Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Raquel de Pablo"'
Autor:
Cristiana Castaldo, Silvia Ciambellotti, Raquel de Pablo-Latorre, Daniela Lalli, Valentina Porcari, Paola Turano
Publikováno v:
PLoS ONE, Vol 8, Iss 8, p e71657 (2013)
Recombinant human Glutaminyl Cyclase expressed in E. coli is produced as inclusion bodies. Lack of glycosylation is the main origin of its accumulation in insoluble aggregates. Mutation of single isolated hydrophobic amino acids into negative amino a
Externí odkaz:
https://doaj.org/article/08b72f1f483a4db7a361c7e1338f8eac
Autor:
Raquel de Pablo-Latorre, Elena V. Polishhuck, Edoardo Nusco, Assunta Saide, Alessandro Fraldi, Andrea Ballabio
Publikováno v:
Human Molecular Genetics
Human Molecular Genetics; Vol 21
Human Molecular Genetics; Vol 21
Dysfunctional mitochondria are a well-known disease hallmark. The accumulation of aberrant mitochondria can alter cell homeostasis, thus resulting in tissue degeneration. Lysosomal storage disorders (LSDs) are a group of inherited diseases characteri
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::293fd9ab59214805324e7bc882b0ee23
https://pubmed.ncbi.nlm.nih.gov/22215441
https://pubmed.ncbi.nlm.nih.gov/22215441
Autor:
Carlo Tacchetti, Consuelo Venturi, Raquel de Pablo, David C. Rubinsztein, Alessandro Fraldi, Carmine Spampanato, Diego L. Medina, Andrea Ballabio, Luca Jahreiss, Carmine Settembre
Publikováno v:
Human molecular genetics. 17(1)
Most lysosomal storage disorders (LSDs) are caused by deficiencies of lysosomal hydrolases. While LSDs were among the first inherited diseases for which the underlying biochemical defects were identified, the mechanisms from enzyme deficiency to cell
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f42fdfec11854349ec95f06132b6eb96
https://pubmed.ncbi.nlm.nih.gov/17913701
https://pubmed.ncbi.nlm.nih.gov/17913701
Autor:
Emilio Arteaga-Solis, Carmine Settembre, Gerard Karsenty, Raquel de Pablo, Andrea Ballabio, Marc D. McKee, Qais Al Awqati
Publikováno v:
Matrix Biology. 27:37
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c1c5a1902604266893f12e763bfaaf1c
https://doi.org/10.1016/j.matbio.2008.09.330
https://doi.org/10.1016/j.matbio.2008.09.330