Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Chiara Gramegna Tota"'
Autor:
Chiara Gramegna Tota, Alessandra Leone, Asifa Khan, Antonella Forlino, Antonio Rossi, Chiara Paganini
Publikováno v:
Biomolecules, Vol 14, Iss 9, p 1064 (2024)
Desbuquois dysplasia type 1 (DBQD1) is a recessive chondrodysplasia caused by mutations in the CANT1 gene, encoding for the Golgi Calcium-Activated Nucleotidase 1 (CANT1). The enzyme hydrolyzes UDP, the by-product of glycosyltransferase reactions, bu
Externí odkaz:
https://doaj.org/article/d9c90a9e00354b30b7298d5b36892585
Autor:
Chiara Gramegna Tota, Chiara Paganini, Luca Monti, Giulia Quattrini, Antonella Forlino, Morgane Bourmaud, Martine Cohen-Solal, Antonio Maurizi, Mattia Capulli, Anna Teti, Andrea Superti-Furga, Antonio Rossi
Publikováno v:
Bone Reports, Vol 14, Iss , Pp 101008- (2021)
Externí odkaz:
https://doaj.org/article/e05eba8d71b54ab3ab28755110ff5c1c
Publikováno v:
Methods in Molecular Biology ISBN: 9781071629451
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9e60bdd0568a155b978d5ee25acc8980
https://doi.org/10.1007/978-1-0716-2946-8_11
https://doi.org/10.1007/978-1-0716-2946-8_11
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 9304, p 9304 (2021)
International Journal of Molecular Sciences
Volume 22
Issue 17
International Journal of Molecular Sciences
Volume 22
Issue 17
The complexity of skeletal pathologies makes use of in vivo models essential to elucidate the pathogenesis of the diseases
nevertheless, chondrocyte and osteoblast cell lines provide relevant information on the underlying disease mechanisms. Due
nevertheless, chondrocyte and osteoblast cell lines provide relevant information on the underlying disease mechanisms. Due
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca6dc5e7fd11483c2063994fda20757b
https://www.mdpi.com/1422-0067/22/17/9304
https://www.mdpi.com/1422-0067/22/17/9304
Publikováno v:
International Journal of Molecular Sciences
International Journal of Molecular Sciences, Vol 21, Iss 2710, p 2710 (2020)
International Journal of Molecular Sciences, Vol 21, Iss 2710, p 2710 (2020)
Proteoglycans (PGs) are macromolecules present on the cell surface and in the extracellular matrix that confer specific mechanical, biochemical, and physical properties to tissues. Sulfate groups present on glycosaminoglycans, linear polysaccharide c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::274618e78cbe5331b84bae36516b7bc8
https://pubmed.ncbi.nlm.nih.gov/32295296
https://pubmed.ncbi.nlm.nih.gov/32295296
Autor:
Andrea Superti-Furga, Mattia Capulli, Chiara Gramegna Tota, Antonio Maurizi, Luca Monti, Morgane Bourmaud, Chiara Paganini, Antonio Rossi, Antonella Forlino, Simona Villani, Martine Cohen-Solal, Anna Teti, Ilaria Monti
Publikováno v:
Biochemical Pharmacology. 185:114452
Diastrophic dysplasia (DTD) is a recessive chondrodysplasia caused by mutations in the SLC26A2 gene encoding for a sulfate/chloride transporter. When SLC26A2 is impaired intracellular level of sulfate is reduced leading to the synthesis of undersulfa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::78f1a4d3368b69d0acd97f0a1ac9bfab
https://doi.org/10.1016/j.bcp.2021.114452
https://doi.org/10.1016/j.bcp.2021.114452