers; 589 (43.5%), patients came from the red zone.

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The oligosaccharyltransferase of (PglB) catalyzes the glycosylation of asparagine in the consensus sequence N-X-S/T, where X is any residue except proline. Molecular dynamics simulations of PglB bound to two different substrates were used to characterize the differences in the structure and dynamics of the substrate-enzyme complexes that can explain the higher catalytic efficiency observed for substrates containing threonine at the +2 position rather than serine. We observed that a threonine-containing substrate is more tightly bound than a serine-containing substrate.

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