Výsledky vyhledávání - "Sante Princiero Berlingerio"

Akademický článek

Evaluation of the efficacy of cystinosin supplementation through CTNS mRNA delivery in experimental models for cystinosis

Autor: Tjessa Bondue, Sante Princiero Berlingerio, Florian Siegerist, Elena Sendino-Garví, Maximilian Schindler, Hans Jacobus Baelde, Sara Cairoli, Bianca Maria Goffredo, Fanny Oliveira Arcolino, Jürgen Dieker, Manoe Jacoba Janssen, Nicole Endlich, Roland Brock, Rik Gijsbers, Lambertus van den Heuvel, Elena Levtchenko

Publikováno v: Scientific Reports, Vol 13, Iss 1, Pp 1-14 (2023)

Abstract Messenger RNA (mRNA) therapies are emerging in different disease areas, but have not yet reached the kidney field. Our aim was to study the feasibility to treat the genetic defect in cystinosis using synthetic mRNA in cell models and ctns �

Externí odkaz: https://doaj.org/article/e4841b6ebf164c40bbddf71bdbfa5308

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Akademický článek

Therapeutic concentrations of calcineurin inhibitors do not deregulate glutathione redox balance in human renal proximal tubule cells.

Autor: Yasaman Ramazani, Noël Knops, Sante Princiero Berlingerio, Oyindamola Christiana Adebayo, Celien Lismont, Dirk J Kuypers, Elena Levtchenko, Lambert P van den Heuvel, Marc Fransen

Publikováno v: PLoS ONE, Vol 16, Iss 4, p e0250996 (2021)

The calcineurin inhibitors (CNI) cyclosporine A and tacrolimus comprise the basis of immunosuppressive regimes in all solid organ transplantation. However, long-term or high exposure to CNI leads to histological and functional renal damage (CNI-assoc

Externí odkaz: https://doaj.org/article/18329ce096de4722ad0f2457df0856c3

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Akademický článek

Urine-Derived Kidney Progenitor Cells in Cystinosis

Autor: Koenraad Veys, Sante Princiero Berlingerio, Dries David, Tjessa Bondue, Katharina Held, Ahmed Reda, Martijn van den Broek, Koen Theunis, Mirian Janssen, Elisabeth Cornelissen, Joris Vriens, Francesca Diomedi-Camassei, Rik Gijsbers, Lambertus van den Heuvel, Fanny O. Arcolino, Elena Levtchenko

Publikováno v: Cells, Vol 11, Iss 7, p 1245 (2022)

Nephropathic cystinosis is an inherited lysosomal storage disorder caused by pathogenic variants in the cystinosin (CTNS) gene and is characterized by the excessive shedding of proximal tubular epithelial cells (PTECs) and podocytes into urine, devel

Externí odkaz: https://doaj.org/article/f9b949bccec54990b08489d83fa4c840

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Akademický článek

AQP2 Abundance is Regulated by the E3-Ligase CHIP Via HSP70

Autor: Mariangela Centrone, Marianna Ranieri, Annarita Di Di Mise, Sante Princiero Berlingerio, Annamaria Russo, Peter M.T. Deen, Olivier Staub, Giovanna Valenti, Grazia Tamma

Publikováno v: Cellular Physiology and Biochemistry, Vol 44, Iss 2, Pp 515-531 (2017)

Background/Aims: AQP2 expression is mainly controlled by vasopressin-dependent changes in protein abundance which is in turn regulated by AQP2 ubiquitylation and degradation, however the proteins involved in these processes are largely unknown. Here,

Externí odkaz: https://doaj.org/article/5055150a96a84f54be1c54bc1fe66d8e

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Akademický článek

Genetic Renal Diseases: The Emerging Role of Zebrafish Models

Autor: Mohamed A. Elmonem, Sante Princiero Berlingerio, Lambertus P. van den Heuvel, Peter A. de Witte, Martin Lowe, Elena N. Levtchenko

Publikováno v: Cells, Vol 7, Iss 9, p 130 (2018)

The structural and functional similarity of the larval zebrafish pronephros to the human nephron, together with the recent development of easier and more precise techniques to manipulate the zebrafish genome have motivated many researchers to model h

