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EOGT and O-GlcNAc on secreted and membrane proteins.
Varshney S, Stanley P. Varshney S, et al. Biochem Soc Trans. 2017 Apr 15;45(2):401-408. doi: 10.1042/BST20160165. Biochem Soc Trans. 2017. PMID: 28408480 Free PMC article. Review.
EOGT and OGT are in separate cellular compartments and have mostly distinct substrates, although both can act on cytoplasmic (OGT) and lumenal (EOGT) domains of transmembrane proteins. The present review will describe known substrates of EOGT and biological r …
EOGT and OGT are in separate cellular compartments and have mostly distinct substrates, although both can act on cytoplasmic (OGT) an …
Bioinformatics and Functional Analyses Implicate Potential Roles for EOGT and L-fringe in Pancreatic Cancers.
Barua R, Mizuno K, Tashima Y, Ogawa M, Takeuchi H, Taguchi A, Okajima T. Barua R, et al. Molecules. 2021 Feb 7;26(4):882. doi: 10.3390/molecules26040882. Molecules. 2021. PMID: 33562410 Free PMC article.
EOGT expression is significantly increased in the basal subtype, and low expression of both EOGT and LFNG predicts better overall survival in PDAC patients. These results imply potential roles for EOGT- and LFNG-dependent Notch signaling in PDAC....
EOGT expression is significantly increased in the basal subtype, and low expression of both EOGT and LFNG predicts better over …
N-Glycans on EGF domain-specific O-GlcNAc transferase (EOGT) facilitate EOGT maturation and peripheral endoplasmic reticulum localization.
Alam SMD, Tsukamoto Y, Ogawa M, Senoo Y, Ikeda K, Tashima Y, Takeuchi H, Okajima T. Alam SMD, et al. J Biol Chem. 2020 Jun 19;295(25):8560-8574. doi: 10.1074/jbc.RA119.012280. Epub 2020 May 6. J Biol Chem. 2020. PMID: 32376684 Free PMC article.
Several EOGT mutations that may affect putative N-glycosylation consensus sites are recorded in the cancer database, but the presence and function of N-glycans in EOGT have not yet been characterized. Here, we identified N-glycosylation sites in mouse EOGT an …
Several EOGT mutations that may affect putative N-glycosylation consensus sites are recorded in the cancer database, but the presence …
Intracellular and extracellular O-linked N-acetylglucosamine in the nervous system.
Ogawa M, Sawaguchi S, Kamemura K, Okajima T. Ogawa M, et al. Exp Neurol. 2015 Dec;274(Pt B):166-74. doi: 10.1016/j.expneurol.2015.08.009. Epub 2015 Aug 14. Exp Neurol. 2015. PMID: 26278182 Review.
To date, O-GlcNAcylations have been divided into two categories: the first involves nucleocytoplasmic and mitochondrial (intracellular) O-GlcNAcylation catalyzed by O-GlcNAc transferase (OGT), and the second involves O-GlcNAcylation in the secretory pathways (extracellular) catal …
To date, O-GlcNAcylations have been divided into two categories: the first involves nucleocytoplasmic and mitochondrial (intracellular) O-Gl …
The Glycosyltransferase EOGT Regulates Adropin Expression in Decidualizing Human Endometrium.
Muter J, Alam MT, Vrljicak P, Barros FSV, Ruane PT, Ewington LJ, Aplin JD, Westwood M, Brosens JJ. Muter J, et al. Endocrinology. 2018 Feb 1;159(2):994-1004. doi: 10.1210/en.2017-03064. Endocrinology. 2018. PMID: 29244071
Knockdown of EOGT perturbed a network of decidual genes involved in multiple cellular functions. The most downregulated gene upon EOGT knockdown in decidualizing cells was the energy homeostasis-associated gene (ENHO), which encodes adropin, a metabolic hormone invo …
Knockdown of EOGT perturbed a network of decidual genes involved in multiple cellular functions. The most downregulated gene upon …
Expanding the phenotype in Adams-Oliver syndrome correlating with the genotype.
Dudoignon B, Huber C, Michot C, Di Rocco F, Girard M, Lyonnet S, Rio M, Rabia SH, Daire VC, Baujat G. Dudoignon B, et al. Am J Med Genet A. 2020 Jan;182(1):29-37. doi: 10.1002/ajmg.a.61364. Epub 2019 Oct 25. Am J Med Genet A. 2020. PMID: 31654484
TTLD is present in patients with DOCK6 and EOGT alterations. Neurological findings of variable degree were associated sometimes with DOCK6 and NOTCH1 rarely with EOGT. ...
