The skeletal effect of post-natal treatment with N-acetylcysteine in a diastrophic dysplasia mouse model

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

Testing the Cre-mediated genetic switch for the generation of conditional knock-in mice.

Autor: Mattia Capulli, Rossella Costantini, Stephan Sonntag, Antonio Maurizi, Chiara Paganini, Luca Monti, Antonella Forlino, Doron Shmerling, Anna Teti, Antonio Rossi

Publikováno v: PLoS ONE, Vol 14, Iss 3, p e0213660 (2019)

The Cre-mediated genetic switch combines the ability of Cre recombinase to stably invert or excise a DNA fragment depending upon the orientation of flanking mutant loxP sites. In this work, we have tested this strategy in vivo with the aim to generat

Externí odkaz: https://doaj.org/article/e2956b0ee85849c0bafe31a68df845d8

Impaired proteoglycan glycosylation, elevated TGF-β signaling, and abnormal osteoblast differentiation as the basis for bone fragility in a mouse model for gerodermia osteodysplastica.

Autor: Wing Lee Chan, Magdalena Steiner, Tomasz Witkos, Johannes Egerer, Björn Busse, Shuji Mizumoto, Jan M Pestka, Haikuo Zhang, Ingrid Hausser, Layal Abo Khayal, Claus-Eric Ott, Mateusz Kolanczyk, Bettina Willie, Thorsten Schinke, Chiara Paganini, Antonio Rossi, Kazuyuki Sugahara, Michael Amling, Petra Knaus, Danny Chan, Martin Lowe, Stefan Mundlos, Uwe Kornak

Publikováno v: PLoS Genetics, Vol 14, Iss 3, p e1007242 (2018)

Gerodermia osteodysplastica (GO) is characterized by skin laxity and early-onset osteoporosis. GORAB, the responsible disease gene, encodes a small Golgi protein of poorly characterized function. To circumvent neonatal lethality of the GorabNull full

Externí odkaz: https://doaj.org/article/d57661c1748c402db63c5dbeb8b9b7d0

Analysis of Aggrecan Glycanation by Western Blot in Cell Culture

Autor: Chiara Gramegna Tota, Alessandra Leone, Antonio Rossi, Chiara Paganini

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

Biallelic variants in the SLC13A1 sulfate transporter gene cause hyposulfatemia with a mild spondylo-epi-metaphyseal dysplasia

Autor: Jiddeke M. van de Kamp, Arend Bökenkamp, Desiree E. C. Smith, Mirjam M. C. Wamelink, Erwin E. W. Jansen, Eduard A. Struys, Quinten Waisfisz, Marieke Verkleij, Michaela F. Hartmann, Rong Wang, Stefan A. Wudy, Chiara Paganini, Antonio Rossi, Martijn J. J. Finken

Publikováno v: van de Kamp, J M, Bökenkamp, A, Smith, D E C, Wamelink, M M C, Jansen, E E W, Struys, E A, Waisfisz, Q, Verkleij, M, Hartmann, M F, Wang, R, Wudy, S A, Paganini, C, Rossi, A & Finken, M J J 2023, ' Biallelic variants in the SLC13A1 sulfate transporter gene cause hyposulfatemia with a mild spondylo-epi-metaphyseal dysplasia ', Clinical Genetics, vol. 103, no. 1, pp. 45-52 . https://doi.org/10.1111/cge.14239
Clinical Genetics, 103(1), 45-52. Wiley-Blackwell

Sulfate is the fourth most abundant anion in human plasma but is not measured in clinical practice and little is known about the consequences of sulfate deficiency. Nevertheless, sulfation plays an essential role in the modulation of numerous compoun

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::38f912b4df94fea3356cb682c253b22d
https://pubmed.ncbi.nlm.nih.gov/36175384