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Items: 34

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.

Combined sialic acid and histone deacetylase (HDAC) inhibitor treatment up-regulates the neuroblastoma antigen GD2.

van den Bijgaart RJE, Kroesen M, Wassink M, Brok IC, Kers-Rebel ED, Boon L, Heise T, van Scherpenzeel M, Lefeber DJ, Boltje TJ, den Brok MH, Hoogerbrugge PM, Büll C, Adema GJ.

J Biol Chem. 2019 Mar 22;294(12):4437-4449. doi: 10.1074/jbc.RA118.002763. Epub 2019 Jan 22.

PMID:
30670592
4.

Sialic acid catabolism by N-acetylneuraminate pyruvate lyase is essential for muscle function.

Wen XY, Tarailo-Graovac M, Brand-Arzamendi K, Willems A, Rakic B, Huijben K, Da Silva A, Pan X, El-Rass S, Ng R, Selby K, Philip AM, Yun J, Ye XC, Ross CJ, Lehman AM, Zijlstra F, Abu Bakar N, Drögemöller B, Moreland J, Wasserman WW, Vallance H, van Scherpenzeel M, Karbassi F, Hoskings M, Engelke U, de Brouwer A, Wevers RA, Pshezhetsky AV, van Karnebeek CD, Lefeber DJ.

JCI Insight. 2018 Dec 20;3(24). pii: 122373. doi: 10.1172/jci.insight.122373.

5.

Intact transferrin and total plasma glycoprofiling for diagnosis and therapy monitoring in phosphoglucomutase-I deficiency.

Abu Bakar N, Voermans NC, Marquardt T, Thiel C, Janssen MCH, Hansikova H, Crushell E, Sykut-Cegielska J, Bowling F, MØrkrid L, Vissing J, Morava E, van Scherpenzeel M, Lefeber DJ.

Transl Res. 2018 Sep;199:62-76. doi: 10.1016/j.trsl.2018.04.008. Epub 2018 May 10.

6.

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
7.

NAFLD Phenotype in Patients With V-ATPase Proton Pump Assembly Defects.

Jansen JC, Wolthuis D, Van Scherpenzeel M, Ratziu V, Drenth JPH, Lefeber DJ.

Cell Mol Gastroenterol Hepatol. 2018 Jan 18;5(3):415-417.e1. doi: 10.1016/j.jcmgh.2017.12.011. eCollection 2018 Mar. No abstract available.

8.

Unraveling the unknown areas of the human metabolome: the role of infrared ion spectroscopy.

Martens J, Berden G, Bentlage H, Coene KLM, Engelke UF, Wishart D, van Scherpenzeel M, Kluijtmans LAJ, Wevers RA, Oomens J.

J Inherit Metab Dis. 2018 May;41(3):367-377. doi: 10.1007/s10545-018-0161-8. Epub 2018 Mar 19.

9.

Clinical glycomics for the diagnosis of congenital disorders of glycosylation.

Abu Bakar N, Lefeber DJ, van Scherpenzeel M.

J Inherit Metab Dis. 2018 May;41(3):499-513. doi: 10.1007/s10545-018-0144-9. Epub 2018 Mar 1.

10.

Umbilical artery perforation: a potentially life-threatening complication of umbilical artery catheterisation.

Molanus D, van Scherpenzeel M, Derikx J, van den Dungen F.

BMJ Case Rep. 2017 Nov 14;2017. pii: bcr-2017-222664. doi: 10.1136/bcr-2017-222664.

PMID:
29141932
11.

Dealing With Moral Dilemmas at the Neonatology Ward: The Importance of Joint Case-by-Case Reflection.

Metselaar S, van Scherpenzeel M, Widdershoven G.

Am J Bioeth. 2017 Aug;17(8):21-23. doi: 10.1080/15265161.2017.1341004. No abstract available.

PMID:
28768121
12.

Oral D-galactose supplementation in PGM1-CDG.

Wong SY, Gadomski T, van Scherpenzeel M, Honzik T, Hansikova H, Holmefjord KSB, Mork M, Bowling F, Sykut-Cegielska J, Koch D, Hertecant J, Preston G, Jaeken J, Peeters N, Perez S, Nguyen DD, Crivelly K, Emmerzaal T, Gibson KM, Raymond K, Abu Bakar N, Foulquier F, Poschet G, Ackermann AM, He M, Lefeber DJ, Thiel C, Kozicz T, Morava E.

Genet Med. 2017 Nov;19(11):1226-1235. doi: 10.1038/gim.2017.41. Epub 2017 Jun 15.

13.

PGM1 deficiency: Substrate use during exercise and effect of treatment with galactose.

