Zobrazeno 1 - 10
of 30
pro vyhledávání: '"Enrico, Pierantozzi"'
Autor:
Daniela Rossi, Enrico Pierantozzi, David Osamwonuyi Amadsun, Sara Buonocore, Egidio Maria Rubino, Vincenzo Sorrentino
Publikováno v:
Biomolecules, Vol 12, Iss 4, p 488 (2022)
The sarcoplasmic reticulum of skeletal muscle cells is a highly ordered structure consisting of an intricate network of tubules and cisternae specialized for regulating Ca2+ homeostasis in the context of muscle contraction. The sarcoplasmic reticulum
Externí odkaz:
https://doaj.org/article/103d2357cb5d477caea018d2d1f82afc
Autor:
Enrico Pierantozzi, Péter Szentesi, Cecilia Paolini, Beatrix Dienes, János Fodor, Tamás Oláh, Barbara Colombini, Dilson E. Rassier, Egidio Maria Rubino, Stephan Lange, Daniela Rossi, László Csernoch, Maria Angela Bagni, Carlo Reggiani, Vincenzo Sorrentino
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 3, p 1319 (2022)
Obscurin is a giant sarcomeric protein expressed in striated muscles known to establish several interactions with other proteins of the sarcomere, but also with proteins of the sarcoplasmic reticulum and costameres. Here, we report experiments aiming
Externí odkaz:
https://doaj.org/article/f90b0f4dbf77435398a6de274560e28c
Autor:
Pierpaolo Iodice, Simona Boncompagni, Laura Pietrangelo, Lucia Galli, Enrico Pierantozzi, Daniela Rossi, Aurora Fusella, Massimo Caulo, Helmut Kern, Vincenzo Sorrentino, Feliciano Protasi
Publikováno v:
Frontiers in Neurology, Vol 10 (2019)
Central Core Disease (CCD) is a congenital myopathy characterized by presence of amorphous central areas (or cores) lacking glycolytic/oxidative enzymes and mitochondria in skeletal muscle fibers. Most CCD families are linked to mutations in ryanodin
Externí odkaz:
https://doaj.org/article/ef065f9c0bde4efc883278a1c4152a07
Publikováno v:
Exp Biol Med (Maywood)
Autosomal dominant mutations in sarcomere proteins such as the cardiac troponin T ( TNNT2) are the main genetic causes of human hypertrophic cardiomyopathy and dilated cardiomyopathy. Allele-specific silencing by RNA interference (ASP-RNAi) holds pro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c668c1704284da27cc04ca9f0089d42b
https://doi.org/10.1177/15353702211072453
https://doi.org/10.1177/15353702211072453
Autor:
Daniela Rossi, Johanna Palmio, Anni Evilä, Lucia Galli, Virginia Barone, Tracy A Caldwell, Rachel A Policke, Esraa Aldkheil, Christopher E Berndsen, Nathan T Wright, Edoardo Malfatti, Guy Brochier, Enrico Pierantozzi, Albena Jordanova, Velina Guergueltcheva, Norma Beatriz Romero, Peter Hackman, Bruno Eymard, Bjarne Udd, Vincenzo Sorrentino
Publikováno v:
PLoS ONE, Vol 12, Iss 10, p e0186642 (2017)
A novel FLNC c.5161delG (p.Gly1722ValfsTer61) mutation was identified in two members of a French family affected by distal myopathy and in one healthy relative. This FLNC c.5161delG mutation is one nucleotide away from a previously reported FLNC muta
Externí odkaz:
https://doaj.org/article/4f6a22f949c9438a89e5b809cc20de57
Autor:
Enrico Pierantozzi, Péter Szentesi, Dána Al-Gaadi, Tamás Oláh, Beatrix Dienes, Mónika Sztretye, Daniela Rossi, Vincenzo Sorrentino, László Csernoch
Publikováno v:
International Journal of Molecular Sciences, Vol 20, Iss 13, p 3361 (2019)
Small Ankyrins (sAnk1) are muscle-specific isoforms generated by the Ank1 gene that participate in the organization of the sarcoplasmic reticulum (SR) of striated muscles. Accordingly, the volume of SR tubules localized around the myofibrils is stron
Externí odkaz:
https://doaj.org/article/e46c398cb8b84ad5921e99c1f314eb79
Autor:
null Gaetano Nicola Alfio Vattemi, null Daniela Rossi, null Lucia Galli, null Maria Rosaria Catallo, null Elia Pancheri, null Giulia Marchetto, null Barbara Cisterna, null Manuela Malatesta, null Enrico Pierantozzi, null Paola Tonin, null Vincenzo Sorrentino
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bdf5a0c24046c7391d3c234a6619c9a5
https://doi.org/10.1111/ejn.15728/v3/response1
https://doi.org/10.1111/ejn.15728/v3/response1
Autor:
Gaetano Nicola Alfio Vattemi, Daniela Rossi, Lucia Galli, Maria Rosaria Catallo, Elia Pancheri, Giulia Marchetto, Barbara Cisterna, Manuela Malatesta, Enrico Pierantozzi, Paola Tonin, Vincenzo Sorrentino
Two likely causative mutations in the RYR1 gene were identified in two patients with myopathy with tubular aggregates, but no evidence of cores or core-like pathology on muscle biopsy. These patients were clinically evaluated and underwent routine la
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e133166a0888b6a422e033001292402
http://hdl.handle.net/11365/1215737
http://hdl.handle.net/11365/1215737
In skeletal muscle, Ca2+ necessary for muscle contraction is stored and released from the sarcoplasmic reticulum (SR), a specialized form of endoplasmic reticulum through the mechanism known as excitation–contraction (E-C) coupling. Following activ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::62a2351168762a4f5a53883984b44b59
http://hdl.handle.net/11365/1215736
http://hdl.handle.net/11365/1215736
Autor:
Enrico, Pierantozzi, Péter, Szentesi, Cecilia, Paolini, Beatrix, Dienes, János, Fodor, Tamás, Oláh, Barbara, Colombini, Dilson E, Rassier, Egidio Maria, Rubino, Stephan, Lange, Daniela, Rossi, László, Csernoch, Maria Angela, Bagni, Carlo, Reggiani, Vincenzo, Sorrentino
Publikováno v:
International journal of molecular sciences. 23(3)
Obscurin is a giant sarcomeric protein expressed in striated muscles known to establish several interactions with other proteins of the sarcomere, but also with proteins of the sarcoplasmic reticulum and costameres. Here, we report experiments aiming
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::cccf4f32f9eb16ac48bc9d403ebeb03e
https://pubmed.ncbi.nlm.nih.gov/35163243
https://pubmed.ncbi.nlm.nih.gov/35163243