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Your search keyword '"Simula, Elena Rita"' showing total 20 results
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20 results on '"Simula, Elena Rita"'

2. TDP-43 proteinopathy in ALS is triggered by loss of ASRGL1 and associated with HML-2 expression

Author

Garcia-Montojo, Marta, Fathi, Saeed, Rastegar, Cyrus, Simula, Elena Rita, Doucet-O’Hare, Tara, Cheng, Y. H. Hank, Abrams, Rachel P. M., Pasternack, Nicholas, Malik, Nasir, Bachani, Muzna, Disanza, Brianna, Maric, Dragan, Lee, Myoung-Hwa, Wang, Herui, Santamaria, Ulisses, Li, Wenxue, Sampson, Kevon, Lorenzo, Juan Ramiro, Sanchez, Ignacio E., Mezghrani, Alexandre, Li, Yan, Sechi, Leonardo Antonio, Pineda, Sebastian, Heiman, Myriam, Kellis, Manolis, Steiner, Joseph, and Nath, Avindra

Published
2024
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7. Antibody Response to HERV-K and HERV-W Envelope Epitopes in Patients with Myasthenia Gravis.

Author

Simula, Elena Rita, Zarbo, Ignazio Roberto, Arru, Giannina, Sechi, Elia, Meloni, Rossella, Deiana, Giovanni Andrea, Solla, Paolo, and Sechi, Leonardo Antonio

Subjects
*MYASTHENIA gravis, *AUTOANTIBODIES, *ANTIBODY formation, *HUMAN endogenous retroviruses, *EPITOPES, *MUSCLE weakness, *ENZYME-linked immunosorbent assay
Abstract

Myasthenia gravis is an antibody-mediated autoimmune neurological disorder characterized by impaired neuromuscular junction transmission, resulting in muscle weakness. Recently, the involvement of Human Endogenous Retroviruses (HERVs) in the pathophysiology of different immune-mediated and neurodegenerative diseases, such as multiple sclerosis, has been demonstrated. We aimed to investigate potential immune system involvement related to humoral responses targeting specific epitopes of HERV-K and HERV-W envelope proteins in myasthenia gravis. Myasthenia gravis patients were recruited in the Neurology Unit, while healthy controls were selected from the Blood Transfusion Center, both affiliated with AOU Sassari. Highly immunogenic antigens of HERV-K and HERV-W envelope proteins were identified using the Immune Epitope Database (IEDB) online tool. These epitopes were utilized in enzyme-linked immunosorbent assays (ELISA) to detect autoantibodies in serum directed against these sequences. The study involved 39 Healthy Donors and 47 MG patients, further categorized into subgroups based on the presence of autoantibodies: MG-AchR Ab+ (n = 17), MG-MuSK Ab+ (n = 7), double seronegative patients (MG-DSN, n = 18), MG-LRP4 Ab + (n = 4), and one patient with no antibodies data (n = 1). Our findings revealed high levels of autoantibodies in myasthenia gravis patients directed against the HERV-K-env-su(19–37), HERV-K-env-su(109–126), HERV-K-env-su(164–186), HERV-W-env(93–108), HERV-W-env(129–14), and HERV-W-env(248–262) epitopes. Notably, these results remained highly significant even when patients were subdivided into MG-AchR Ab+ and MG-DSN subgroups. Correlation analysis further revealed significant positive associations between the antibody levels against HERV-K and HERV-W families in patients, suggesting a synergistic action of the two HERVs in the pathology context since this correlation is absent in the control group. This study marks the first identification of a specific humoral response directed against defined epitopes of HERV-K and HERV-W envelope proteins in myasthenia gravis patients. These findings lay the foundation for future investigations aimed at elucidating the molecular mechanisms driving this immune response. The detection of these autoantibodies suggests the potential for novel biomarkers, especially within the MG-DSN patient subgroup, addressing the need for new biomarkers in this population. [ABSTRACT FROM AUTHOR]

