Zobrazeno 1 - 10
of 187
pro vyhledávání: '"Patrizia, Sabatelli"'
Autor:
Daniela Benati, Eleonora Cattin, Federico Corradi, Tommaso Ferrari, Eleonora Pedrazzoli, Clarissa Patrizi, Matteo Marchionni, Roberto Bertorelli, Veronica De Sanctis, Luciano Merlini, Alessandra Ferlini, Patrizia Sabatelli, Francesca Gualandi, Alessandra Recchia
Publikováno v:
Biomolecules, Vol 14, Iss 11, p 1412 (2024)
Collagen VI is an essential component of the extracellular matrix (ECM) composed by α1, α2 and α3 chains and encoded by COL6A1, COL6A2 and COL6A3 genes. Dominant negative pathogenic variants in COL6A genes result in defects in collagen VI protein
Externí odkaz:
https://doaj.org/article/c15d1ef4b5674ce0b4381b2d226368c3
Autor:
Nastasia Cardone, Melissa Moula, Rianne J. Baelde, Ariane Biquand, Marcello Villanova, Corinne Metay, Chiara Fiorillo, Serena Baratto, Luciano Merlini, Patrizia Sabatelli, Norma B. Romero, Frederic Relaix, François Jérôme Authier, Valentina Taglietti, Marco Savarese, Josine de Winter, Coen Ottenheijm, Isabelle Richard, Edoardo Malfatti
Publikováno v:
Acta Neuropathologica Communications, Vol 11, Iss 1, Pp 1-10 (2023)
Abstract Congenital titinopathies are an emerging group of a potentially severe form of congenital myopathies caused by biallelic mutations in titin, encoding the largest existing human protein involved in the formation and stability of sarcomeres. I
Externí odkaz:
https://doaj.org/article/5fea3216d6b44beab3e6bcbaf02277ca
Autor:
Vittoria Cenni, Patrizia Sabatelli, Alberto Di Martino, Luciano Merlini, Manuela Antoniel, Stefano Squarzoni, Simona Neri, Spartaco Santi, Samuele Metti, Paolo Bonaldo, Cesare Faldini
Publikováno v:
Cells, Vol 13, Iss 5, p 378 (2024)
The pericellular matrix (PCM) is a specialized extracellular matrix that surrounds cells. Interactions with the PCM enable the cells to sense and respond to mechanical signals, triggering a proper adaptive response. Collagen VI is a component of musc
Externí odkaz:
https://doaj.org/article/c453625c018140808afd9f71a0119467
Autor:
Vittoria Cenni, Camilla Evangelisti, Spartaco Santi, Patrizia Sabatelli, Simona Neri, Marco Cavallo, Giovanna Lattanzi, Elisabetta Mattioli
Publikováno v:
Cells, Vol 13, Iss 2, p 162 (2024)
In muscle cells subjected to mechanical stimulation, LINC complex and cytoskeletal proteins are basic to preserve cellular architecture and maintain nuclei orientation and positioning. In this context, the role of lamin A/C remains mostly elusive. Th
Externí odkaz:
https://doaj.org/article/d01b1c0d03794a5eba64ac7101dbe90c
Autor:
Lisa Gambarotto, Samuele Metti, Martina Chrisam, Cristina Cerqua, Patrizia Sabatelli, Andrea Armani, Carlo Zanon, Marianna Spizzotin, Silvia Castagnaro, Flavie Strappazzon, Paolo Grumati, Matilde Cescon, Paola Braghetta, Eva Trevisson, Francesco Cecconi, Paolo Bonaldo
Publikováno v:
Journal of Cachexia, Sarcopenia and Muscle, Vol 13, Iss 4, Pp 2211-2224 (2022)
Abstract Background Maintaining healthy mitochondria is mandatory for muscle viability and function. An essential surveillance mechanism targeting defective and harmful mitochondria to degradation is the selective form of autophagy called mitophagy.
