Publications by authors named "L Marziali"
Article Synopsis
- - 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
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.
View Article and Find Full Text PDFKrabbe disease (Kd) is a lysosomal storage disorder (LSD) caused by the deficiency of the lysosomal galactosylceramidase (GALC) which cleaves the myelin enriched lipid galactosylceramide (GalCer). Accumulated GalCer is catabolized into the cytotoxic lipid psychosine that causes myelinating cells death and demyelination which recruits microglia/macrophages that fail to digest myelin debris and become globoid cells. Here, to understand the pathological mechanisms of Kd, we used induced pluripotent stem cells (iPSCs) from Kd patients to produce myelinating organoids and microglia.
View Article and Find Full Text PDFFactors responsible for species distribution of benthic macroinvertebrates, including responses at different spatial scales, have been previously investigated. The aim of the present research was to review the most relevant factors explaining chironomid species distribution focusing on factors operating at different spatial scales, such as latitude, longitude, altitude, substrate, salinity, water temperature, current velocity, conductivity, acidity, dissolved oxygen, nutrient content etc. acting at regional levels and at a large or small water basin level.
View Article and Find Full Text PDFArticle Synopsis
- The Toce River in Northern Italy has legacy contamination from DDT, mercury, and arsenic due to an industrial plant active from 1915 to 1996, with sediment samples collected in 2014 and 2019 to assess the impact on local chironomid species.
- A total of 32 chironomid taxa were identified, with sediment concentrations of DDT, mercury, and arsenic reaching levels that could be toxic to benthic invertebrates.
- Canonical Correspondence Analysis showed a seasonal and upstream-downstream gradient in species response to contamination, indicating that while most species were tolerant to the pollutants, a few exhibited sensitivity to specific contaminants.