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Akademický článek

Pantothenate kinase-2 (Pank2) silencing causes cell growth reduction, cell-specific ferroportin upregulation and iron deregulation

Autor: Maura Poli, Manuela Derosas, Sara Luscieti, Patrizia Cavadini, Alessandro Campanella, Rosanna Verardi, Dario Finazzi, Paolo Arosio

Publikováno v: Neurobiology of Disease, Vol 39, Iss 2, Pp 204-210 (2010)

Pantothenate kinase 2 (Pank2) is a mitochondrial enzyme that catalyses the first regulatory step of Coenzyme A synthesis and that is responsible for a genetic movement disorder named Pank-associated neurodegeneration (PKAN). This is characterized by

Externí odkaz: https://doaj.org/article/3169da86e0de4f298b934e4146064b85

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Akademický článek

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Akademický článek

Transferrin receptor 2 and HFE regulate furin expression via mitogen-activated protein kinase/extracellular signal-regulated kinase (MAPK/Erk) signaling. Implications for transferrin-dependent hepcidin regulation

Autor: Maura Poli, Sara Luscieti, Valentina Gandini, Federica Maccarinelli, Dario Finazzi, Laura Silvestri, Antonella Roetto, Paolo Arosio

Publikováno v: Haematologica, Vol 95, Iss 11 (2010)

Background Impaired regulation of hepcidin in response to iron is the cause of genetic hemochromatosis associated with defects of HFE and transferrin receptor 2. However, the role of these proteins in the regulation of hepcidin expression is unclear.

Externí odkaz: https://doaj.org/article/159b6441c5b042f780c603053f520092

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Akademický článek

Novel mutations in the ferritin-L iron-responsive element that only mildly impair IRP binding cause hereditary hyperferritinaemia cataract syndrome

Autor: Luscieti Sara, Tolle Gabriele, Aranda Jessica, Campos Carmen Benet, Risse Frank, Morán Érica, Muckenthaler Martina U, Sánchez Mayka

Publikováno v: Orphanet Journal of Rare Diseases, Vol 8, Iss 1, p 30 (2013)

Abstract Background Hereditary Hyperferritinaemia Cataract Syndrome (HHCS) is a rare autosomal dominant disease characterized by increased serum ferritin levels and early onset of bilateral cataract. The disease is caused by mutations in the Iron-Res

Externí odkaz: https://doaj.org/article/8e24effedced45018cb072f6935ea4e4

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Akademický článek

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Akademický článek

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[Localized fibrous tumor of the pleura. 2 case reports and differential diagnoses]

Autor: F, Degonda, L, Gürke, E, Pedrinis, P, Luscieti, G M, Solari, S, Martinoli

Publikováno v: Helvetica chirurgica acta. 60(6)

The localized fibrous tumors of the pleura are rare neoplasms, also known as "benign pleural fibromas" or "localized mesotheliomas", but those names are inaccurate. The tumors are composed of undifferentiated mesenchymal cells, intermediate and diffe

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::a6a5680e8293ec2a8aabe3e148f5b655
https://pubmed.ncbi.nlm.nih.gov/7533149

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[Sacral chordoma: a consideration in low back pain]

Autor: A, Radaelli, E, Massera, G, Casanova, L, Gürke, F, Levi, P, Luscieti, S, Martinoli

Publikováno v: Helvetica chirurgica acta. 60(6)

We present the case of a sacral chordoma (S3-S5). Its diagnostic problems as well as its pathological properties and the epidemiologic situation are discussed. The therapy and the surgical procedure are outlined.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::5d8caf3c036c519d95d72071bbaf8e42
https://pubmed.ncbi.nlm.nih.gov/7876012

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[Blastoma of the lung--a rare malignancy. Case report]

Autor: H, Büchel, R, Casella, W, Müller, G, Martinelli, F, Cavalli, P, Luscieti

Publikováno v: Helvetica chirurgica acta. 60(1-2)

Pulmonary blastoma--so called because of its histological resemblance to fetal lung--is a rare malignant neoplasm, which tends to relapse locally and metastasize mainly in the first years, has a poor 5-year prognosis, and shows a potential radio-chem

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::f8bf85303834cd1f089be0ea87f35571
https://pubmed.ncbi.nlm.nih.gov/8226058

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