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Items: 31

1.

Cytidine Diphosphate-Ribitol Analysis for Diagnostics and Treatment Monitoring of Cytidine Diphosphate-L-Ribitol Pyrophosphorylase A Muscular Dystrophy.

van Tol W, van Scherpenzeel M, Alsady M, Riemersma M, Hermans E, Kragt E, Tasca G, Kamsteeg EJ, Pennings M, van Beusekom E, Vermeulen JR, van Bokhoven H, Voermans NC, Willemsen MA, Ashikov A, Lefeber DJ.

Clin Chem. 2019 Aug 2. pii: clinchem.2019.305391. doi: 10.1373/clinchem.2019.305391. [Epub ahead of print]

PMID:
31375477
2.

Activity of N-acylneuraminate-9-phosphatase (NANP) is not essential for de novo sialic acid biosynthesis.

Willems AP, Sun L, Schulz MA, Tian W, Ashikov A, van Scherpenzeel M, Hermans E, Clausen H, Yang Z, Lefeber DJ.

Biochim Biophys Acta Gen Subj. 2019 Oct;1863(10):1471-1479. doi: 10.1016/j.bbagen.2019.05.011. Epub 2019 May 20.

PMID:
31121216
3.

Clinical, neuroradiological, and biochemical features of SLC35A2-CDG patients.

Vals MA, Ashikov A, Ilves P, Loorits D, Zeng Q, Barone R, Huijben K, Sykut-Cegielska J, Diogo L, Elias AF, Greenwood RS, Grunewald S, van Hasselt PM, van de Kamp JM, Mancini G, Okninska A, Pajusalu S, Rudd PM, Rustad CF, Salvarinova R, de Vries BBA, Wolf NI; EPGEN Study, Ng BG, Freeze HH, Lefeber DJ, Õunap K.

J Inherit Metab Dis. 2019 May;42(3):553-564. doi: 10.1002/jimd.12055. Epub 2019 Feb 11.

PMID:
30746764
4.

Integrating glycomics and genomics uncovers SLC10A7 as essential factor for bone mineralization by regulating post-Golgi protein transport and glycosylation.

Ashikov A, Abu Bakar N, Wen XY, Niemeijer M, Rodrigues Pinto Osorio G, Brand-Arzamendi K, Hasadsri L, Hansikova H, Raymond K, Vicogne D, Ondruskova N, Simon MEH, Pfundt R, Timal S, Beumers R, Biot C, Smeets R, Kersten M, Huijben K; CDG group, Linders PTA, van den Bogaart G, van Hijum SAFT, Rodenburg R, van den Heuvel LP, van Spronsen F, Honzik T, Foulquier F, van Scherpenzeel M, Lefeber DJ; CDG group, Mirjam W, Han B, Helen M, Helen M, Peter VH, Jiddeke VK, Diego M, Lars M, Katja BH, Jozef H, Majid A, Kevin C, Johann TWN.

Hum Mol Genet. 2018 Sep 1;27(17):3029-3045. doi: 10.1093/hmg/ddy213.

PMID:
29878199
5.

TNF-α-induced protein 3 (TNFAIP3)/A20 acts as a master switch in TNF-α blockade-driven IL-17A expression.

Urbano PCM, Aguirre-Gamboa R, Ashikov A, van Heeswijk B, Krippner-Heidenreich A, Tijssen H, Li Y, Azevedo VF, Smits LJT, Hoentjen F, Joosten I, Koenen HJPM.

J Allergy Clin Immunol. 2018 Aug;142(2):517-529. doi: 10.1016/j.jaci.2017.11.024. Epub 2017 Dec 14.

PMID:
29248493
6.

Corrigendum: NANS-mediated synthesis of sialic acid is required for brain and skeletal development.

van Karnebeek CDM, Bonafé L, Wen XY, Tarailo-Graovac M, Balzano S, Royer-Bertrand B, Ashikov A, Garavelli L, Mammi I, Turolla L, Breen C, Donnai D, Cormier V, Heron D, Nishimura G, Uchikawa S, Campos-Xavier B, Rossi A, Hennet T, Brand-Arzamendi K, Rozmus J, Harshman K, Stevenson BJ, Girardi E, Superti-Furga G, Dewan T, Collingridge A, Halparin J, Ross CJ, Van Allen MI, Rossi A, Engelke UF, Kluijtmans LAJ, van der Heeft E, Renkema H, de Brouwer A, Huijben K, Zijlstra F, Heisse T, Boltje T, Wasserman WW, Rivolta C, Unger S, Lefeber DJ, Wevers RA, Superti-Furga A.

