Deficiency of Glucocerebrosidase Activity beyond Gaucher Disease: PSAP and LIMP-2 Dysfunctions.

Autor: Pavan E; Regional Coordinator Centre for Rare Diseases, University Hospital of Udine, 33100 Udine, Italy., Peruzzo P; Regional Coordinator Centre for Rare Diseases, University Hospital of Udine, 33100 Udine, Italy., Cattarossi S; Regional Coordinator Centre for Rare Diseases, University Hospital of Udine, 33100 Udine, Italy., Bergamin N; Regional Coordinator Centre for Rare Diseases, University Hospital of Udine, 33100 Udine, Italy., Bordugo A; Regional Coordinator Centre for Rare Diseases, University Hospital of Udine, 33100 Udine, Italy., Sechi A; Regional Coordinator Centre for Rare Diseases, University Hospital of Udine, 33100 Udine, Italy., Scarpa M; Regional Coordinator Centre for Rare Diseases, University Hospital of Udine, 33100 Udine, Italy., Biasizzo J; Clinical Pathology Division, Department of Laboratory Medicine, University Hospital Friuli Centrale ASUFC, 33100 Udine, Italy., Colucci F; Department of Neuroscience and Rehabilitation, University of Ferrara, 44121 Ferrara, Italy., Dardis A; Regional Coordinator Centre for Rare Diseases, University Hospital of Udine, 33100 Udine, Italy.

Publikováno v: International journal of molecular sciences [Int J Mol Sci] 2024 Jun 16; Vol. 25 (12). Date of Electronic Publication: 2024 Jun 16.

Restored Collagen VI Microfilaments Network in the Extracellular Matrix of CRISPR-Edited Ullrich Congenital Muscular Dystrophy Fibroblasts.

Autor: Benati, Daniela¹ (AUTHOR) daniela.benati@unimore.it, Cattin, Eleonora¹ (AUTHOR) eleonora.cattin@unimore.it, Corradi, Federico¹ (AUTHOR) federico.corradi@unimore.it, Ferrari, Tommaso¹ (AUTHOR) tommaso.ferrari@unimore.it, Pedrazzoli, Eleonora¹ (AUTHOR) eleonora.pedrazzoli@fht.org, Patrizi, Clarissa¹ (AUTHOR) clarissa.patrizi2@gmail.com, Marchionni, Matteo¹ (AUTHOR) matteo.marchionni@studenti.unimore.it, Bertorelli, Roberto² (AUTHOR) roberto.bertorelli@unitn.it, De Sanctis, Veronica² (AUTHOR) veronica.desanctis@unitn.it, Merlini, Luciano³ (AUTHOR) mrllcn@unife.it, Ferlini, Alessandra^4,5 (AUTHOR) fla@unife.it, Sabatelli, Patrizia^6,7 (AUTHOR) sabatelli@area.bo.cnr.it, Gualandi, Francesca⁵ (AUTHOR), Recchia, Alessandra¹ (AUTHOR) alessandra.recchia@unimore.it

Publikováno v: Biomolecules (2218-273X). Nov2024, Vol. 14 Issue 11, p1412. 17p.

A Streamlined Approach to Rapidly Detect SARS-CoV-2 Infection Avoiding RNA Extraction: Workflow Validation.

Autor: Mio C; Department of Medicine (DAME), University of Udine, Udine, Italy., Cifù A; Department of Medicine (DAME), University of Udine, Udine, Italy., Marzinotto S; Department of Laboratory Medicine, University Teaching Hospital of Udine, Udine, Italy., Bergamin N; Department of Laboratory Medicine, University Teaching Hospital of Udine, Udine, Italy., Caldana C; Department of Laboratory Medicine, University Teaching Hospital of Udine, Udine, Italy., Cattarossi S; Department of Laboratory Medicine, University Teaching Hospital of Udine, Udine, Italy., Cmet S; Department of Laboratory Medicine, University Teaching Hospital of Udine, Udine, Italy., Cussigh A; Department of Laboratory Medicine, University Teaching Hospital of Udine, Udine, Italy., Martinella R; Department of Laboratory Medicine, University Teaching Hospital of Udine, Udine, Italy., Zucco J; Department of Laboratory Medicine, University Teaching Hospital of Udine, Udine, Italy., Verardo R; Consorzio Interuniversitario Biotecnologie (CIB), Trieste, Italy., Schneider C; Department of Medicine (DAME), University of Udine, Udine, Italy.; Consorzio Interuniversitario Biotecnologie (CIB), Trieste, Italy., Marcon B; Department of Laboratory Medicine, University Teaching Hospital of Udine, Udine, Italy., Zampieri S; Department of Laboratory Medicine, University Teaching Hospital of Udine, Udine, Italy., Pipan C; Department of Medicine (DAME), University of Udine, Udine, Italy.; Department of Laboratory Medicine, University Teaching Hospital of Udine, Udine, Italy., Curcio F; Department of Medicine (DAME), University of Udine, Udine, Italy.; Department of Laboratory Medicine, University Teaching Hospital of Udine, Udine, Italy.

Publikováno v: Disease markers [Dis Markers] 2020 Dec 09; Vol. 2020, pp. 8869424. Date of Electronic Publication: 2020 Dec 09 (Print Publication: 2020).

Ultrastructural defects of collagen VI filaments in an Ullrich syndrome patient with loss of the alpha3(VI) N10-N7 domains

Autor: Squarzoni S, Sabatelli P, Bergamin N, Guicheney P, Demir E, Merlini L, Lattanzi G, Ognibene A, Capanni C, Mattioli E, Columbaro M, Bonaldo P, MARALDI, NADIR

Publikováno v: Journal of cellular physiology
206:1 (2006): 160–166.
info:cnr-pdr/source/autori:S. SQUARZONI, P. SABATELLI, N. BERGAMIN, P. GUICHENEY, E. DEMIR, L. MERLINI, G. LATTANZI, A. OGNIBENE, C. CAPANNI, E. MATTIOLI, M. COLUMBARO, P. BONALDO, N.M. MARALDI,/titolo:Ultrastructural defects of collagen VI filaments in an Ullrich syndrome patient with loss of the alpha3(VI) N10-N7 domains,/doi:/rivista:Journal of cellular physiology (Print)/anno:2006/pagina_da:160/pagina_a:166/intervallo_pagine:160–166/volume:206:1

Ultrastructural alterations of collagen VI in cultured fibroblasts and reduced collagen VI immunostaining in the papillary dermis and endomysium were detected in a patient with a mild form of Ullrich congenital muscular dystrophy caused by a COL6A3 g

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::48fb842664f988b821c0e707fc2b5006
https://pubmed.ncbi.nlm.nih.gov/15965965

I TEATRI PERDUTI DI PADOVA

Autor: CATTIODORO, Silvia, AUTIZI, MB, LITARDI, A, MACCHIETTO, M, BOBISUT, D, CONTE, R, SCARPA, F, POSSAMAI VITA, A, BEDIN, N, BOSCARDIN, L, SCARSO, M, DE LAZZARI, E, BRUNETTA MENATO, M, CAMPAGNARO, L, PATRONE, P, GASTALDI, E, AVESANI, R, MATINO, U, GIORATO, S, ZANON, T, REBESCHINI, C, BERGAMIN, N, VEDOVATO, M, MONTI, G, TOSATO, R, MURATORI, G, GUMIERO SALOMONI, L, BELLINATI, A.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3658::666fa3773747d058a2fff8daf48651de
http://hdl.handle.net/10447/41466