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Year | Number of Results |
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2002 | 1 |
2007 | 1 |
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Sialylation is essential for early development in mice.
Proc Natl Acad Sci U S A. 2002 Apr 16;99(8):5267-70. doi: 10.1073/pnas.072066199. Epub 2002 Apr 2.
Proc Natl Acad Sci U S A. 2002.
PMID: 11929971
Free PMC article.
Mutation in the key enzyme of sialic acid biosynthesis causes severe glomerular proteinuria and is rescued by N-acetylmannosamine.
Galeano B, Klootwijk R, Manoli I, Sun M, Ciccone C, Darvish D, Starost MF, Zerfas PM, Hoffmann VJ, Hoogstraten-Miller S, Krasnewich DM, Gahl WA, Huizing M.
Galeano B, et al.
J Clin Invest. 2007 Jun;117(6):1585-94. doi: 10.1172/JCI30954.
J Clin Invest. 2007.
PMID: 17549255
Free PMC article.
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Glycoprotein hyposialylation gives rise to a nephrotic-like syndrome that is prevented by sialic acid administration in GNE V572L point-mutant mice.
Ito M, Sugihara K, Asaka T, Toyama T, Yoshihara T, Furuichi K, Wada T, Asano M.
Ito M, et al.
PLoS One. 2012;7(1):e29873. doi: 10.1371/journal.pone.0029873. Epub 2012 Jan 13.
PLoS One. 2012.
PMID: 22253810
Free PMC article.
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Variable phenotypes of knockin mice carrying the M712T Gne mutation.
Sela I, Yakovlev L, Becker Cohen M, Elbaz M, Yanay N, Ben Shlomo U, Yotvat H, Fellig Y, Argov Z, Mitrani-Rosenbaum S.
Sela I, et al.
Neuromolecular Med. 2013 Mar;15(1):180-91. doi: 10.1007/s12017-012-8209-7. Epub 2012 Dec 13.
Neuromolecular Med. 2013.
PMID: 23238814
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