Externí odkaz: https://doaj.org/article/d2f3efdc9e5443b5b0e5d74cbdd61b0f

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The Pitfall of White Blood Cell Cystine Measurement to Diagnose Juvenile Cystinosis

Autor: Tjessa Bondue, Anas Kouraich, Sante Princiero Berlingerio, Koenraad Veys, Sandrine Marie, Khaled O. Alsaad, Essam Al-Sabban, Elena Levtchenko, Lambertus van den Heuvel

Publikováno v: International Journal of Molecular Sciences, 24
International Journal of Molecular Sciences, 24, 2

Cystinosis is an autosomal recessive lysosomal storage disease, caused by mutations in the CTNS gene, resulting in multi-organ cystine accumulation. Three forms of cystinosis are distinguished: infantile and juvenile nephropathic cystinosis affecting

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::363e5151229bb6fa9b70ac762137f8d1
https://doi.org/10.3390/ijms24021253

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Renal and Extra Renal Manifestations in Adult Zebrafish Model of Cystinosis

Autor: Junling He, Tomas Norton, Lambertus P. van den Heuvel, Sante Princiero Berlingerio, Sara Cairoli, Pieter Baatsen, Lies De Groef, Elena Levtchenko, Harold Taeter, Hans J. Baelde, Bianca Maria Goffredo, Peter de Witte

Publikováno v: International Journal of Molecular Sciences, 22
International Journal of Molecular Sciences, Vol 22, Iss 9398, p 9398 (2021)
International Journal of Molecular Sciences, 22(17). MDPI
International Journal of Molecular Sciences
Volume 22
Issue 17
International Journal of Molecular Sciences, 22, 17

Cystinosis is a rare, incurable, autosomal recessive disease caused by mutations in the CTNS gene. This gene encodes the lysosomal cystine transporter cystinosin, leading to lysosomal cystine accumulation in all cells of the body, with kidneys being

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dce3e61c3ed72d5cb062275052596451
https://lirias.kuleuven.be/handle/123456789/682049

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Molecular Basis of Cystinosis: Geographic Distribution, Functional Consequences of Mutations in the CTNS Gene, and Potential for Repair

Autor: Sante Princiero Berlingerio, Dries David, Fanny Oliveira Arcolino, Bert van den Heuvel, Mohamed A. Elmonem, Neveen A. Soliman, Elena Levtchenko, Rik Gijsbers

Publikováno v: Nephron. 141:133-146

Mutations in the CTNS gene encoding the lysosomal membrane cystine transporter cystinosin are the cause of cystinosis, an autosomal recessive lysosomal storage disease. More than 140 CTNS mutations have been reported worldwide. Recent studies have di

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::1ed7d4e658b48ce648f910101ed945ec
https://doi.org/10.1159/000495270

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Therapeutic concentrations of calcineurin inhibitors do not deregulate glutathione redox balance in human renal proximal tubule cells

Autor: Sante Princiero Berlingerio, Elena Levtchenko, Yasaman Ramazani, Celien Lismont, Marc Fransen, Oyindamola C Adebayo, Dirk J Kuypers, Noël Knops, Lambert P. van den Heuvel

Publikováno v: PLoS ONE
PLoS One, 16, 4
PLoS One, 16
PLoS ONE, Vol 16, Iss 4, p e0250996 (2021)

Contains fulltext : 234077.pdf (Publisher’s version ) (Open Access) The calcineurin inhibitors (CNI) cyclosporine A and tacrolimus comprise the basis of immunosuppressive regimes in all solid organ transplantation. However, long-term or high exposu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::676276e8093c90e1edc999e556f1579b
https://doi.org/10.1371/journal.pone.0250996

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Molecular Basis of Cystinosis: Geographic Distribution, Functional Consequences of Mutations in the CTNS Gene, and Potential for Repair

Autor: Dries, David, Sante, Princiero Berlingerio, Mohamed A, Elmonem, Fanny, Oliveira Arcolino, Neveen, Soliman, Bert, van den Heuvel, Rik, Gijsbers, Elena, Levtchenko

Publikováno v: Nephron. 141(2)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::bfda5dc29202c68ce85a24bdd26b6238
https://pubmed.ncbi.nlm.nih.gov/30554218

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