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Gustavo A Timpanaro

Explore the profile of Gustavo A Timpanaro including associated specialties, affiliations and a list of published articles. Areas
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Articles 5
Citations 184
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Recent Articles
1.
Zhang P, Luo Y, Chasan B, Gonzalez-Perrett S, Montalbetti N, Timpanaro G, et al.
Hum Mol Genet . 2009 Feb; 18(7):1238-51. PMID: 19193631
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,...
2.
Cantiello H, Montalbetti N, Goldmann W, Raychowdhury M, Gonzalez-Perrett S, Timpanaro G, et al.
Pflugers Arch . 2005 Sep; 451(1):304-12. PMID: 16133264
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...
3.
Montalbetti N, Li Q, Timpanaro G, Gonzalez-Perrett S, Dai X, Chen X, et al.
J Physiol . 2005 Apr; 566(Pt 2):309-25. PMID: 15845576
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...
4.
Raychowdhury M, Gonzalez-Perrett S, Montalbetti N, Timpanaro G, Chasan B, Goldmann W, et al.
Hum Mol Genet . 2004 Jan; 13(6):617-27. PMID: 14749347
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...
5.
Xu G, Gonzalez-Perrett S, Essafi M, Timpanaro G, Montalbetti N, Arnaout M, et al.
J Biol Chem . 2002 Oct; 278(3):1457-62. PMID: 12407099
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....