Published
2024
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8. A Multigene-Panel Study Identifies Single Nucleotide Polymorphisms Associated with Prostate Cancer Risk

Author

Manca, Maria Antonietta, primary, Scarpa, Fabio, additional, Cossu, Davide, additional, Simula, Elena Rita, additional, Sanna, Daria, additional, Ruberto, Stefano, additional, Noli, Marta, additional, Ashraf, Hajra, additional, Solinas, Tatiana, additional, Madonia, Massimo, additional, Cusano, Roberto, additional, and Sechi, Leonardo A., additional

Published
2023
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13. Antibody Response to HML‐2 May Be Protective in Amyotrophic Lateral Sclerosis

Author

Garcia‐Montojo, Marta, primary, Simula, Elena Rita, additional, Fathi, Saeed, additional, McMahan, Cynthia, additional, Ghosal, Anubrata, additional, Berry, James D., additional, Cudkowicz, Merit, additional, Elkahloun, Abdel, additional, Johnson, Kory, additional, Norato, Gina, additional, Jensen, Peter, additional, James, Tony, additional, Sechi, Leonardo A., additional, and Nath, Avindra, additional

Published
2022
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15. Autoantibodies against Proinsulin, Human Endogenous Retrovirus W (HERV-W) and Mycobacterium avium Subspecies Paratuberculosis (MAP) Slowly Decrease Years after T1DM Diagnosis

Author

Noli, Marta, primary, Meloni, Gianfranco, additional, Simula, Elena Rita, additional, Manca, Maria Antonietta, additional, Jasemi, Seyedesomaye, additional, Ruberto, Stefano, additional, Cossu, Davide, additional, Palermo, Mario, additional, and Sechi, Leonardo A., additional

Published
2022
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19. Autoantibodies against Proinsulin, Human Endogenous Retrovirus W(HERV-W) and Mycobacterium avium Subspecies Paratuberculosis (MAP) Slowly Decrease Years after T1DM Diagnosis.

Author

Noli, Marta, Meloni, Gianfranco, Simula, Elena Rita, Manca, Maria Antonietta, Jasemi, Seyedesomaye, Ruberto, Stefano, Cossu, Davide, Palermo, Mario, and Sechi, Leonardo A.

Subjects
IMMUNOGLOBULINS, PROINSULIN, RETROVIRUS diseases, MYCOBACTERIUM, INSULIN
Abstract

Previous studies have highlighted the potential role of Mycobacterium avium subspecies paratuberculosis (MAP) and human endogenous retrovirus W (HERV-W) in the pathogenesis of type 1 diabetes (T1DM) among Sardinian subjects. To better understand how antibody responses evolve during disease progression, a serological evaluation of IgG antibodies was performed in Sardinian children with T1DM collected at different time-points following the onset of the disease. It is known that anti-PI and anti-insulin (IAA) autoantibodies are the first to appear before the clinical onset of T1DM. In order to investigate the humoral responses, 69 children with T1DM were enrolled in the study, including 25 with new onset, 25 with T1DM at 1-5 years since diagnosis and 19 with T1DM at 6-12 years since diagnosis. Serum samples were tested for the presence of antibodies (Abs) against PI46-61, three MAP epitopes (including MAP 2404c, which has a homologous sequence with PI) and two HERV-W-derived epitopes via indirect enzyme-linked immunosorbent assay (ELISA). The data obtained from the analysis showed significantly higher IgG responses against all peptides detected in the new onset group compared to longer suffering (1-5 and 6-12 years) T1DM patients, also showing a robust correlation between the proinsulin autoantibody and anti-MAP/HERV antibodies, characterized by a progressive decline the first year after onset. Taken together, these findings support the hypothesis that MAP and HERV could act as risk factors for T1DM, suggesting that they may serve as potential biomarkers of disease progression in early-stage T1DM. [ABSTRACT FROM AUTHOR]

Published
2022
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