Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Silvia González-Perrett"'
Autor:
Silvia González-Perrett, Bernard Chasan, Horacio F. Cantiello, Nicolas Montalbetti, Wolfgang H. Goldmann, Malay K. Raychowdhury, Gustavo A. Timpanaro
Publikováno v:
Pflügers Archiv - European Journal of Physiology. 451:304-312
Mucolipidosis type IV (MLIV) is a rare, neurogenetic disorder characterized by developmental abnormalities of the brain, and impaired neurological, ophthalmological, and gastric function. Considered a lysosomal disease, MLIV is characterized by the a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::51206f602c6f4edfd41e78a6daa1fd01
https://doi.org/10.1007/s00424-005-1448-9
https://doi.org/10.1007/s00424-005-1448-9
Autor:
Qiang Li, Silvia González-Perrett, Horacio F. Cantiello, Nicolas Montalbetti, Jimena Semprine, Xing-Zhen Chen
Publikováno v:
Pflügers Archiv - European Journal of Physiology. 451:294-303
Polycystin-2 (PC2), one of the gene products whose mutations cause autosomal dominant polycystic kidney disease is a transient receptor potential (TRP)-type (TRPP2) Ca(2+)-permeable, non-selective cation channel. PC2 is localized in the plasma membra
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1150de0b8ebbe570b9fcfa3548b9708e
https://doi.org/10.1007/s00424-005-1458-7
https://doi.org/10.1007/s00424-005-1458-7
Autor:
Horacio F. Cantiello, Xiao-Qing Dai, Silvia González-Perrett, Xing-Zhen Chen, Gustavo A. Timpanaro, Qiang Li, Nicolas Montalbetti
Publikováno v:
The Journal of Physiology. 566:309-325
The human syncytiotrophoblast (hST) is the most apical epithelial barrier that covers the villous tree of the human placenta. An intricate and highly organized network of cytoskeletal structures supports the hST. Recently, polycystin-2 (PC2), a TRP-t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::dcfa2790b2caad7a02cd1b44f4115bdd
https://doi.org/10.1113/jphysiol.2005.087072
https://doi.org/10.1113/jphysiol.2005.087072
Autor:
Nicolás Moltabetti, Marisa Batelli, M. Amin Arnaout, Keetae Kim, Ignacio L. Reisin, Gustavo A. Timpanaro, Silvia González-Perrett, Makram Essafi, Horacio F. Cantiello
Publikováno v:
Journal of Biological Chemistry. 277:24959-24966
Polycystin-2, the product of the human PKD2 gene, whose mutations cause autosomal dominant polycystic kidney disease, is a large conductance, Ca(2+)-permeable non-selective cation channel. Polycystin-2 is functionally expressed in the apical membrane
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb98482feab5709afc7b9b3cedb9a5b4
https://doi.org/10.1074/jbc.m105084200
https://doi.org/10.1074/jbc.m105084200
Autor:
I. L. Reisin, Elsa Zotta, Silvia González-Perrett, Marisa Batelli, Keetae Kim, Peter C. Harris, Horacio F. Cantiello, Cristina Ibarra, Alicia E. Damiano, M. Amin Arnaout
Publikováno v:
Proceedings of the National Academy of Sciences. 98:1182-1187
Defects in polycystin-2, a ubiquitous transmembrane glycoprotein of unknown function, is a major cause of autosomal dominant polycystic kidney disease (ADPKD), whose manifestation entails the development of fluid-filled cysts in target organs. Here,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0e9e50a5931aa43611711b64bf4275bc
https://doi.org/10.1073/pnas.98.3.1182
https://doi.org/10.1073/pnas.98.3.1182
Autor:
Arnolt J. Ramos, Peng Zhang, Bernard Chasan, Silvia González-Perrett, Nicolás Montalbetti, Ying Luo, Gustavo A. Timpanaro, Jing Zhou, Wolfgang H. Goldmann, Horacio F. Cantiello, María del Rocío Cantero
Polycystin-2 (PC2, TRPP2), the gene product of PKD2, whose mutations cause autosomal dominant polycystic kidney disease (ADPKD), belongs to the superfamily of TRP channels. PC2 is a non-selective cation channel, with multiple subconductance states. I
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e70da1e7eea7b7e9790433154991f622
https://europepmc.org/articles/PMC2722194/
https://europepmc.org/articles/PMC2722194/
Autor:
Nicolás, Montalbetti, Qiang, Li, Gustavo A, Timpanaro, Silvia, González-Perrett, Xiao-Qing, Dai, Xing-Zhen, Chen, Horacio F, Cantiello
Publikováno v:
The Journal of physiology. 566(Pt 2)
The human syncytiotrophoblast (hST) is the most apical epithelial barrier that covers the villous tree of the human placenta. An intricate and highly organized network of cytoskeletal structures supports the hST. Recently, polycystin-2 (PC2), a TRP-t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::0501568f826a3aabe252bbec7325682d
https://pubmed.ncbi.nlm.nih.gov/15845576
https://pubmed.ncbi.nlm.nih.gov/15845576
Autor:
Stefanie Stahl, Malay K. Raychowdhury, Ehud Goldin, Adele Cooney, Wolfgang H. Goldmann, Bernard Chasan, Gustavo A. Timpanaro, Horacio F. Cantiello, Nicolas Montalbetti, Silvia González-Perrett
Publikováno v:
Human molecular genetics. 13(6)
Mucolipidosis type IV (MLIV) is an autosomal recessive neurogenetic disorder characterized by developmental abnormalities of the brain and impaired neurological, ophthalmologic and gastric function. Large vacuoles accumulate in various types of cells
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4863f5045eb86586fbd926aaaa59397f
https://pubmed.ncbi.nlm.nih.gov/14749347
https://pubmed.ncbi.nlm.nih.gov/14749347
Autor:
G. Mark Xu, Silvia González-Perrett, Horacio F. Cantiello, Gustavo A. Timpanaro, Nicolas Montalbetti, M. Amin Arnaout, Makram Essafi
Publikováno v:
The Journal of biological chemistry. 278(3)
Autosomal dominant polycystic kidney disease (ADPKD) is a prevalent genetic disorder largely caused by mutations in the PKD1 and PKD2 genes that encode the transmembrane proteins polycystin-1 and -2, respectively. Both proteins appear to be involved
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::465a10844d12b18dca3b16288d4eea76
https://pubmed.ncbi.nlm.nih.gov/12407099
https://pubmed.ncbi.nlm.nih.gov/12407099