Nat Genet. 2017 May 26;49(6):969. doi: 10.1038/ng0617-969a. No abstract available.

PMID:
28546570
7.

Effects of a human recombinant alkaline phosphatase during impaired mitochondrial function in human renal proximal tubule epithelial cells.

Peters E, Schirris T, van Asbeck AH, Gerretsen J, Eymael J, Ashikov A, Adjobo-Hermans MJ, Russel F, Pickkers P, Masereeuw R.

Eur J Pharmacol. 2017 Feb 5;796:149-157. doi: 10.1016/j.ejphar.2016.12.034. Epub 2016 Dec 22.

PMID:
28012971
8.

Cryptococcus neoformans UGT1 encodes a UDP-Galactose/UDP-GalNAc transporter.

Li LX, Ashikov A, Liu H, Griffith CL, Bakker H, Doering TL.

Glycobiology. 2017 Jan;27(1):87-98. doi: 10.1093/glycob/cww078. Epub 2016 Aug 3.

9.

ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation.

Jansen EJ, Timal S, Ryan M, Ashikov A, van Scherpenzeel M, Graham LA, Mandel H, Hoischen A, Iancu TC, Raymond K, Steenbergen G, Gilissen C, Huijben K, van Bakel NH, Maeda Y, Rodenburg RJ, Adamowicz M, Crushell E, Koenen H, Adams D, Vodopiutz J, Greber-Platzer S, Müller T, Dueckers G, Morava E, Sykut-Cegielska J, Martens GJ, Wevers RA, Niehues T, Huynen MA, Veltman JA, Stevens TH, Lefeber DJ.

Nat Commun. 2016 May 27;7:11600. doi: 10.1038/ncomms11600.

10.

NANS-mediated synthesis of sialic acid is required for brain and skeletal development.

van Karnebeek CD, Bonafé L, Wen XY, Tarailo-Graovac M, Balzano S, Royer-Bertrand B, Ashikov A, Garavelli L, Mammi I, Turolla L, Breen C, Donnai D, Cormier-Daire V, Heron D, Nishimura G, Uchikawa S, Campos-Xavier B, Rossi A, Hennet T, Brand-Arzamendi K, Rozmus J, Harshman K, Stevenson BJ, Girardi E, Superti-Furga G, Dewan T, Collingridge A, Halparin J, Ross CJ, Van Allen MI, Rossi A, Engelke UF, Kluijtmans LA, van der Heeft E, Renkema H, de Brouwer A, Huijben K, Zijlstra F, Heise T, Boltje T, Wasserman WW, Rivolta C, Unger S, Lefeber DJ, Wevers RA, Superti-Furga A.

Nat Genet. 2016 Jul;48(7):777-84. doi: 10.1038/ng.3578. Epub 2016 May 23. Erratum in: Nat Genet. 2017 May 26;49(6):969.

11.

CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation.

Jansen JC, Cirak S, van Scherpenzeel M, Timal S, Reunert J, Rust S, Pérez B, Vicogne D, Krawitz P, Wada Y, Ashikov A, Pérez-Cerdá C, Medrano C, Arnoldy A, Hoischen A, Huijben K, Steenbergen G, Quelhas D, Diogo L, Rymen D, Jaeken J, Guffon N, Cheillan D, van den Heuvel LP, Maeda Y, Kaiser O, Schara U, Gerner P, van den Boogert MA, Holleboom AG, Nassogne MC, Sokal E, Salomon J, van den Bogaart G, Drenth JP, Huynen MA, Veltman JA, Wevers RA, Morava E, Matthijs G, Foulquier F, Marquardt T, Lefeber DJ.

Am J Hum Genet. 2016 Feb 4;98(2):310-21. doi: 10.1016/j.ajhg.2015.12.010. Epub 2016 Jan 28.

12.

TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation.

Jansen JC, Timal S, van Scherpenzeel M, Michelakakis H, Vicogne D, Ashikov A, Moraitou M, Hoischen A, Huijben K, Steenbergen G, van den Boogert MA, Porta F, Calvo PL, Mavrikou M, Cenacchi G, van den Bogaart G, Salomon J, Holleboom AG, Rodenburg RJ, Drenth JP, Huynen MA, Wevers RA, Morava E, Foulquier F, Veltman JA, Lefeber DJ.

