Accès ouvert
2026
article
OpenAlex
Elisabetta Mattioli, Vittoria Cenni, Patrizia Sabatelli, Elisa Schena et autres
During myogenic differentiation, the Microtubule-Organizing Center (MTOC) is relocated to the nuclear envelope by a molecular platform including Linker of Nucleoskeleton and Cytoskeleton (LINC) complex proteins, A Kinase Anchoring Proteins (AKAP9 and AKAP6) and Pericentriolar Material 1 (PCM-1). Here, we show that …
it
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Accès ouvert
2025
article
OpenAlex
Eleonora Cattin, Elisa Schena, Elisabetta Mattioli, Stefania Marcuzzo et autres
Emery–Dreifuss muscular dystrophy (EDMD) is caused by mutations in EMD, LMNA, SYNE1, SYNE2, and other related genes. The disease is characterized by joint contractures, muscle weakening and wasting, and heart conduction defects associated with dilated cardiomyopathy. Previous studies demonstrated the activation of …
it, gb
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Accès ouvert
2024
article
OpenAlex
Daniela Benati, Eleonora Cattin, Federico Corradi, Tommaso Micelli Ferrari et autres
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 and are …
it
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Accès ouvert
2022
article
OpenAlex
Samantha Baldassarri, Daniela Benati, Federica D’Alessio, Clarissa Patrizi et autres
Sleeping Beauty (SB) is the first DNA transposon employed for efficient transposition in vertebrate cells, opening new applications for genetic engineering and gene therapies. A transposon-based gene delivery system holds the favourable features of non-viral vectors and an attractive safety profile. Here, …
it
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