| 1 | ALG12, ALG3, CDG1A, CDG1B, CDG1D, CDG1G, CDG1J, CDG2B, DPAGT1, MOGS, MPI, PMM2
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| Mitotic Intragenic Recombination: A Mechanism of Survival for Several Congenital Disorders of Glycosylation.
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| Kane MS, Davids M, Adams C, Wolfe LA, Cheung HW, Gropman A, Huang Y; NISC Comparative Sequencing Program, Ng BG, Freeze HH, Adams DR, Gahl WA, Boerkoel CF.
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| Am J Hum Genet 98(2):339-46. doi: 10.1016/j.ajhg.2015.12.007. Epub 2016 Jan 21.
2016
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| 2 | CMSTA2, DPAGT1
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| Clinical features in a large Iranian family with a limb-girdle congenital myasthenic syndrome due to a mutation in DPAGT1.
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| Basiri K, Belaya K, Liu WW, Maxwell S, Sedghi M, Beeson D.
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| Neuromuscul Disord 23(6):469-72. doi: 10.1016/j.nmd.2013.03.003. Epub 2013 Apr 13.
2013
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| 3 | CMSTA2, DPAGT1
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| Clinical features of congenital myasthenic syndrome due to mutations in DPAGT1.
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| Finlayson S, Palace J, Belaya K, Walls TJ, Norwood F, Burke G, Holton JL, Pascual-Pascual SI, Cossins J, Beeson D.
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| J Neurol Neurosurg Psychiatry 84(10):1119-25. doi: 10.1136/jnnp-2012-304716. Epub 2013 Feb 27.
2013
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| 4 | CDG1J, DPAGT1
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| A compound heterozygous mutation in DPAGT1 results in a congenital disorder of glycosylation with a relatively mild phenotype.
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| Iqbal Z, Shahzad M, Vissers LE, van Scherpenzeel M, Gilissen C, Razzaq A, Zahoor MY, Khan SN, Kleefstra T, Veltman JA, de Brouwer AP, Lefeber DJ, van Bokhoven H, Riazuddin S.
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| Eur J Hum Genet 21(8):844-9. doi: 10.1038/ejhg.2012.257. Epub 2012 Dec 19.
2013
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| 5 | CMSTA1, CMSTA2, DPAGT1, GFPT1
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| Mutations in DPAGT1 Cause a Limb-Girdle Congenital Myasthenic Syndrome with Tubular Aggregates.
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| Belaya K, Finlayson S, Slater CR, Cossins J, Liu WW, Maxwell S, McGowan SJ, Maslau S, Twigg SR, Walls TJ, Pascual Pascual SI, Palace J, Beeson D.
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| Am J Hum Genet 91(1):193-201. Epub 2012 Jun 27.
2012
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| 6 | CMSTA2, DPAGT1
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| Identification of DPAGT1 as a new gene in which mutations cause a congenital myasthenic syndrome.
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| Belaya K, Finlayson S, Cossins J, Liu WW, Maxwell S, Palace J, Beeson D.
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| Ann N Y Acad Sci 1275:29-35. doi: 10.1111/j.1749-6632.2012.06790.x.
2012
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| 7 | CDG1J, DPAGT1
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| Further Delineation of the Phenotype of Congenital Disorder of Glycosylation DPAGT1-CDG (CDG-Ij) Identified by Homozygosity Mapping.
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| Imtiaz F, Al-Mostafa A, Al-Hassnan ZN.
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| JIMD Rep 2:107-11. doi: 10.1007/8904_2011_57. Epub 2011 Sep 6.
2012
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| 8 | DPAGT1
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| Aberrant amplification of the crosstalk between canonical Wnt signaling and N-glycosylation gene DPAGT1 promotes oral cancer.
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| Jamal B, Sengupta PK, Gao ZN, Nita-Lazar M, Amin B, Jalisi S, Bouchie MP, Kukuruzinska MA.
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| Oral Oncol 48(6):523-9. doi: 10.1016/j.oraloncology.2012.01.010. Epub 2012 Feb 15.
2012
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| 9 | DPAGT1, JUP
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| N-glycosylation gene DPAGT1 is a target of the Wnt/beta-catenin signaling pathway.
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| Sengupta PK, Bouchie MP, Kukuruzinska MA.
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| J Biol Chem 285(41):31164-73. Epub 2010 Aug 6. 2010
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| 10 | DPAGT1
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| Overexpression of DPAGT1 leads to aberrant N-glycosylation of E-cadherin and cellular discohesion in oral cancer.
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| Nita-Lazar M, Noonan V, Rebustini I, Walker J, Menko AS, Kukuruzinska MA.
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| Cancer Res 69(14):5673-80. Epub 2009 Jun 23.
2009
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| 11 | DPAGT1
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| Structure, expression, and regulation of UDP-GlcNAc: dolichol phosphate GlcNAc-1-phosphate transferase (DPAGT1).
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| Bretthauer RK.
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| Curr Drug Targets 10(6):477-82. Review.
2009
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| 12 | ALG1, ALG12, ALG2, ALG3, ALG6, ALG8, ALG9, CDG1A, CDG1B, CDG1C, CDG1D, CDG1E, CDG1F, CDG1G, CDG1H, CDG1I, CDG1J, CDG1K, CDG1L, CDG1N, CDG1O, DK1D, DOLK, DPAGT1, DPM1, DPM3, MPDU1, MPI, PMM2, RFT1
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| Congenital disorders of glycosylation: An update on defects affecting the biosynthesis of dolichol-linked oligosaccharides.
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| Haeuptle MA, Hennet T.
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| Hum Mutat um Mutat. 2009 Oct 27. [Epub ahead of print] 2009
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| 13 | ALG1, ALG12, ALG2, ALG3, ALG6, ALG8, ALG9, CDG1A, CDG1B, CDG1C, CDG1D, CDG1E, CDG1F, CDG1G, CDG1H, CDG1I, CDG1J, CDG1K, CDG1L, CDG2A, CDG2B, CDG2E, CDG2G, CDG2H, COG1, COG7, COG8, DPAGT1, DPM1, MGAT2, MOGS, MPDU1, MPI, PMM2
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| Congenital disorders of N-glycosylation including diseases associated with O- as well as N-glycosylation defects.
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| Leroy JG.
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| Pediatr Res 60(6):643-56. Epub 2006 Oct 25. 2006
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| 14 | CDG1J, DPAGT1
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| Deficiency of UDP-GlcNAc:Dolichol Phosphate N-Acetylglucosamine-1 Phosphate Transferase (DPAGT1) Causes a Novel Congenital Disorder of Glycosylation Type Ij.
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| Wu X, Rush JS, Karaoglu D, Krasnewich D, Lubinsky MS, Waechter CJ, Gilmore R, Freeze HH.
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| Hum Mutat 22(2):144-50. 2003
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| 15 | DPAGT1
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| Genomic structure of the human UDP-GlcNAc:dolichol-P GlcNAc-1-P transferase gene.
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| Regis S, Dagnino F, Caroli F, Filocamo M.
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| DNA Seq 13(5):245-50. 2002
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| 16 | DPAGT1, SSRP1
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| A sequence-tagged site map of human chromosome 11.
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| Smith MW, Clark SP, Hutchinson JS, Wei YH, Churukian AC, Daniels LB, Diggle KL, Gen MW, Romo AJ, Lin Y, et al.
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| Genomics 17 : 699-725. 1993
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