Zobrazeno 1 - 10
of 24
pro vyhledávání: '"Serena Baratto"'
Autor:
Nastasia Cardone, Valentina Taglietti, Serena Baratto, Kaouthar Kefi, Baptiste Periou, Ciryl Gitiaux, Christine Barnerias, Peggy Lafuste, France Leturcq Pharm, Juliette Nectoux Pharm, Chiara Panicucci, Isabelle Desguerre, Claudio Bruno, François-Jerome Authier, Chiara Fiorillo, Frederic Relaix, Edoardo Malfatti
Publikováno v:
Acta Neuropathologica Communications, Vol 11, Iss 1, Pp 1-11 (2023)
Abstract Duchenne muscular dystrophy (DMD) is a devastating X-linked muscular disease, caused by mutations in the DMD gene encoding Dystrophin and affecting 1:5000 boys worldwide. Lack of Dystrophin leads to progressive muscle wasting and degeneratio
Externí odkaz:
https://doaj.org/article/b6d306702c484b0da14b8cd7bffee00a
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:
Patrizia Benzoni, Elisabetta Gazzerro, Chiara Fiorillo, Serena Baratto, Chiara Bartolucci, Stefano Severi, Raffaella Milanesi, Melania Lippi, Marianna Langione, Carmen Murano, Clarissa Meoni, Vera Popolizio, Alessandro Cospito, Mirko Baruscotti, Annalisa Bucchi, Andrea Barbuti
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 2, p 980 (2024)
Caveolae constitute membrane microdomains where receptors and ion channels functionally interact. Caveolin-3 (cav-3) is the key structural component of muscular caveolae. Mutations in CAV3 lead to caveolinopathies, which result in both muscular dystr
Externí odkaz:
https://doaj.org/article/dceef9976bb945ec974eb0c356f6b3f1
Autor:
Marco Veneruso, Chiara Fiorillo, Paolo Broda, Serena Baratto, Monica Traverso, Alice Donati, Salvatore Savasta, Raffaele Falsaperla, Maria Margherita Mancardi, Marina Pedemonte, Chiara Panicucci, Gianluca Piatelli, Mattia Pacetti, Andrea Moscatelli, Luca Antonio Ramenghi, Lino Nobili, Carlo Minetti, Claudio Bruno
Publikováno v:
Frontiers in Neurology, Vol 12 (2021)
The role of muscle biopsy in the diagnostic workup of floppy infants is controversial. Muscle sampling is invasive, and often, results are not specific. The rapid expansion of genetic approach has made the muscle histopathology analysis less crucial.
Externí odkaz:
https://doaj.org/article/7bc4546c313146c59871dc5aa057c0dc
Autor:
Michele Iacomino, Roberto Doliana, Maria Marchese, Alessandra Capuano, Pasquale Striano, Paola Spessotto, Giulia Bosisio, Rosa Iodice, Fiore Manganelli, Paola Lanteri, Alessandro Orsini, Simona Baldassari, Serena Baratto, Floriana Fruscione, Valeria Prada, Paolo Broda, Alessandra Tessa, Giulia Bertocci, Angelo Schenone, Alfonso Colombatti, Carlo Minetti, Filippo Maria Santorelli, Federico Zara, Chiara Fiorillo
Publikováno v:
Neurobiology of Disease, Vol 137, Iss , Pp 104757- (2020)
Elastin microfibril interface-located proteins (EMILINs) are extracellular matrix glycoproteins implicated in elastogenesis and cell proliferation.Recently, a missense mutation in the EMILIN1 gene has been associated with autosomal dominant connectiv
Externí odkaz:
https://doaj.org/article/9a36e1be846742a28a19c9ad3e99f747
Autor:
Lizzia Raffaghello, Elisa Principi, Serena Baratto, Chiara Panicucci, Sara Pintus, Francesca Antonini, Genny Del Zotto, Andrea Benzi, Santina Bruzzone, Paolo Scudieri, Carlo Minetti, Elisabetta Gazzerro, Claudio Bruno
Publikováno v:
Pharmaceuticals, Vol 15, Iss 1, p 89 (2022)
Limb-girdle muscular dystrophy R3, a rare genetic disorder affecting the limb proximal muscles, is caused by mutations in the α-sarcoglycan gene (Sgca) and aggravated by an immune-mediated damage, finely modulated by the extracellular (e)ATP/purinoc
Externí odkaz:
https://doaj.org/article/2f18f0efd8214bbaa179de5db37a487b
Autor:
Viviana Meraviglia, Patrizia Benzoni, Sara Landi, Carmen Murano, Marianna Langione, Benedetta M. Motta, Serena Baratto, Rosamaria Silipigni, Marina Di Segni, Peter P. Pramstaller, Dario DiFrancesco, Elisabetta Gazzerro, Andrea Barbuti, Alessandra Rossini
Publikováno v:
Stem Cell Research, Vol 27, Iss , Pp 25-29 (2018)
Caveolinopathies are a heterogeneous family of genetic pathologies arising from alterations of the caveolin-3 gene (CAV3), encoding for the isoform specifically constituting muscle caveolae. Here, by reprogramming peripheral blood mononuclear cells,
Externí odkaz:
https://doaj.org/article/6e812861cadc46bfa75010c1bf6d5fc8
Autor:
Chiara Panicucci, Lizzia Raffaghello, Santina Bruzzone, Serena Baratto, Elisa Principi, Carlo Minetti, Elisabetta Gazzerro, Claudio Bruno
Publikováno v:
International Journal of Molecular Sciences, Vol 21, Iss 17, p 5963 (2020)
In muscle ATP is primarily known for its function as an energy source and as a mediator of the “excitation-transcription” process, which guarantees muscle plasticity in response to environmental stimuli. When quickly released in massive concentra
Externí odkaz:
https://doaj.org/article/84913a987d104101a8121e829478dbde
Autor:
Carolina Croci, Matteo Cataldi, Serena Baratto, Claudio Bruno, Federica Trucco, Stefano Doccini, Alessandro Romano, Claudia Nesti, Filippo Maria Santorelli, Chiara Fiorillo
Publikováno v:
Neuropediatrics. 54:211-216
Introduction Pyruvate dehydrogenase complex (PDH) deficiency (Online Mendelian Inheritance in Man # 312170) is a relatively common mitochondrial disorder, caused by mutations in the X-linked PDHA1 gene and presenting with a variable phenotypic spectr
Autor:
Chiara Panicucci, Sara Casalini, Monica Traverso, Noemi Brolatti, Serena Baratto, Lizzia Raffaghello, Marina Pedemonte, Luca Doglio, Maria Derchi, Giorgio Tasca, Beatrice M. Damasio, Chiara Fiorillo, Claudio Bruno
Publikováno v:
Neuropediatrics.
Emery-Dreifuss muscular dystrophy (EDMD) is a rare disease characterized by early contractures, progressive muscle weakness, and cardiac abnormalities. Different subtypes of EDMD have been described, with the two most common forms represented by the