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Identification of potential non-invasive biomarkers in diastrophic dysplasia Paganini, Chiara; Carroll, Ricki S.; Tota, Chiara Gramegna; Schelhaas, Andrea J.; Leone, Alessandra; Duker, Angela L.; O'Connell, David A.; Coghlan, Ryan F.; Johnstone, Brian; Ferreira, Carlos R.; Peressini, Sabrina; Albertini, Riccardo; Forlino, Antonella; Bonafe, Luisa; Campos-Xavier, Ana Belinda; Superti-Furga, Andrea; Zankl, Andreas; Rossi, Antonio; Bober, Michael B. 分享 收藏
Zebrafish Tric-b is required for skeletal development and bone cells differentiation Tonelli, Francesca; Leoni, Laura; Daponte, Valentina; Gioia, Roberta; Cotti, Silvia; Fiedler, Imke A. K.; Larianova, Daria; Willaert, Andy; Coucke, Paul J.; Villani, Simona; Busse, Bjoern; Besio, Roberta; Rossi, Antonio; Witten, P. Eckhard; Forlino, Antonella 分享 收藏
Biallelic variants in SLC35B2 cause a novel chondrodysplasia with hypomyelinating leukodystrophy SLC35B2中的双等位基因变体引起了一种新的软骨发育不良，并伴有髓性脑白质营养不良 Guasto, Alessandra; Dubail, Johanne; Aguilera-Albesa, Sergio; Paganini, Chiara; Vanhulle, Catherine; Haouari, Walid; Gorria-Redondo, Nerea; Aznal-Sainz, Elena; Boddaert, Nathalie; Planas-Serra, Laura; Schluter, Agatha; Velez-Santamaria, Valentina; Verdura, Edgard; Bruneel, Arnaud; Rossi, Antonio; Huber, Celine; Pujol, Aurora; Cormier-Daire, Valerie 分享 收藏
Improvement of the skeletal phenotype in a mouse model of diastrophic dysplasia after postnatal treatment with N-acetylcysteine Paganini, Chiara; Tota, Chiara Gramegna; Monti, Luca; Monti, Ilaria; Maurizi, Antonio; Capulli, Mattia; Bourmaud, Morgane; Teti, Anna; Cohen-Solal, Martine; Villani, Simona; Forlino, Antonella; Superti-Furga, Andrea; Rossi, Antonio 分享 收藏
Enzyme replacement therapy in mice lacking arylsulfatase B targets bone-remodeling cells, but not chondrocytes Hendrickx, Gretl; Danyukova, Tatyana; Baranowsky, Anke; Rolvien, Tim; Angermann, Alexandra; Schweizer, Michaela; Keller, Johannes; Schroeder, Joerg; Meyer-Schwesinger, Catherine; Muschol, Nicole; Paganini, Chiara; Rossi, Antonio; Amling, Michael; Pohl, Sandra; Schinke, Thorsten 分享 收藏
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Cellular stress due to impairment of collagen prolyl hydroxylation complex is rescued by the chaperone 4-phenylbutyrate Besio, Roberta; Garibaldi, Nadia; Leoni, Laura; Cipolla, Lina; Sabbioneda, Simone; Biggiogera, Marco; Mottes, Monica; Aglan, Mona; Otaify, Ghada A.; Temtamy, Samia A.; Rossi, Antonio; Forlino, Antonella 分享 收藏
The Lysosomal Protein Arylsulfatase B Is a Key Enzyme Involved in Skeletal Turnover Pohl, Sandra; Angermann, Alexandra; Jeschke, Anke; Hendrickx, Gretl; Yorgan, Timur A.; Makrypidi-Fraune, Georgia; Steigert, Anita; Kuehn, Sonja C.; Rolvien, Tim; Schweizer, Michaela; Koehne, Till; Neven, Mona; Winter, Olga; Velho, Renata Voltolini; Albers, Joachim; Streichert, Thomas; Pestka, Jan M.; Baldauf, Christina; Breyer, Sandra; Stuecker, Ralf; Muschol, Nicole; Cox, Timothy M.; Saftig, Paul; Paganini, Chiara; Rossi, Antonio; Amling, Michael; Braulke, Thomas; Schinke, Thorsten 分享 收藏
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Impaired proteoglycan glycosylation, elevated TGF-β signaling, and abnormal osteoblast differentiation as the basis for bone fragility in a mouse model for gerodermia osteodysplastica 蛋白聚糖糖基化受损，tgf-β 信号转导升高和成骨细胞分化异常是gerodermia骨发育不良小鼠模型中骨脆性的基础 Chan, Wing Lee; Steiner, Magdalena; Witkos, Tomasz; Egerer, Johannes; Busse, Bjoern; Mizumoto, Shuji; Pestke, Jan M.; Zhang, Haikuo; Hausser, Ingrid; Khayal, Layal Abo; Ott, Claus-Eric; Kolanczyk, Mateusz; Willie, Bettina; Schinke, Thorsten; Paganini, Chiara; Rossi, Antonio; Sugahara, Kazuyuki; Amling, Michael; Knaus, Petra; Chan, Danny; Lowe, Martin; Mundlos, Stefan; Kornak, Uwe 分享 收藏
