Huizing M - Search Results

1

UDP-GlcNAc 2-Epimerase/ManNAc Kinase (GNE): A Master Regulator of Sialic Acid Synthesis.

Hinderlich S, Weidemann W, Yardeni T, Horstkorte R, Huizing M. Hinderlich S, et al. Among authors: huizing m. Top Curr Chem. 2015;366:97-137. doi: 10.1007/128_2013_464. Top Curr Chem. 2015. PMID: 23842869 Free PMC article. Review.

2

Molecular modeling of the bifunctional enzyme UDP-GlcNAc 2-epimerase/ManNAc kinase and predictions of structural effects of mutations associated with HIBM and sialuria.

Kurochkina N, Yardeni T, Huizing M. Kurochkina N, et al. Among authors: huizing m. Glycobiology. 2010 Mar;20(3):322-37. doi: 10.1093/glycob/cwp176. Epub 2009 Nov 16. Glycobiology. 2010. PMID: 19917666 Free PMC article.

3

Murine isoforms of UDP-GlcNAc 2-epimerase/ManNAc kinase: Secondary structures, expression profiles, and response to ManNAc therapy.

Yardeni T, Jacobs K, Niethamer TK, Ciccone C, Anikster Y, Kurochkina N, Gahl WA, Huizing M. Yardeni T, et al. Among authors: huizing m. Glycoconj J. 2013 Aug;30(6):609-18. doi: 10.1007/s10719-012-9459-1. Epub 2012 Dec 25. Glycoconj J. 2013. PMID: 23266873 Free PMC article.

4

Identification, tissue distribution, and molecular modeling of novel human isoforms of the key enzyme in sialic acid synthesis, UDP-GlcNAc 2-epimerase/ManNAc kinase.

Yardeni T, Choekyi T, Jacobs K, Ciccone C, Patzel K, Anikster Y, Gahl WA, Kurochkina N, Huizing M. Yardeni T, et al. Among authors: huizing m. Biochemistry. 2011 Oct 18;50(41):8914-25. doi: 10.1021/bi201050u. Epub 2011 Sep 19. Biochemistry. 2011. PMID: 21910480 Free PMC article.

5

Oral monosaccharide therapies to reverse renal and muscle hyposialylation in a mouse model of GNE myopathy.

Niethamer TK, Yardeni T, Leoyklang P, Ciccone C, Astiz-Martinez A, Jacobs K, Dorward HM, Zerfas PM, Gahl WA, Huizing M. Niethamer TK, et al. Among authors: huizing m. Mol Genet Metab. 2012 Dec;107(4):748-55. doi: 10.1016/j.ymgme.2012.10.011. Epub 2012 Oct 18. Mol Genet Metab. 2012. PMID: 23122659 Free PMC article.

6

Non-specific accumulation of glycosphingolipids in GNE myopathy.

Patzel KA, Yardeni T, Le Poëc-Celic E, Leoyklang P, Dorward H, Alonzi DS, Kukushkin NV, Xu B, Zhang Y, Sollogoub M, Blériot Y, Gahl WA, Huizing M, Butters TD. Patzel KA, et al. Among authors: huizing m. J Inherit Metab Dis. 2014 Mar;37(2):297-308. doi: 10.1007/s10545-013-9655-6. Epub 2013 Oct 18. J Inherit Metab Dis. 2014. PMID: 24136589 Free PMC article.

7

Hereditary inclusion body myopathy: single patient response to intravenous dosing of GNE gene lipoplex.

Nemunaitis G, Jay CM, Maples PB, Gahl WA, Huizing M, Yardeni T, Tong AW, Phadke AP, Pappen BO, Bedell C, Allen H, Hernandez C, Templeton NS, Kuhn J, Senzer N, Nemunaitis J. Nemunaitis G, et al. Among authors: huizing m. Hum Gene Ther. 2011 Nov;22(11):1331-41. doi: 10.1089/hum.2010.192. Epub 2011 Apr 25. Hum Gene Ther. 2011. PMID: 21517694 Free PMC article.

8

The Gne M712T mouse as a model for human glomerulopathy.

Kakani S, Yardeni T, Poling J, Ciccone C, Niethamer T, Klootwijk ED, Manoli I, Darvish D, Hoogstraten-Miller S, Zerfas P, Tian E, Ten Hagen KG, Kopp JB, Gahl WA, Huizing M. Kakani S, et al. Among authors: huizing m. Am J Pathol. 2012 Apr;180(4):1431-40. doi: 10.1016/j.ajpath.2011.12.023. Epub 2012 Feb 7. Am J Pathol. 2012. PMID: 22322304 Free PMC article.

9

Sialylation of Thomsen-Friedenreich antigen is a noninvasive blood-based biomarker for GNE myopathy.

Leoyklang P, Malicdan MC, Yardeni T, Celeste F, Ciccone C, Li X, Jiang R, Gahl WA, Carrillo-Carrasco N, He M, Huizing M. Leoyklang P, et al. Among authors: huizing m. Biomark Med. 2014;8(5):641-52. doi: 10.2217/bmm.14.2. Biomark Med. 2014. PMID: 25123033 Free PMC article.

10

Rationale and Design for a Phase 1 Study of N-Acetylmannosamine for Primary Glomerular Diseases.

Huizing M, Yardeni T, Fuentes F, Malicdan MCV, Leoyklang P, Volkov A, Dekel B, Brede E, Blake J, Powell A, Chatrathi H, Anikster Y, Carrillo N, Gahl WA, Kopp JB. Huizing M, et al. Kidney Int Rep. 2019 Jun 25;4(10):1454-1462. doi: 10.1016/j.ekir.2019.06.012. eCollection 2019 Oct. Kidney Int Rep. 2019. PMID: 31701055 Free PMC article.

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