Externí odkaz:
https://doaj.org/article/20e28c3148de45fc84c282fe3f3670ae
Autor:
Camilla M. Fontana, Lisa Locatello, Patrizia Sabatelli, Nicola Facchinello, Elisa Lidron, Francesca Maradonna, Oliana Carnevali, Maria B. Rasotto, Luisa Dalla Valle
Publikováno v:
Biomedical Journal, Vol 45, Iss 2, Pp 377-386 (2022)
Background: Dysregulation of the autophagic flux is linked to a wide array of human diseases, and recent findings highlighted the central role of autophagy in reproduction, as well as an association between impairment of autophagy and behavioural dis
Externí odkaz:
https://doaj.org/article/73a7f944b0fe46c8ae0b8ddf0a988753
Autor:
Maria Sofia Falzarano, Rachele Rossi, Andrea Grilli, Mingyan Fang, Hana Osman, Patrizia Sabatelli, Manuela Antoniel, Zhiyuan Lu, Wenyan Li, Rita Selvatici, Cristina Al-Khalili, Francesca Gualandi, Silvio Bicciato, Silvia Torelli, Alessandra Ferlini
Publikováno v:
Frontiers in Physiology, Vol 12 (2021)
Background: Neuromuscular disorders (NMDs) are a heterogeneous group of genetic diseases, caused by mutations in genes involved in spinal cord, peripheral nerve, neuromuscular junction, and muscle functions. To advance the knowledge of the pathologic
Externí odkaz:
https://doaj.org/article/73150439769649459f63a62da9f5f2a9
Autor:
Luciano Merlini, Patrizia Sabatelli, Manuela Antoniel, Valeria Carinci, Fabio Niro, Giuseppe Monetti, Annalaura Torella, Teresa Giugliano, Cesare Faldini, Vincenzo Nigro
Publikováno v:
Skeletal Muscle, Vol 9, Iss 1, Pp 1-7 (2019)
Abstract Background Myopalladin (MYPN) is a component of the sarcomere that tethers nebulin in skeletal muscle and nebulette in cardiac muscle to alpha-actinin at the Z lines. Autosomal dominant MYPN mutations cause hypertrophic, dilated, or restrict
Externí odkaz:
https://doaj.org/article/ce0333adde5d4243a33501124533fe99
Autor:
Chiara Passarelli, Rita Selvatici, Alberto Carrieri, Francesca Romana Di Raimo, Maria Sofia Falzarano, Fernanda Fortunato, Rachele Rossi, Volker Straub, Katie Bushby, Mojgan Reza, Irina Zharaieva, Adele D’Amico, Enrico Bertini, Luciano Merlini, Patrizia Sabatelli, Paola Borgiani, Giuseppe Novelli, Sonia Messina, Marika Pane, Eugenio Mercuri, Mireille Claustres, Sylvie Tuffery-Giraud, Annemieke Aartsma-Rus, Pietro Spitali, Peter A. C. T’Hoen, Hanns Lochmüller, Kristin Strandberg, Cristina Al-Khalili, Ekaterina Kotelnikova, Michael Lebowitz, Elena Schwartz, Francesco Muntoni, Chiara Scapoli, Alessandra Ferlini
Publikováno v:
Frontiers in Genetics, Vol 11 (2020)
BackgroundDuchenne muscular dystrophy (DMD) is a rare and severe X-linked muscular dystrophy in which the standard of care with variable outcome, also due to different drug response, is chronic off-label treatment with corticosteroids (CS). In order
Externí odkaz:
https://doaj.org/article/b81fc57f071f44379d499b268e34d2eb
Autor:
Stefania Bigoni, Marcella Neri, Chiara Scotton, Roberto Farina, Patrizia Sabatelli, Chongyi Jiang, Jianguo Zhang, Maria Sofia Falzarano, Rachele Rossi, Davide Ognibene, Rita Selvatici, Francesca Gualandi, Dieter Bosshardt, Paolo Perri, Claudio Campa, Francesco Brancati, Marco Salvatore, Maria Chiara De Stefano, Domenica Taruscio, Leonardo Trombelli, Mingyan Fang, Alessandra Ferlini
Publikováno v:
Frontiers in Genetics, Vol 9 (2019)
Only a few genes involved in teeth development and morphology are known to be responsible for tooth abnormalities in Mendelian-inherited diseases. We studied an inbred family of Pakistani origin in which two first-cousin born brothers are affected by
Externí odkaz:
https://doaj.org/article/8cca511bd15c49fc80252eb81cd72c0d