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NANS-mediated synthesis of sialic acid is required for brain and skeletal development (vol 48, pg 777, 2016) van Karnebeek, Clara D. M.; Bonafe, Luisa; Wen, Xiao-Yan; Tarailo-Graovac, Maja; Balzano, Sara; Royer-Bertrand, Beryl; Ashikov, Angel; Garavelli, Livia; Mammi, Isabella; Turolla, Licia; Breen, Catherine; Donnai, Dian; Cormier-Daire, Valerie; Heron, Delphine; Nishimura, Gen; Uchikawa, Shinichi; Campos-Xavier, Belinda; Rossi, Antonio; Hennet, Thierry; Brand-Arzamendi, Koroboshka; Rozmus, Jacob; Harshman, Keith; Stevenson, Brian J.; Girardi, Enrico; Superti-Furga, Giulio; Dewan, Tammie; Collingridge, Alissa; Halparin, Jessie; Ross, Colin J.; Van Allen, Margot I.; Rossi, Andrea; Engelke, Udo F.; Kluijtmans, Leo A. J.; van der Heeft, Ed; Renkema, Herma; de Brouwer, Arjan; Huijben, Karin; Zijlstra, Fokje; Heise, Torben; Boltje, Thomas; Wasserman, Wyeth W.; Rivolta, Carlo; Unger, Sheila; Lefeber, Dirk J.; Wevers, Ron A.; Superti-Furga, Andrea 分享 收藏
The chaperone activity of 4PBA ameliorates the skeletal phenotype of Chihuahua, a zebrafish model for dominant osteogenesis imperfecta Gioia, Roberta; Tonelli, Francesca; Ceppi, Ilaria; Biggiogera, Marco; Leikin, Sergey; Fisher, Shannon; Tenedini, Elena; Yorgan, Timur A.; Schinke, Thorsten; Tian, Kun; Schwartz, Jean-Marc; Forte, Fabiana; Wagener, Raimund; Villani, Simona; Rossi, Antonio; Forlino, Antonella 分享 收藏
Chondroitin Sulfate N-acetylgalactosaminyltransferase-1 (CSGalNAcT-1) Deficiency Results in a Mild Skeletal Dysplasia and Joint Laxity Vodopiutz, Julia; Mizumoto, Shuji; Lausch, Ekkehart; Rossi, Antonio; Unger, Sheila; Janocha, Nikolaus; Costantini, Rossella; Seidl, Rainer; Greber-Platzer, Susanne; Yamada, Shuhei; Mueller, Thomas; Jilma, Bernd; Ganger, Rudolf; Superti-Furga, Andrea; Ikegawa, Shiro; Sugahara, Kazuyuki; Janecke, Andreas R. 分享 收藏
NANS-mediated synthesis of sialic acid is required for brain and skeletal development van Karnebeek, Clara D. M.; Bonafe, Luisa; Wen, Xiao-Yan; Tarailo-Graovac, Maja; Balzano, Sara; Royer-Bertrand, Beryl; Ashikov, Angel; Garavelli, Livia; Mammi, Isabella; Turolla, Licia; Breen, Catherine; Donnai, Dian; Cormier-Daire, Valerie; Heron, Delphine; Nishimura, Gen; Uchikawa, Shinichi; Campos-Xavier, Belinda; Rossi, Antonio; Hennet, Thierry; Brand-Arzamendi, Koroboshka; Rozmus, Jacob; Harshman, Keith; Stevenson, Brian J.; Girardi, Enrico; Superti-Furga, Giulio; Dewan, Tammie; Collingridge, Alissa; Halparin, Jessie; Ross, Colin J.; Van Allen, Margot I.; Rossi, Andrea; Engelke, Udo F.; Kluijtmans, Leo A. J.; van der Heeft, Ed; Renkema, Herma; de Brouwer, Arjan; Huijben, Karin; Zijlstra, Fokje; Heise, Torben; Boltje, Thomas; Wasserman, Wyeth W.; Rivolta, Carlo; Unger, Sheila; Lefeber, Dirk J.; Wevers, Ron A.; Superti-Furga, Andrea 分享 收藏
Zebrafish Collagen Type I: Molecular and Biochemical Characterization of the Major Structural Protein in Bone and Skin Gistelinck, C.; Gioia, R.; Gagliardi, A.; Tonelli, F.; Marchese, L.; Bianchi, L.; Landi, C.; Bini, L.; Huysseune, A.; Witten, P. E.; Staes, A.; Gevaert, K.; De Rocker, N.; Menten, B.; Malfait, F.; Leikin, S.; Carra, S.; Tenni, R.; Rossi, A.; De Paepe, A.; Coucke, P.; Willaert, A.; Forlino, A. 分享 收藏
Altered cytoskeletal organization characterized lethal but not surviving Brtl+/- mice: insight on phenotypic variability in osteogenesis imperfecta Bianchi, Laura; Gagliardi, Assunta; Maruelli, Silvia; Besio, Roberta; Landi, Claudia; Gioia, Roberta; Kozloff, Kenneth M.; Khoury, Basma M.; Coucke, Paul J.; Symoens, Sofie; Marini, Joan C.; Rossi, Antonio; Bini, Luca; Forlino, Antonella 分享 收藏
N-acetylcysteine treatment ameliorates the skeletal phenotype of a mouse model of diastrophic dysplasia Monti, Luca; Paganini, Chiara; Lecci, Silvia; De Leonardis, Fabio; Hay, Eric; Cohen-Solal, Martine; Villani, Simona; Superti-Furga, Andrea; Tenni, Ruggero; Forlino, Antonella; Rossi, Antonio 分享 收藏
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