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Year Number of Results
2001 1
2002 3
2003 1
2014 1
2015 1
2016 2
2017 3
2019 1
2020 1
2024 0

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PubMed for id: 1890341729

10 results

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Page 1
Insights in the etiopathology of galactosyltransferase II (GalT-II) deficiency from transcriptome-wide expression profiling of skin fibroblasts of two sisters with compound heterozygosity for two novel B3GALT6 mutations.
Ritelli M, Chiarelli N, Zoppi N, Dordoni C, Quinzani S, Traversa M, Venturini M, Calzavara-Pinton P, Colombi M. Ritelli M, et al. Mol Genet Metab Rep. 2014 Nov 20;2:1-15. doi: 10.1016/j.ymgmr.2014.11.005. eCollection 2015 Mar. Mol Genet Metab Rep. 2014. PMID: 28649518 Free PMC article.
Chondroitin Sulfate N-acetylgalactosaminyltransferase-1 (CSGalNAcT-1) Deficiency Results in a Mild Skeletal Dysplasia and Joint Laxity.
Vodopiutz J, Mizumoto S, Lausch E, Rossi A, Unger S, Janocha N, Costantini R, Seidl R, Greber-Platzer S, Yamada S, Müller T, Jilma B, Ganger R, Superti-Furga A, Ikegawa S, Sugahara K, Janecke AR. Vodopiutz J, et al. Hum Mutat. 2017 Jan;38(1):34-38. doi: 10.1002/humu.23070. Epub 2016 Sep 22. Hum Mutat. 2017. PMID: 27599773
Differential roles of two N-acetylgalactosaminyltransferases, CSGalNAcT-1, and a novel enzyme, CSGalNAcT-2. Initiation and elongation in synthesis of chondroitin sulfate.
Sato T, Gotoh M, Kiyohara K, Akashima T, Iwasaki H, Kameyama A, Mochizuki H, Yada T, Inaba N, Togayachi A, Kudo T, Asada M, Watanabe H, Imamura T, Kimata K, Narimatsu H. Sato T, et al. J Biol Chem. 2003 Jan 31;278(5):3063-71. doi: 10.1074/jbc.M208886200. Epub 2002 Nov 20. J Biol Chem. 2003. PMID: 12446672 Free article.
Enzymatic synthesis of chondroitin with a novel chondroitin sulfate N-acetylgalactosaminyltransferase that transfers N-acetylgalactosamine to glucuronic acid in initiation and elongation of chondroitin sulfate synthesis.
Gotoh M, Sato T, Akashima T, Iwasaki H, Kameyama A, Mochizuki H, Yada T, Inaba N, Zhang Y, Kikuchi N, Kwon YD, Togayachi A, Kudo T, Nishihara S, Watanabe H, Kimata K, Narimatsu H. Gotoh M, et al. J Biol Chem. 2002 Oct 11;277(41):38189-96. doi: 10.1074/jbc.M203619200. Epub 2002 Aug 5. J Biol Chem. 2002. PMID: 12163485 Free article.