Am J Hum Genet. 2016 Feb 4;98(2):322-30. doi: 10.1016/j.ajhg.2015.12.011. Epub 2016 Jan 28.

13.

Human ISPD Is a Cytidyltransferase Required for Dystroglycan O-Mannosylation.

Riemersma M, Froese DS, van Tol W, Engelke UF, Kopec J, van Scherpenzeel M, Ashikov A, Krojer T, von Delft F, Tessari M, Buczkowska A, Swiezewska E, Jae LT, Brummelkamp TR, Manya H, Endo T, van Bokhoven H, Yue WW, Lefeber DJ.

Chem Biol. 2015 Dec 17;22(12):1643-52. doi: 10.1016/j.chembiol.2015.10.014. Epub 2015 Dec 10.

14.

Sialic Acid Glycoengineering Using an Unnatural Sialic Acid for the Detection of Sialoglycan Biosynthesis Defects and On-Cell Synthesis of Siglec Ligands.

Büll C, Heise T, Beurskens DM, Riemersma M, Ashikov A, Rutjes FP, van Kuppevelt TH, Lefeber DJ, den Brok MH, Adema GJ, Boltje TJ.

ACS Chem Biol. 2015 Oct 16;10(10):2353-63. doi: 10.1021/acschembio.5b00501. Epub 2015 Aug 10.

PMID:
26258433
15.

Disease mutations in CMP-sialic acid transporter SLC35A1 result in abnormal α-dystroglycan O-mannosylation, independent from sialic acid.

Riemersma M, Sandrock J, Boltje TJ, Büll C, Heise T, Ashikov A, Adema GJ, van Bokhoven H, Lefeber DJ.

Hum Mol Genet. 2015 Apr 15;24(8):2241-6. doi: 10.1093/hmg/ddu742. Epub 2014 Dec 30.

PMID:
25552652
16.

Arabidopsis ROCK1 transports UDP-GlcNAc/UDP-GalNAc and regulates ER protein quality control and cytokinin activity.

Niemann MC, Bartrina I, Ashikov A, Weber H, Novák O, Spíchal L, Strnad M, Strasser R, Bakker H, Schmülling T, Werner T.

Proc Natl Acad Sci U S A. 2015 Jan 6;112(1):291-6. doi: 10.1073/pnas.1419050112. Epub 2014 Dec 22.

17.

Structure and function of nucleotide sugar transporters: Current progress.

Hadley B, Maggioni A, Ashikov A, Day CJ, Haselhorst T, Tiralongo J.

Comput Struct Biotechnol J. 2014 Jun 11;10(16):23-32. doi: 10.1016/j.csbj.2014.05.003. eCollection 2014 Jun. Review.

18.

Mutations in SLC35A3 cause autism spectrum disorder, epilepsy and arthrogryposis.

Edvardson S, Ashikov A, Jalas C, Sturiale L, Shaag A, Fedick A, Treff NR, Garozzo D, Gerardy-Schahn R, Elpeleg O.

J Med Genet. 2013 Nov;50(11):733-9. doi: 10.1136/jmedgenet-2013-101753. Epub 2013 Sep 12.

PMID:
24031089
19.

Characterisation of CMP-sialic acid transporter substrate recognition.

Maggioni A, von Itzstein M, Rodríguez Guzmán IB, Ashikov A, Stephens AS, Haselhorst T, Tiralongo J.

Chembiochem. 2013 Oct 11;14(15):1936-42. doi: 10.1002/cbic.201300298. Epub 2013 Sep 6.

PMID:
24014346
20.

Intellectual disability and bleeding diathesis due to deficient CMP--sialic acid transport.

Mohamed M, Ashikov A, Guillard M, Robben JH, Schmidt S, van den Heuvel B, de Brouwer AP, Gerardy-Schahn R, Deen PM, Wevers RA, Lefeber DJ, Morava E.

Neurology. 2013 Aug 13;81(7):681-7. doi: 10.1212/WNL.0b013e3182a08f53. Epub 2013 Jul 19.

PMID:
23873973
21.

In vitro assays of orphan glycosyltransferases and their application to identify Notch xylosyltransferases.

Sethi MK, Buettner FF, Ashikov A, Bakker H.