Voermans NC, Preisler N, Madsen KL, Janssen MC, Kusters B, Abu Bakar N, Conte F, Lamberti VM, Nusman F, van Engelen BG, van Scherpenzeel M, Vissing J, Lefeber DJ.

Neuromuscul Disord. 2017 Apr;27(4):370-376. doi: 10.1016/j.nmd.2017.01.014. Epub 2017 Jan 19.

PMID:
28190645
14.

Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa.

Van Damme T, Gardeitchik T, Mohamed M, Guerrero-Castillo S, Freisinger P, Guillemyn B, Kariminejad A, Dalloyaux D, van Kraaij S, Lefeber DJ, Syx D, Steyaert W, De Rycke R, Hoischen A, Kamsteeg EJ, Wong SY, van Scherpenzeel M, Jamali P, Brandt U, Nijtmans L, Korenke GC, Chung BHY, Mak CCY, Hausser I, Kornak U, Fischer-Zirnsak B, Strom TM, Meitinger T, Alanay Y, Utine GE, Leung PKC, Ghaderi-Sohi S, Coucke P, Symoens S, De Paepe A, Thiel C, Haack TB, Malfait F, Morava E, Callewaert B, Wevers RA.

Am J Hum Genet. 2017 Feb 2;100(2):216-227. doi: 10.1016/j.ajhg.2016.12.010. Epub 2017 Jan 5.

15.

Fast, robust and high-resolution glycosylation profiling of intact monoclonal IgG antibodies using nanoLC-chip-QTOF.

Jacobs JF, Wevers RA, Lefeber DJ, van Scherpenzeel M.

Clin Chim Acta. 2016 Oct 1;461:90-7. doi: 10.1016/j.cca.2016.07.015. Epub 2016 Jul 22.

PMID:
27458127
16.

Galectin-3-Binding Glycomimetics that Strongly Reduce Bleomycin-Induced Lung Fibrosis and Modulate Intracellular Glycan Recognition.

Delaine T, Collins P, MacKinnon A, Sharma G, Stegmayr J, Rajput VK, Mandal S, Cumpstey I, Larumbe A, Salameh BA, Kahl-Knutsson B, van Hattum H, van Scherpenzeel M, Pieters RJ, Sethi T, Schambye H, Oredsson S, Leffler H, Blanchard H, Nilsson UJ.

Chembiochem. 2016 Sep 15;17(18):1759-70. doi: 10.1002/cbic.201600285. Epub 2016 Aug 12.

17.

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.

18.

Hypoglycosylation is a common finding in antithrombin deficiency in the absence of a SERPINC1 gene defect.

de la Morena-Barrio ME, Martínez-Martínez I, de Cos C, Wypasek E, Roldán V, Undas A, van Scherpenzeel M, Lefeber DJ, Toderici M, Sevivas T, España F, Jaeken J, Corral J, Vicente V.

J Thromb Haemost. 2016 Aug;14(8):1549-60. doi: 10.1111/jth.13372. Epub 2016 Jun 29.

19.

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.

20.

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.

21.

Clinical diagnostics and therapy monitoring in the congenital disorders of glycosylation.

Van Scherpenzeel M, Willems E, Lefeber DJ.

Glycoconj J. 2016 Jun;33(3):345-58. doi: 10.1007/s10719-015-9639-x. Epub 2016 Jan 7. Review.

22.

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.

23.

High-resolution mass spectrometry glycoprofiling of intact transferrin for diagnosis and subtype identification in the congenital disorders of glycosylation.

van Scherpenzeel M, Steenbergen G, Morava E, Wevers RA, Lefeber DJ.

Transl Res. 2015 Dec;166(6):639-649.e1. doi: 10.1016/j.trsl.2015.07.005. Epub 2015 Aug 8.

PMID:
26307094
24.

A common sugar-nucleotide-mediated mechanism of inhibition of (glycosamino)glycan biosynthesis, as evidenced by 6F-GalNAc (Ac3).

van Wijk XM, Lawrence R, Thijssen VL, van den Broek SA, Troost R, van Scherpenzeel M, Naidu N, Oosterhof A, Griffioen AW, Lefeber DJ, van Delft FL, van Kuppevelt TH.

FASEB J. 2015 Jul;29(7):2993-3002. doi: 10.1096/fj.14-264226. Epub 2015 Apr 13.

25.

Successful liver transplantation and long-term follow-up in a patient with MPI-CDG.

Janssen MC, de Kleine RH, van den Berg AP, Heijdra Y, van Scherpenzeel M, Lefeber DJ, Morava E.

Pediatrics. 2014 Jul;134(1):e279-83. doi: 10.1542/peds.2013-2732.

PMID:
24982104
26.

Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency.

Van Scherpenzeel M, Timal S, Rymen D, Hoischen A, Wuhrer M, Hipgrave-Ederveen A, Grunewald S, Peanne R, Saada A, Edvardson S, Grønborg S, Ruijter G, Kattentidt-Mouravieva A, Brum JM, Freckmann ML, Tomkins S, Jalan A, Prochazkova D, Ondruskova N, Hansikova H, Willemsen MA, Hensbergen PJ, Matthijs G, Wevers RA, Veltman JA, Morava E, Lefeber DJ.

Brain. 2014 Apr;137(Pt 4):1030-8. doi: 10.1093/brain/awu019. Epub 2014 Feb 24.

PMID:
24566669
27.

Multiple phenotypes in phosphoglucomutase 1 deficiency.

Tegtmeyer LC, Rust S, van Scherpenzeel M, Ng BG, Losfeld ME, Timal S, Raymond K, He P, Ichikawa M, Veltman J, Huijben K, Shin YS, Sharma V, Adamowicz M, Lammens M, Reunert J, Witten A, Schrapers E, Matthijs G, Jaeken J, Rymen D, Stojkovic T, Laforêt P, Petit F, Aumaître O, Czarnowska E, Piraud M, Podskarbi T, Stanley CA, Matalon R, Burda P, Seyyedi S, Debus V, Socha P, Sykut-Cegielska J, van Spronsen F, de Meirleir L, Vajro P, DeClue T, Ficicioglu C, Wada Y, Wevers RA, Vanderschaeghe D, Callewaert N, Fingerhut R, van Schaftingen E, Freeze HH, Morava E, Lefeber DJ, Marquardt T.

N Engl J Med. 2014 Feb 6;370(6):533-42. doi: 10.1056/NEJMoa1206605.

28.

Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan.

Carss KJ, Stevens E, Foley AR, Cirak S, Riemersma M, Torelli S, Hoischen A, Willer T, van Scherpenzeel M, Moore SA, Messina S, Bertini E, Bönnemann CG, Abdenur JE, Grosmann CM, Kesari A, Punetha J, Quinlivan R, Waddell LB, Young HK, Wraige E, Yau S, Brodd L, Feng L, Sewry C, MacArthur DG, North KN, Hoffman E, Stemple DL, Hurles ME, van Bokhoven H, Campbell KP, Lefeber DJ; UK10K Consortium, Lin YY, Muntoni F.

Am J Hum Genet. 2013 Jul 11;93(1):29-41. doi: 10.1016/j.ajhg.2013.05.009. Epub 2013 Jun 13.

29.

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

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.

Eur J Hum Genet. 2013 Aug;21(8):844-9. doi: 10.1038/ejhg.2012.257. Epub 2012 Dec 19.

30.

Protein enrichment by capture-release based on strain-promoted cycloaddition of azide with bicyclononyne (BCN).

Temming RP, van Scherpenzeel M, te Brinke E, Schoffelen S, Gloerich J, Lefeber DJ, van Delft FL.

Bioorg Med Chem. 2012 Jan 15;20(2):655-61. doi: 10.1016/j.bmc.2011.07.049. Epub 2011 Aug 3.

PMID:
21873072
31.

Nanomolar affinity, iminosugar-based chemical probes for specific labeling of lysosomal glucocerebrosidase.

van Scherpenzeel M, van den Berg RJ, Donker-Koopman WE, Liskamp RM, Aerts JM, Overkleeft HS, Pieters RJ.

Bioorg Med Chem. 2010 Jan 1;18(1):267-73. doi: 10.1016/j.bmc.2009.10.060. Epub 2009 Oct 31.

PMID:
19931460
32.

Synthesis and evaluation of new thiodigalactoside-based chemical probes to label galectin-3.

van Scherpenzeel M, Moret EE, Ballell L, Liskamp RM, Nilsson UJ, Leffler H, Pieters RJ.

Chembiochem. 2009 Jul 6;10(10):1724-33. doi: 10.1002/cbic.200900198.

PMID:
19492387
33.

A new chemical probe for the detection of the cancer-linked galectin-3.

Ballell L, van Scherpenzeel M, Buchalova K, Liskamp RM, Pieters RJ.

Org Biomol Chem. 2006 Dec 7;4(23):4387-94. Epub 2006 Oct 30.

PMID:
17102885
34.

Detection of galectin-3 by novel peptidic photoprobes.

van Scherpenzeel M, van der Pot M, Arnusch CJ, Liskamp RM, Pieters RJ.

Bioorg Med Chem Lett. 2007 Jan 15;17(2):376-8. Epub 2006 Oct 21.

PMID:
17095228

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