TAPT1—at the crossroads of extracellular matrix and signaling in Osteogenesis imperfecta

Authors: Julia Etich, Oliver Semler, Nicola L Stevenson, Alice Stephan, Roberta Besio, Nadia Garibaldi, Nadine Reintjes, Claudia Dafinger, Max Christoph Liebau, Ulrich Baumann, Matthias Mörgelin, Antonella Forlino, David J Stephens, Christian Netzer, Frank Zaucke, Mirko Rehberg

Source: EMBO Molecular Medicine, Vol 15, Iss 7, Pp 1-5 (2023)

Subject Terms: Medicine (General), R5-920, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1757-4676; https://doaj.org/toc/1757-4684

Access URL: https://doaj.org/article/077e278d65f247e7b8af5b5934cd8fe4

Dissecting the phenotypic variability of osteogenesis imperfecta

Authors: Nadia Garibaldi, Roberta Besio, Raymond Dalgleish, Simona Villani, Aileen M. Barnes, Joan C. Marini, Antonella Forlino

Source: Disease Models & Mechanisms, Vol 15, Iss 5 (2022)

Subject Terms: bone, osteogenesis imperfecta, phenotypic variability, Medicine, Pathology, RB1-214

File Description: electronic resource

Relation: http://dmm.biologists.org/content/15/5/dmm049398; https://doaj.org/toc/1754-8403; https://doaj.org/toc/1754-8411

Access URL: https://doaj.org/article/2931376091714cb2890c2a6ce1153bad

Fate of intracellular retained mutant collagen

Authors: Roberta Besio, Nadia Garibaldi, Nicoletta Gabriella Giannini, Saïd Bendahhou, Antonella Forlino

Source: Bone Reports, Vol 13, Iss , Pp 100606- (2020)

Subject Terms: Diseases of the musculoskeletal system, RC925-935

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2352187220303661; https://doaj.org/toc/2352-1872

Access URL: https://doaj.org/article/9fa77e639543412f965609133c6bb59f

Osteoblasts mineralization and collagen matrix are conserved upon specific Col1a2 silencing

Authors: Silvia Maruelli, Roberta Besio, Julie Rousseau, Nadia Garibaldi, Jérôme Amiaud, Bénédicte Brulin, Pierre Layrolle, Virginie Escriou, Antonio Rossi, Valerie Trichet, Antonella Forlino

Source: Matrix Biology Plus, Vol 6, Iss , Pp 100028- (2020)

Subject Terms: Collagen, Osteogenesis imperfecta, siRNA, Silencing, Gene therapy, Biology (General), QH301-705.5

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2590028520300090; https://doaj.org/toc/2590-0285

Access URL: https://doaj.org/article/e063cf7e3e1d44e08b093c64f4285294

Cellular stress due to impairment of collagen prolyl hydroxylation complex is rescued by the chaperone 4-phenylbutyrate

Authors: Roberta Besio, Nadia Garibaldi, Laura Leoni, Lina Cipolla, Simone Sabbioneda, Marco Biggiogera, Monica Mottes, Mona Aglan, Ghada A. Otaify, Samia A. Temtamy, Antonio Rossi, Antonella Forlino

Source: Disease Models & Mechanisms, Vol 12, Iss 6 (2019)

Subject Terms: Osteogenesis imperfecta, Endoplasmic reticulum stress, Chemical chaperone, Unfolded protein response, 4-PBA, Medicine, Pathology, RB1-214

File Description: electronic resource

Relation: http://dmm.biologists.org/content/12/6/dmm038521; https://doaj.org/toc/1754-8403; https://doaj.org/toc/1754-8411

Access URL: https://doaj.org/article/9f97c041deb94e468d25a67f4be54661