Publications by authors named "Ilaria Fanelli"

Article Synopsis
  • GM3 synthase deficiency (GM3SD) is linked to mutations in the ST3GAL5 gene, leading to severe symptoms like irritability, feeding issues, seizures, and hearing loss in infants.
  • Researchers created and studied a human induced pluripotent stem cell (hiPSC) line from a 13-year-old girl with GM3SD who had two new genetic variants in the ST3GAL5 gene.
  • The hiPSC line possesses a normal chromosome structure, expresses markers indicating pluripotency, and can develop into the three primary cell types in the body.
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Congenital Disorders of Glycosylation (CDG) are rare inherited metabolic diseases caused by genetic defects in the glycosylation of proteins and lipids. In this study, we describe the generation and characterization of one human induced pluripotent stem cell (hiPSC) line from a 15-year-old male patient with CDG. The patient carried three variants, one (c.

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Two isoforms of the glutamate decarboxylase (GAD) enzyme exist, GAD65 and GAD67, which are associated with type 1 diabetes (T1D) and stiff-person syndrome (SPS), respectively. Interestingly, it has been reported that T1D patients seldom develop SPS, whereas patients with SPS occasionally develop T1D. In addition, coxsackievirus B4 (CVB4) has previously been proposed to be involved in the onset of T1D through molecular mimicry.

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Rheumatoid arthritis (RA) is a chronic disease which causes joint inflammation and, ultimately, erosion of the underlying bone. Diagnosis of RA is based on the presence of biomarkers, such as anti-citrullinated protein antibodies (ACPA) and rheumatoid factors, along with clinical symptoms. Much evidence points to a link between the Epstein-Barr virus and RA.

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Rheumatoid arthritis (RA) is an autoimmune disease affecting approximately 1-2% of the world population. In addition to the first discovered serologic markers for RA, the rheumatoid factors (RFs), anti-citrullinated protein antibodies (ACPAs) are even more specific for the disease compared to RFs and are found in 70-80% of RA patient sera. RA etiopathogenesis still needs to be elucidated, as different factors are proposed to be involved, such as Epstein-Barr virus infection.

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