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Items: 3

1.
Cystic kidneys in fetal Walker-Warburg Syndrome with POMT2 mutation: Intrafamilial phenotypic variability in four siblings and review of literature
Marwa M. Nabhan, Nour ElKhateeb, Daniela A. Braun, Sungho Eun, Sahar N. Saleem, Heon Yung Gee, Friedhelm Hildebrandt, Neveen A. Soliman
Am J Med Genet A. Author manuscript; available in PMC 2018 Oct 30.
Published in final edited form as: Am J Med Genet A. 2017 Oct; 173(10): 2697–2702. Published online 2017 Aug 17. doi: 10.1002/ajmg.a.38393
PMCID:
PMC6205885
AbstractArticlePDF–533K
2.
Mammalian O-mannosylation of cadherins and plexins is independent of protein O-mannosyltransferases 1 and 2
Ida Signe Bohse Larsen, Yoshiki Narimatsu, Hiren Jitendra Joshi, Zhang Yang, Oliver J. Harrison, Julia Brasch, Lawrence Shapiro, Barry Honig, Sergey Y. Vakhrushev, Henrik Clausen, Adnan Halim
J Biol Chem. 2017 Jul 7; 292(27): 11586–11598. Published online 2017 May 16. doi: 10.1074/jbc.M117.794487
PMCID:
PMC5500819
AbstractArticlePDF–1.7M
3.
Demonstration of mammalian protein O-mannosyltransferase activity: Coexpression of POMT1 and POMT2 required for enzymatic activity
Hiroshi Manya, Atsuro Chiba, Aruto Yoshida, Xiaohui Wang, Yasunori Chiba, Yoshifumi Jigami, Richard U. Margolis, Tamao Endo
Proc Natl Acad Sci U S A. 2004 Jan 13; 101(2): 500–505. Published online 2003 Dec 29. doi: 10.1073/pnas.0307228101
PMCID:
PMC327176
AbstractArticlePDF–389K

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