Methods Mol Biol. 2013;1022:307-20. doi: 10.1007/978-1-62703-465-4_23.

PMID:
23765671
22.

C. elegans DPY-19 is a C-mannosyltransferase glycosylating thrombospondin repeats.

Buettner FF, Ashikov A, Tiemann B, Lehle L, Bakker H.

Mol Cell. 2013 Apr 25;50(2):295-302. doi: 10.1016/j.molcel.2013.03.003. Epub 2013 Apr 4.

23.

LARGE2 generates the same xylose- and glucuronic acid-containing glycan structures as LARGE.

Ashikov A, Buettner FF, Tiemann B, Gerardy-Schahn R, Bakker H.

Glycobiology. 2013 Mar;23(3):303-9. doi: 10.1093/glycob/cws153. Epub 2012 Nov 7.

PMID:
23135544
24.

Molecular cloning of a xylosyltransferase that transfers the second xylose to O-glucosylated epidermal growth factor repeats of notch.

Sethi MK, Buettner FF, Ashikov A, Krylov VB, Takeuchi H, Nifantiev NE, Haltiwanger RS, Gerardy-Schahn R, Bakker H.

J Biol Chem. 2012 Jan 20;287(4):2739-48. doi: 10.1074/jbc.M111.302406. Epub 2011 Nov 23.

25.

A syndrome with congenital neutropenia and mutations in G6PC3.

Boztug K, Appaswamy G, Ashikov A, Schäffer AA, Salzer U, Diestelhorst J, Germeshausen M, Brandes G, Lee-Gossler J, Noyan F, Gatzke AK, Minkov M, Greil J, Kratz C, Petropoulou T, Pellier I, Bellanné-Chantelot C, Rezaei N, Mönkemöller K, Irani-Hakimeh N, Bakker H, Gerardy-Schahn R, Zeidler C, Grimbacher B, Welte K, Klein C.

N Engl J Med. 2009 Jan 1;360(1):32-43. doi: 10.1056/NEJMoa0805051. Erratum in: N Engl J Med. 2011 Apr 28;364(17):1682.

26.

Functional UDP-xylose transport across the endoplasmic reticulum/Golgi membrane in a Chinese hamster ovary cell mutant defective in UDP-xylose Synthase.

Bakker H, Oka T, Ashikov A, Yadav A, Berger M, Rana NA, Bai X, Jigami Y, Haltiwanger RS, Esko JD, Gerardy-Schahn R.

J Biol Chem. 2009 Jan 23;284(4):2576-83. doi: 10.1074/jbc.M804394200. Epub 2008 Nov 20.

27.

A CMP-sialic acid transporter cloned from Arabidopsis thaliana.

Bakker H, Routier F, Ashikov A, Neumann D, Bosch D, Gerardy-Schahn R.

Carbohydr Res. 2008 Aug 11;343(12):2148-52. doi: 10.1016/j.carres.2008.01.010. Epub 2008 Jan 17.

PMID:
18258224
28.

Functional expression of the CMP-sialic acid transporter in Escherichia coli and its identification as a simple mobile carrier.

Tiralongo J, Ashikov A, Routier F, Eckhardt M, Bakker H, Gerardy-Schahn R, von Itzstein M.

Glycobiology. 2006 Jan;16(1):73-81. Epub 2005 Aug 23.

PMID:
16118285
29.

Endoplasmic reticulum retention of the large splice variant of the UDP-galactose transporter is caused by a dilysine motif.

Kabuss R, Ashikov A, Oelmann S, Gerardy-Schahn R, Bakker H.

Glycobiology. 2005 Oct;15(10):905-11. Epub 2005 Jun 2.

PMID:
15932921
30.

The human solute carrier gene SLC35B4 encodes a bifunctional nucleotide sugar transporter with specificity for UDP-xylose and UDP-N-acetylglucosamine.

Ashikov A, Routier F, Fuhlrott J, Helmus Y, Wild M, Gerardy-Schahn R, Bakker H.

J Biol Chem. 2005 Jul 22;280(29):27230-5. Epub 2005 May 23.

31.

C283Y mutation and other C-terminal nucleotide changes in the gamma-sarcoglycan gene in the Bulgarian Gypsy population.

Todorova A, Ashikov A, Beltcheva O, Tournev I, Kremensky I.

Hum Mutat. 1999;14(1):40-4. Erratum in: Hum Mutat 2000;15(5):479.

PMID:
10447257

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