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Items: 3

1.
Crystal Structure of the N-Acetylmannosamine Kinase Domain of GNE
Yufeng Tong, Wolfram Tempel, Lyudmila Nedyalkova, Farrell MacKenzie, Hee-Won Park
PLoS One. 2009; 4(10): e7165. Published online 2009 Oct 20. doi: 10.1371/journal.pone.0007165
PMCID:
PMC2742894
AbstractArticlePDF–863K
2.
Identification of an Alu element‐mediated deletion in the promoter region of GNE in siblings with GNE myopathy
Jennifer Garland, Joshi Stephen, Bradley Class, Angela Gruber, Carla Ciccone, Aaron Poliak, Christina P. Hayes, Vandana Singhal, Christina Slota, John Perreault, Ralitza Gavrilova, Joseph A. Shrader, Prashant Chittiboina, Galen Joe, John Heiss, William A. Gahl, Marjan Huizing, Nuria Carrillo, May Christine V. Malicdan
Mol Genet Genomic Med. 2017 Jul; 5(4): 410–417. Published online 2017 Jun 14. doi: 10.1002/mgg3.300
PMCID:
PMC5511805
AbstractArticlePDF–1.7M
3.
Identification, Tissue Distribution and Molecular Modeling of Novel Human Isoforms of the Key Enzyme in Sialic Acid Synthesis, UDP-GlcNAc 2-epimerase/ManNAc Kinase
Tal Yardeni, Tsering Choekyi, Katherine Jacobs, Carla Ciccone, Katherine Patzel, Yair Anikster, William A. Gahl, Natalya Kurochkina, Marjan Huizing
Biochemistry. Author manuscript; available in PMC 2012 Oct 18.
Published in final edited form as: Biochemistry. 2011 Oct 18; 50(41): 8914–8925. Published online 2011 Sep 19. doi: 10.1021/bi201050u
PMCID:
PMC3192532
AbstractArticlePDF–2.7M

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