Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Boris Pantic"'
Autor:
Boris Pantic, Daniel Ives, Mara Mennuni, Diego Perez-Rodriguez, Uxoa Fernandez-Pelayo, Amaia Lopez de Arbina, Mikel Muñoz-Oreja, Marina Villar-Fernandez, Thanh-mai Julie Dang, Lodovica Vergani, Iain G. Johnston, Robert D. S. Pitceathly, Robert McFarland, Michael G. Hanna, Robert W. Taylor, Ian J. Holt, Antonella Spinazzola
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-14 (2021)
It has been a longstanding goal to promote the propagation of functional mitochondrial DNAs at the expense of pathological molecules in cells where the two species coexist. Here, the authors show that restricting the availability of glucose and gluta
Externí odkaz:
https://doaj.org/article/ddb6e0fbdcc044759f368cb2f07e6239
Autor:
Andrea Barp, Luca Bello, Luisa Politano, Paola Melacini, Chiara Calore, Angela Polo, Sara Vianello, Gianni Sorarù, Claudio Semplicini, Boris Pantic, Antonella Taglia, Ester Picillo, Francesca Magri, Ksenija Gorni, Sonia Messina, Gian Luca Vita, Giuseppe Vita, Giacomo P Comi, Mario Ermani, Vincenzo Calvo, Corrado Angelini, Eric P Hoffman, Elena Pegoraro
Publikováno v:
PLoS ONE, Vol 10, Iss 10, p e0141240 (2015)
Dilated cardiomyopathy (DCM) is a major complication and leading cause of death in Duchenne muscular dystrophy (DMD). DCM onset is variable, suggesting modifier effects of genetic or environmental factors. We aimed to determine if polymorphisms previ
Externí odkaz:
https://doaj.org/article/09eb8e7e632a48d186df44a7f3e8eab4
Autor:
Gianni Sorarù, Silvio C. E. Tosatto, Bruno F. Gavassini, Boris Pantic, Chiara Calore, Giovanna Cenacchi, Claudio Semplicini, Cinzia Bertolin, Maurizio Moggio, Francesca Guidolin, Giovanni Minervini, Elena Pegoraro, Roberto Stramare, Francesco Catapano, Luca Bello, Marco Previtero, Valentina Papa, Sara Vianello, Irene Colombo
Publikováno v:
Neurology. 91:e1629-e1641
ObjectiveTo identify and characterize patients with calsequestrin 1 (CASQ1)–related myopathy.MethodsPatients selected according to histopathologic features underwent CASQ1 genetic screening. CASQ1-mutated patients were clinically evaluated and unde
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9c93abbcdb8ddee2c079b008d3e01d0d
https://doi.org/10.1212/wnl.0000000000006387
https://doi.org/10.1212/wnl.0000000000006387
Autor:
Libero Vitiello, Gianni Sorarù, Boris Pantic, Sara Vianello, Doriana Borgia, Claudio Semplicini, Aurora Fusto, Luca Bello, Bruno F. Gavassini, Eva Galletta, Elena Pegoraro
Publikováno v:
Human Molecular Genetics. 26:3342-3351
Glucocorticoids are beneficial in Duchenne muscular dystrophy (DMD). Osteopontin (OPN), the protein product of SPP1, plays a role in DMD pathology modulating muscle inflammation and regeneration. A polymorphism in the SPP1 promoter (rs28357094) has b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d626d682d27d90ac68b47939ffc93c64
https://doi.org/10.1093/hmg/ddx218
https://doi.org/10.1093/hmg/ddx218
Autor:
Emanuele Loro, Matteo Suman, Annalisa Botta, Boris Pantic, Lodovica Vergani, Adriana Malena, Gyorgy Szabadkai, Giulia Del Moro
Publikováno v:
Genes, Vol 4, Iss 2, Pp 275-292 (2013)
Genes
Volume 4
Issue 2
Pages 275-292
Genes
Volume 4
Issue 2
Pages 275-292
The pathogenesis of Myotonic Dystrophy type 1 (DM1) is linked to unstable CTG repeats in the DMPK gene which induce the mis-splicing to fetal/neonatal isoforms of many transcripts, including those involved in cellular Ca2+ homeostasis. Here we monito
