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15 results on '"Daponte, Valentina"'

3. Zebrafish Tric-b is required for skeletal development and bone cells differentiation

Author

Tonelli, Francesca, primary, Leoni, Laura, additional, Daponte, Valentina, additional, Gioia, Roberta, additional, Cotti, Silvia, additional, Fiedler, Imke A. K., additional, Larianova, Daria, additional, Willaert, Andy, additional, Coucke, Paul J., additional, Villani, Simona, additional, Busse, Björn, additional, Besio, Roberta, additional, Rossi, Antonio, additional, Witten, P. Eckhard, additional, and Forlino, Antonella, additional

Published
2023
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7. Novel RPL13 Variants and Variable Clinical Expressivity in a Human Ribosomopathy With Spondyloepimetaphyseal Dysplasia.

Author

UCL - (SLuc) Centre de génétique médicale UCL, UCL - (SLuc) Centre de référence neuromusculaire, UCL - (SLuc) Service d'oto-rhino-laryngologie, Costantini, Alice, Alm, Jessica J, Tonelli, Francesca, Valta, Helena, Huber, Céline, Tran, Anh N, Daponte, Valentina, Kirova, Nadi, Kwon, Yong-Uk, Bae, Jung Yun, Chung, Woo Yeong, Tan, Shengjiang, Sznajer, Yves, Nishimura, Gen, Näreoja, Tuomas, Warren, Alan J, Cormier-Daire, Valérie, Kim, Ok-Hwa, Forlino, Antonella, Cho, Tae-Joon, Mäkitie, Outi, UCL - (SLuc) Centre de génétique médicale UCL, UCL - (SLuc) Centre de référence neuromusculaire, UCL - (SLuc) Service d'oto-rhino-laryngologie, Costantini, Alice, Alm, Jessica J, Tonelli, Francesca, Valta, Helena, Huber, Céline, Tran, Anh N, Daponte, Valentina, Kirova, Nadi, Kwon, Yong-Uk, Bae, Jung Yun, Chung, Woo Yeong, Tan, Shengjiang, Sznajer, Yves, Nishimura, Gen, Näreoja, Tuomas, Warren, Alan J, Cormier-Daire, Valérie, Kim, Ok-Hwa, Forlino, Antonella, Cho, Tae-Joon, and Mäkitie, Outi

Abstract

Spondyloepimetaphyseal dysplasias (SEMDs) are a heterogeneous group of disorders with variable growth failure and skeletal impairments affecting the spine and long bone epiphyses and metaphyses. Here we report on four unrelated families with SEMD in which we identified two monoallelic missense variants and one monoallelic splice site variant in RPL13, encoding the ribosomal protein eL13. In two out of four families, we observed autosomal dominant inheritance with incomplete penetrance and variable clinical expressivity; the phenotypes of the mutation-positive subjects ranged from normal height with or without hip dysplasia to severe SEMD with severe short stature and marked skeletal dysplasia. In vitro studies on patient-derived dermal fibroblasts harboring RPL13 missense mutations demonstrated normal eL13 expression, with proper subcellular localization but reduced colocalization with eL28 (p < 0.001). Cellular functional defects in fibroblasts from mutation-positive subjects indicated a significant increase in the ratio of 60S subunits to 80S ribosomes (p = 0.007) and attenuated global translation (p = 0.017). In line with the human phenotype, our rpl13 mutant zebrafish model, generated by CRISPR-Cas9 editing, showed cartilage deformities at embryonic and juvenile stages. These findings extend the genetic spectrum of RPL13 mutations causing this novel human ribosomopathy with variable skeletal features. Our study underscores for the first time incomplete penetrance and broad phenotypic variability in SEMD-RPL13 type and confirms impaired ribosomal function. Furthermore, the newly generated rpl13 mutant zebrafish model corroborates the role of eL13 in skeletogenesis. © 2020 The Authors. Journal of Bone and Mineral Research published by Wiley Periodicals LLC on behalf of American Society for Bone and Mineral Research (ASBMR)..

Published
2021

10. Novel RPL13 variants and evidence for incomplete penetrance in a human ribosomopathy with spondyloepimetaphyseal dysplasia

Author

Costantini, Alice, primary, Alm, Jessica J., additional, Tonelli, Francesca, additional, Valta, Helena, additional, Huber, Céline, additional, Tran, Anh N., additional, Daponte, Valentina, additional, Kirova, Nadi, additional, Kwon, Yong-Uk, additional, Bae, Jung Yun, additional, Chung, Woo Yeong, additional, Tan, Shengjiang, additional, Sznajer, Yves, additional, Nishimura, Gen, additional, Näreoja, Tuomas, additional, Warren, Alan J., additional, Cormier-Daire, Valérie, additional, Kim, Ok-Hwa, additional, Forlino, Antonella, additional, Cho, Tae-Joon, additional, and Mäkitie, Outi, additional

