Publications by authors named "G C Fortunato"

Familial hypercholesterolemia (FH) is a genetic disease, usually with onset during childhood, characterized by elevated blood LDL cholesterol levels and potentially associated with severe cardiovascular complications. Concerning mutated genes in FH, such as , a small subset of FH patients presents a homozygous genotype, resulting in homozygous FH (HoFH) disease with a generally aggressive phenotype. Besides statins, ezetimibe and PCSK9 inhibitors, lomitapide (an anti-ApoB therapy) was also approved in 2012-2013 as an adjunctive treatment for HoFH.

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Metabotropic glutamate (mGlu) receptors are candidate drug targets for therapeutic intervention in Parkinson's disease (PD). Here we focused on mGlu3, a receptor subtype involved in synaptic regulation and neuroinflammation. mGlu3 mice showed an enhanced nigro-striatal damage and microglial activation in response to 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP).

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Integrating spatial and temporal information is essential for our sensory experience. While psychophysical evidence suggests spatial dependencies in duration perception, few studies have directly tested the neural link between temporal and spatial processing. Using ultra-high-field functional MRI and neuronal-based modeling, we investigated how and where the processing and the representation of a visual stimulus duration is linked to that of its spatial location.

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Article Synopsis
  • The study investigates the lipid and metabolite profiles in Parkinson's disease (PD) patients to uncover new pathways and potential biomarkers for early detection and treatment.* -
  • It highlights significant differences in lipid profiles among three groups (No L-Dopa, L-Dopa, and DBS) with findings that show increases in specific lipid species, particularly with deep brain stimulation (DBS) treatment.* -
  • The research also reveals dysregulation in amino acid metabolism, especially L-glutamic acid, suggesting that DBS may positively influence glutamate levels, offering insights for future PD diagnosis and therapies.*
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Background: The antisense oligonucleotide against APOC3 mRNA volanesorsen was recently introduced to treat Familial Chylomicronemia Syndrome (FCS). Cases of decreased platelet count are reported among patients treated with volanesorsen. The aim of the study was to evaluate platelet function and thrombin generation (TG) assessment in FCS patients receiving volanesorsen.

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