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::50233279b7c248f69a78b54ac1f22c78
http://www.mdpi.com/2073-4425/4/2/275
http://www.mdpi.com/2073-4425/4/2/275
Autor:
Adriana Malena, Boris Pantic, Marco Sandri, Doriana Borgia, Alessandra Baracca, Egle Perissinotto, Giancarlo Solaini, Lodovica Vergani, Antonella Spinazzola, Ian J. Holt, Gianluca Sgarbi
Pathological mutations in the mitochondrial DNA (mtDNA) produce a diverse range of tissue-specific diseases and the proportion of mutant mitochondrial DNA can increase or decrease with time via segregation, dependent on the cell or tissue type. Previ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::04beb5ad2825c7a98175365e66b91d00
https://europepmc.org/articles/PMC5103342/
https://europepmc.org/articles/PMC5103342/
Autor:
Boris Pantic, Anita De Rossi, Annalisa Botta, Silvia Giunco, Emiliano Giardina, Elena Pegoraro, Sergio Salvatori, Doriana Borgia, Tohru Kiyono, Federica Sangiuolo, Adriana Malena, Lodovica Vergani
Primary human skeletal muscle cells (hSkMCs) are invaluable tools for deciphering the basic molecular mechanisms of muscle-related biological processes and pathological alterations. Nevertheless, their use is quite restricted due to poor availability
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1707c58c41537b001d1d11b0d318bed3
http://hdl.handle.net/2108/166252
http://hdl.handle.net/2108/166252
Autor:
Ester Picillo, Gian Luca Vita, Corrado Angelini, Luisa Politano, Boris Pantic, Francesca Magri, Giacomo P. Comi, Paola Melacini, Luca Bello, Andrea Barp, Antonella Taglia, Gianni Sorarù, Mario Ermani, Sara Vianello, Ksenija Gorni, Giuseppe Vita, Vincenzo Calvo, Sonia Messina, Elena Pegoraro, Chiara Calore, Eric P. Hoffman, Claudio Semplicini, Angela Polo
Publikováno v:
PLoS ONE
PLoS ONE, Vol 10, Iss 10, p e0141240 (2015)
PLoS ONE, Vol 10, Iss 10, p e0141240 (2015)
Objective Dilated cardiomyopathy (DCM) is a major complication and leading cause of death in Duchenne muscular dystrophy (DMD). DCM onset is variable, suggesting modifier effects of genetic or environmental factors. We aimed to determine if polymorph
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af267b9b2840d6bc0d0f25f3823b8b0d
http://hdl.handle.net/11570/3065152
http://hdl.handle.net/11570/3065152
Autor:
Oriano Marin, Lucia Cenci, Anna Maria Brunati, Giuseppe Novelli, Giulio Rossi, Maria Concetta Bellocchi, Emmanuele Ambrosi, Vincenzo Romeo, Mario A. Pagano, Emanuele Loro, Hugo L. Monaco, Annalisa Botta, Boris Pantic, Elena Tibaldi, Adriana Malena, E. Pena, Elisabetta Gianazza, Lodovica Vergani, L. Rocchi
Publikováno v:
Cell Death & Disease
Myotonic dystrophy type-1 (DM1) is the most prevalent form of muscular dystrophy in adults. This disorder is an RNA-dominant disease, caused by expansion of a CTG repeat in the DMPK gene that leads to a misregulation in the alternative splicing of pr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d7858b2f02e2b359cec0f39042e940b
http://hdl.handle.net/11562/611551
http://hdl.handle.net/11562/611551
The permeability transition pore (PTP) is an inner mitochondrial membrane channel that has been thoroughly characterized functionally, yet remains an elusive molecular entity. The best characterized PTP-regulatory component, cyclophilin (CyP) D, is a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f4d3978348a8f3b3e32c5390824183c
http://hdl.handle.net/11577/2436001
http://hdl.handle.net/11577/2436001