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Select item 60444261.

Clinical features of congenital myasthenic syndrome due to mutations in DPAGT1

Sarah Finlayson, Jacqueline Palace, Katsiaryna Belaya, Timothy J Walls, Fiona Norwood, Georgina Burke, Janice L Holton, Samuel I Pascual-Pascual, Judith Cossins, David Beeson

J Neurol Neurosurg Psychiatry. Author manuscript; available in PMC 2018 Jul 13.

Published in final edited form as: J Neurol Neurosurg Psychiatry. 2013 Oct; 84(10): 1119–1125. Published online 2013 Feb 27. doi: 10.1136/jnnp-2012-304716

PMCID:: PMC6044426

Abstract Article PDF–522K

Select item 60444252.

Identification of DPAGT1 as a new gene in which mutations cause a congenital myasthenic syndrome

Katsiaryna Belaya, Sarah Finlayson, Judith Cossins, Wei Wei Liu, Susan Maxwell, Jacqueline Palace, David Beeson

Ann N Y Acad Sci. Author manuscript; available in PMC 2018 Jul 13.

Published in final edited form as: Ann N Y Acad Sci. 2012 Dec; 1275: 29–35. doi: 10.1111/j.1749-6632.2012.06790.x

PMCID:: PMC6044425

Abstract Article PDF–751K

Select item 54910103.

DPAGT1-CDG: Functional analysis of disease-causing pathogenic mutations and role of endoplasmic reticulum stress

Patricia Yuste-Checa, Ana I. Vega, Cristina Martín-Higueras, Celia Medrano, Alejandra Gámez, Lourdes R. Desviat, Magdalena Ugarte, Celia Pérez-Cerdá, Belén Pérez

PLoS One. 2017; 12(6): e0179456. Published online 2017 Jun 29. doi: 10.1371/journal.pone.0179456

PMCID:: PMC5491010

Abstract Article PDF–11M

Select item 46038274.

N-Acetylglucosaminyl 1-Phosphate Transferase: An Excellent Target for Developing New Generation Breast Cancer Therapeutic

Aditi Banerjee, Juan A. Martinez, Maria O. Longas, Zhenbo Zhang, Jesus Santiago, Krishna Baksi, Dipak K. Banerjee

Adv Exp Med Biol. Author manuscript; available in PMC 2015 Oct 13.

Published in final edited form as: Adv Exp Med Biol. 2015; 842: 355–374. doi: 10.1007/978-3-319-11280-0_22

PMCID:: PMC4603827

Abstract Article PDF–817K

Select item 37461545.

Clinical features in a large Iranian family with a limb-girdle congenital myasthenic syndrome due to a mutation in DPAGT1

Keivan Basiri, Katsiaryna Belaya, Wei Wei Liu, Susan Maxwell, Maryam Sedghi, David Beeson

Neuromuscul Disord. 2013 Jun; 23(6): 469–472. doi: 10.1016/j.nmd.2013.03.003

PMCID:: PMC3746154

Abstract Article PDF–487K

Select item 37226736.

A compound heterozygous mutation in DPAGT1 results in a congenital disorder of glycosylation with a relatively mild phenotype

Zafar Iqbal, Mohsin Shahzad, Lisenka E L M Vissers, Monique van Scherpenzeel, Christian Gilissen, Attia Razzaq, Muhammad Yasir Zahoor, Shaheen N Khan, Tjitske Kleefstra, Joris A Veltman, Arjan P M de Brouwer, Dirk J Lefeber, Hans van Bokhoven, Sheikh Riazuddin

Eur J Hum Genet. 2013 Aug; 21(8): 844–849. Published online 2012 Dec 19. doi: 10.1038/ejhg.2012.257

PMCID:: PMC3722673

Abstract Article PDF–1.5M

Select item 36131807.

Coordinate regulation of N-glycosylation gene DPAGT1, canonical Wnt signaling and E-cadherin adhesion

Pritam K. Sengupta, Meghan P. Bouchie, Mihai Nita-Lazar, Hsiao-Ying Yang, Maria A. Kukuruzinska

J Cell Sci. 2013 Jan 15; 126(2): 484–496. doi: 10.1242/jcs.113035

PMCID:: PMC3613180

Abstract Article

Select item 33972598.

Mutations in DPAGT1 Cause a Limb-Girdle Congenital Myasthenic Syndrome with Tubular Aggregates

Katsiaryna Belaya, Sarah Finlayson, Clarke R. Slater, Judith Cossins, Wei Wei Liu, Susan Maxwell, Simon J. McGowan, Siarhei Maslau, Stephen R.F. Twigg, Timothy J. Walls, Samuel I. Pascual Pascual, Jacqueline Palace, David Beeson

Am J Hum Genet. 2012 Jul 13; 91(1): 193–201. doi: 10.1016/j.ajhg.2012.05.022

PMCID:: PMC3397259

Abstract Article PDF–1.0M

Select item 33626839.