Published
2020
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11. Novel RPL13 Variants and Variable Clinical Expressivity in a Human Ribosomopathy With Spondyloepimetaphyseal Dysplasia

Author

Costantini, Alice, primary, Alm, Jessica J, additional, Tonelli, Francesca, additional, Valta, Helena, additional, Huber, Céline, additional, Tran, Anh N, additional, Daponte, Valentina, additional, Kirova, Nadi, additional, Kwon, Yong-Uk, additional, Bae, Jung Yun, additional, Chung, Woo Yeong, additional, Tan, Shengjiang, additional, Sznajer, Yves, additional, Nishimura, Gen, additional, Näreoja, Tuomas, additional, Warren, Alan J, additional, Cormier-Daire, Valérie, additional, Kim, Ok-Hwa, additional, Forlino, Antonella, additional, Cho, Tae-Joon, additional, and Mäkitie, Outi, additional

Published
2020
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12. Altered 3 hydroxylation complex in bone homeostasis

Author

Tonelli, Francesca, primary, Leoni, Laura, additional, Cotti, Silvia, additional, Giannini, Gabriella, additional, Daponte, Valentina, additional, Gioia, Roberta, additional, Fiedler, Imke, additional, Besio, Roberta, additional, Rossi, Antonio, additional, Busse, Bjorn, additional, Witten, Eckhard, additional, and Forlino, Antonella, additional

Published
2019
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13. Generation of osteogenesis imperfecta type XIV zebrafish models

Author

Leoni, Laura, primary, Tonelli, Francesca, additional, Cotti, Silvia, additional, Giannini, Gabriella, additional, Daponte, Valentina, additional, Gioia, Roberta, additional, Besio, Roberta, additional, Garibaldi, Nadia, additional, Rossi, Antonio, additional, and Forlino, Antonella, additional

Published
2019
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14. Novel RPL13 Variants and Variable Clinical Expressivity in a Human Ribosomopathy With Spondyloepimetaphyseal Dysplasia.

Author

Costantini, Alice, Alm, Jessica J, Tonelli, Francesca, Valta, Helena, Huber, Céline, Tran, Anh N, Daponte, Valentina, Kirova, Nadi, Kwon, Yong‐Uk, Bae, Jung Yun, Chung, Woo Yeong, Tan, Shengjiang, Sznajer, Yves, Nishimura, Gen, Näreoja, Tuomas, Warren, Alan J, Cormier‐Daire, Valérie, Kim, Ok‐Hwa, Forlino, Antonella, and Cho, Tae‐Joon

Abstract

Spondyloepimetaphyseal dysplasias (SEMDs) are a heterogeneous group of disorders with variable growth failure and skeletal impairments affecting the spine and long bone epiphyses and metaphyses. Here we report on four unrelated families with SEMD in which we identified two monoallelic missense variants and one monoallelic splice site variant in RPL13, encoding the ribosomal protein eL13. In two out of four families, we observed autosomal dominant inheritance with incomplete penetrance and variable clinical expressivity; the phenotypes of the mutation‐positive subjects ranged from normal height with or without hip dysplasia to severe SEMD with severe short stature and marked skeletal dysplasia. In vitro studies on patient‐derived dermal fibroblasts harboring RPL13 missense mutations demonstrated normal eL13 expression, with proper subcellular localization but reduced colocalization with eL28 (p < 0.001). Cellular functional defects in fibroblasts from mutation‐positive subjects indicated a significant increase in the ratio of 60S subunits to 80S ribosomes (p = 0.007) and attenuated global translation (p = 0.017). In line with the human phenotype, our rpl13 mutant zebrafish model, generated by CRISPR‐Cas9 editing, showed cartilage deformities at embryonic and juvenile stages. These findings extend the genetic spectrum of RPL13 mutations causing this novel human ribosomopathy with variable skeletal features. Our study underscores for the first time incomplete penetrance and broad phenotypic variability in SEMD‐RPL13 type and confirms impaired ribosomal function. Furthermore, the newly generated rpl13 mutant zebrafish model corroborates the role of eL13 in skeletogenesis. © 2020 The Authors. Journal of Bone and Mineral Research published by Wiley Periodicals LLC on behalf of American Society for Bone and Mineral Research (ASBMR).. [ABSTRACT FROM AUTHOR]

Published
2021
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15. Novel RPL13variants and evidence for incomplete penetrance in a human ribosomopathy with spondyloepimetaphyseal dysplasia

Author

Costantini, Alice, Alm, Jessica J., Tonelli, Francesca, Valta, Helena, Huber, Céline, Tran, Anh N., Daponte, Valentina, Kirova, Nadi, Kwon, Yong-Uk, Bae, Jung Yun, Chung, Woo Yeong, Tan, Shengjiang, Sznajer, Yves, Nishimura, Gen, Näreoja, Tuomas, Warren, Alan J., Cormier-Daire, Valérie, Kim, Ok-Hwa, Forlino, Antonella, Cho, Tae-Joon, and Mäkitie, Outi

Published
2020
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