Publications by authors named "M Feltri"
Purpose: Immunoglobulin G4-related disease (IgG4-RD) is a complex systemic fibroinflammatory condition with different clinical manifestations affecting multiple organ systems. Despite its rarity, the disease presents diagnostic and therapeutic challenges due to its mimicry of malignancies and other immune-mediated disorders. The 2019 American College of Rheumatology/European League Against Rheumatism Classification Criteria for IgG4-Related Disease is the current state of art to confirm the diagnosis of IgG4-RD even in the absence of histological analysis.
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- - Krabbe disease (Kd) is caused by a deficiency in the enzyme GALC, leading to the accumulation of the lipid galactosylceramide (GalCer), which produces a toxic lipid called psychosine that damages myelinating cells and leads to demyelination.
- - Research using induced pluripotent stem cells (iPSCs) from Kd patients revealed that Kd myelinating organoids exhibit early myelination defects without affecting other cell types, while the microglia in these organoids show changes in response to GalCer feeding.
- - The findings suggest that while Kd model organoids don't show classic lysosomal dysfunction, they provide an essential platform for studying the mechanisms behind demyel
During peripheral nervous system development, Schwann cells undergo Rac1-dependent cytoskeletal reorganization as they insert cytoplasmic extensions into axon bundles to radially sort, ensheath, and myelinate individual axons. However, our understanding of the direct effectors targeted by Rac1 is limited. Here, we demonstrate that striatin-3 and MOB4 are novel Rac1 interactors.
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- Intraductal carcinoma (IDC) is a rare salivary gland tumor, and this report focuses on a unique case of apocrine IDC found in a 60-year-old male's parotid gland that showed unusual sebaceous-like features.
- The tumor was characterized microscopically by a papillary growth pattern with apocrine cells and areas resembling sebaceous cells, alongside notable genetic mutations in the AKT1 and BRAF genes.
- Understanding the characteristics of this IDC variant is crucial, as it is a slow-growing disease, and more research is needed to determine its classification and potential connection to other salivary gland tumors.
Increasing cyclic GMP activates 26S proteasomes via phosphorylation by Protein Kinase G and stimulates the intracellular degradation of misfolded proteins. Therefore, agents that raise cGMP may be useful therapeutics against neurodegenerative diseases and other diseases in which protein degradation is reduced and misfolded proteins accumulate, including Charcot Marie Tooth 1A and 1B peripheral neuropathies, for which there are no treatments. Here we increased cGMP in the S63del mouse model of CMT1B by treating for three weeks with either the phosphodiesterase 5 inhibitor tadalafil, or the brain-penetrant soluble guanylyl cyclase stimulator CYR119.
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