Publications by authors named "Marco Nevyjel"
Niemann-Pick C disease (NPC) is an autosomal recessive neurodegenerative disorder caused by the abnormal function of NPC1 or NPC2 proteins, leading to an accumulation of unesterified cholesterol and glycosphingolipids (GSLs) in the lysosomes. The mechanisms underlying the pathophysiology in NPC disease are not clear. Oxidative damage is implicated in the pathophysiology of different neurological disorders and the effect of GSL accumulation on the intracellular redox state has been documented.
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- Mevalonate kinase deficiency is a rare genetic disorder that disrupts the production of certain lipids and is marked by severe inflammatory symptoms and potential developmental delays.
- Symptoms can be complicated and might resemble chronic inflammatory diseases, making diagnosis challenging and requiring multiple types of tests.
- There is no standardized treatment, but medications like anakinra (an IL-1 receptor antagonist) have shown promise in managing severe cases, including one with nephritis, providing new insights into treatment options.
Fabry disease is an X-linked lysosomal storage disorder caused by the deficiency of alpha-galactosidase A that results in the accumulation of neutral sphingolipids. We report a novel point mutation in exon 6, Q279K, carried by an asymptomatic child with a family history of classic Fabry disease. Moreover, we comparatively study the in vitro expression and enzyme activity of Q279K and three other already described mutants in glutamine 279.
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