TTLD is present in patients with DOCK6 and EOGT alterations. Neurological findings of variable degree were associated sometimes with …
Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort.
Meester JAN, Sukalo M, Schröder KC, Schanze D, Baynam G, Borck G, Bramswig NC, Duman D, Gilbert-Dussardier B, Holder-Espinasse M, Itin P, Johnson DS, Joss S, Koillinen H, McKenzie F, Morton J, Nelle H, Reardon W, Roll C, Salih MA, Savarirayan R, Scurr I, Splitt M, Thompson E, Titheradge H, Travers CP, Van Maldergem L, Whiteford M, Wieczorek D, Vandeweyer G, Trembath R, Van Laer L, Loeys BL, Zenker M, Southgate L, Wuyts W. Meester JAN, et al. Hum Mutat. 2018 Sep;39(9):1246-1261. doi: 10.1002/humu.23567. Epub 2018 Jul 4. Hum Mutat. 2018. PMID: 29924900 Free PMC article.
Autosomal dominant forms of AOS are linked to mutations in ARHGAP31, DLL4, NOTCH1 or RBPJ, while DOCK6 and EOGT underlie autosomal recessive inheritance. Data on the frequency and distribution of mutations in large cohorts are currently limited. ...NOTCH1 is the major cont …
Autosomal dominant forms of AOS are linked to mutations in ARHGAP31, DLL4, NOTCH1 or RBPJ, while DOCK6 and EOGT underlie autosomal re …
Adams-Oliver syndrome caused by mutations of the EOGT gene.
Schröder KC, Duman D, Tekin M, Schanze D, Sukalo M, Meester J, Wuyts W, Zenker M. Schröder KC, et al. Am J Med Genet A. 2019 Nov;179(11):2246-2251. doi: 10.1002/ajmg.a.61313. Epub 2019 Jul 31. Am J Med Genet A. 2019. PMID: 31368252
Recessive inheritance is associated with mutations of DOCK6 or EOGT; however, only few cases have been published so far. We present two families with EOGT-associated AOS. ...Our observations along with the previously published cases indicate that the two types of re …
Recessive inheritance is associated with mutations of DOCK6 or EOGT; however, only few cases have been published so far. We present t …
Adams-Oliver syndrome review of the literature: Refining the diagnostic phenotype.
Hassed S, Li S, Mulvihill J, Aston C, Palmer S. Hassed S, et al. Am J Med Genet A. 2017 Mar;173(3):790-800. doi: 10.1002/ajmg.a.37889. Epub 2017 Feb 4. Am J Med Genet A. 2017. PMID: 28160419 Review.
Six causative genes have been identified: ARHGAP31, DOCK6, EOGT, RBPJ, NOTCH1, and DLL4. We review 385 previously described individuals (139 non-familial and 246 familial probands and family members) and add clinical data on 13 previously unreported individuals with AOS. . …
Six causative genes have been identified: ARHGAP31, DOCK6, EOGT, RBPJ, NOTCH1, and DLL4. We review 385 previously described individua …
Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome.
Meester JA, Southgate L, Stittrich AB, Venselaar H, Beekmans SJ, den Hollander N, Bijlsma EK, Helderman-van den Enden A, Verheij JB, Glusman G, Roach JC, Lehman A, Patel MS, de Vries BB, Ruivenkamp C, Itin P, Prescott K, Clarke S, Trembath R, Zenker M, Sukalo M, Van Laer L, Loeys B, Wuyts W. Meester JA, et al. Am J Hum Genet. 2015 Sep 3;97(3):475-82. doi: 10.1016/j.ajhg.2015.07.015. Epub 2015 Aug 20. Am J Hum Genet. 2015. PMID: 26299364 Free PMC article.
Mutations in five genes have been identified as a cause for AOS prior to this report. Mutations in EOGT and DOCK6 cause autosomal-recessive AOS, whereas mutations in ARHGAP31, RBPJ, and NOTCH1 lead to autosomal-dominant AOS. Because RBPJ, NOTCH1, and EOGT are involv …
Mutations in five genes have been identified as a cause for AOS prior to this report. Mutations in EOGT and DOCK6 cause autosomal-rec …
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