Aberrant Amplification of the Crosstalk between Canonical Wnt Signaling and N-glycosylation Gene DPAGT1 Promotes Oral Cancer

Basem Jamal, Pritam K. Sengupta, Zhen-nan Gao, Mihai Nita-Lazar, Bakr Amin, Sharuch Jalisi, Meghan P. Bouchie, Maria A. Kukuruzinska

Oral Oncol. Author manuscript; available in PMC 2013 Jun 1.

Published in final edited form as: Oral Oncol. 2012 Jun; 48(6): 523–529. Published online 2012 Feb 15. doi: 10.1016/j.oraloncology.2012.01.010

PMCID:: PMC3362683

Abstract Article PDF–1.1M

Select item 122008610.

Regulation of UDP-N-acetylglucosamine:dolichyl-phosphate N-acetylglucosamine-1-phosphate transferase by retinoic acid in P19 cells.

J D Meissner, A Naumann, W H Mueller, R J Scheibe

Biochem J. 1999 Mar 1; 338(Pt 2): 561–568.

PMCID:: PMC1220086

Summary PDF–158K

Select item 584001811.

GlcNAc-1-P-transferase-tunicamycin complex structure reveals basis for inhibition of N-glycosylation

Jiho Yoo, Ellene H. Mashalidis, Alvin C. Y. Kuk, Kazuki Yamamoto, Benjamin Kaeser, Satoshi Ichikawa, Seok-Yong Lee

Nat Struct Mol Biol. Author manuscript; available in PMC 2018 Aug 19.

Published in final edited form as: Nat Struct Mol Biol. 2018 Mar; 25(3): 217–224. Published online 2018 Feb 19. doi: 10.1038/s41594-018-0031-y

PMCID:: PMC5840018

Abstract Article PDF–1.7M

Select item 371128912.

N-Glycosylation Induces the CTHRC1 Protein and Drives Oral Cancer Cell Migration

Gangli Liu, Pritam K. Sengupta, Basem Jamal, Hsiao-Ying Yang, Meghan P. Bouchie, Volkhard Lindner, Xaralabos Varelas, Maria A. Kukuruzinska

J Biol Chem. 2013 Jul 12; 288(28): 20217–20227. Published online 2013 May 23. doi: 10.1074/jbc.M113.473785

PMCID:: PMC3711289

Abstract Article PDF–4.1M

Select item 775818513.

NFAT5 promotes oral squamous cell carcinoma progression in a hyperosmotic environment

Shohei Yoshimoto, Hiromitsu Morita, Miho Matsuda, Yoshinori Katakura, Masato Hirata, Shuichi Hashimoto

Lab Invest. 2021; 101(1): 38–50. Published online 2020 Sep 8. doi: 10.1038/s41374-020-00486-1

PMCID:: PMC7758185

Abstract Article PDF–6.9M

Select item 277119014.

Overexpression of DPAGT1 leads to aberrant N-glycosylation of E-cadherin and cellular discohesion in oral cancer

Mihai Nita-Lazar, Vikki Noonan, Ivan Rebustini, Janice Walker, A. Sue Menko, Maria A. Kukuruzinska

Cancer Res. Author manuscript; available in PMC 2010 Jul 15.

Published in final edited form as: Cancer Res. 2009 Jul 15; 69(14): 5673–5680. Published online 2009 Jun 23. doi: 10.1158/0008-5472.CAN-08-4512

PMCID:: PMC2771190

Abstract Article PDF–3.1M

Select item 168543715.

Demonstration of the heterozygous state for I-cell disease and pseudo-Hurler polydystrophy by assay of N-acetylglucosaminylphosphotransferase in white blood cells and fibroblasts.

A Varki, M L Reitman, A Vannier, S Kornfeld, J H Grubb, W S Sly

Am J Hum Genet. 1982 Sep; 34(5): 717–729.

PMCID:: PMC1685437

Summary Page Browse PDF–1.1M

Select item 295119016.

N-Glycosylation Gene DPAGT1 Is a Target of the Wnt/β-Catenin Signaling Pathway

Pritam K. Sengupta, Meghan P. Bouchie, Maria A. Kukuruzinska

J Biol Chem. 2010 Oct 8; 285(41): 31164–31173. Published online 2010 Aug 6. doi: 10.1074/jbc.M110.149195

PMCID:: PMC2951190

Abstract Article PDF–3.6M

Select item 303170317.

Single nucleotide polymorphisms of matrix metalloproteinase 9 (MMP9) and tumor protein 73 (TP73) interact with Epstein-Barr virus in chronic lymphocytic leukemia: results from the European case-control study EpiLymph

Delphine Casabonne, Oscar Reina, Yolanda Benavente, Nikolaus Becker, Marc Maynadié, Lenka Foretová, Pierluigi Cocco, Anna González-Neira, Alexandra Nieters, Paolo Boffetta, Jaap M. Middeldorp, Silvia de Sanjose

Haematologica. 2011 Feb; 96(2): 323–327. Published online 2010 Nov 3. doi: 10.3324/haematol.2010.031161