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Items: 1 to 50 of 238

1.

Metabolite Repair Enzymes Control Metabolic Damage in Glycolysis.

Bommer GT, Van Schaftingen E, Veiga-da-Cunha M.

Trends Biochem Sci. 2019 Aug 28. pii: S0968-0004(19)30176-8. doi: 10.1016/j.tibs.2019.07.004. [Epub ahead of print] Review.

2.

The synthesis of branched-chain fatty acids is limited by enzymatic decarboxylation of ethyl- and methylmalonyl-CoA.

Dewulf JP, Gerin I, Rider MH, Veiga-da-Cunha M, Van Schaftingen E, Bommer GT.

Biochem J. 2019 Aug 30;476(16):2427-2447. doi: 10.1042/BCJ20190500.

3.

D-2-hydroxyglutaric aciduria Type I: Functional analysis of D2HGDH missense variants.

Pop A, Struys EA, Jansen EEW, Fernandez MR, Kanhai WA, van Dooren SJM, Ozturk S, van Oostendorp J, Lennertz P, Kranendijk M, van der Knaap MS, Gibson KM, van Schaftingen E, Salomons GS.

Hum Mutat. 2019 Jul;40(7):975-982. doi: 10.1002/humu.23751. Epub 2019 Apr 13.

4.

Phosphoglycolate has profound metabolic effects but most likely no role in a metabolic DNA response in cancer cell lines.

Gerin I, Bury M, Baldin F, Graff J, Van Schaftingen E, Bommer GT.

Biochem J. 2019 Feb 19;476(4):629-643. doi: 10.1042/BCJ20180435.

5.

SLC13A3 variants cause acute reversible leukoencephalopathy and α-ketoglutarate accumulation.

Dewulf JP, Wiame E, Dorboz I, Elmaleh-Bergès M, Imbard A, Dumitriu D, Rak M, Bourillon A, Helaers R, Malla A, Renaldo F, Boespflug-Tanguy O, Vincent MF, Benoist JF, Wevers RA, Schlessinger A, Van Schaftingen E, Nassogne MC, Schiff M.

Ann Neurol. 2019 Mar;85(3):385-395. doi: 10.1002/ana.25412. Epub 2019 Jan 29.

PMID:
30635937
6.

Failure to eliminate a phosphorylated glucose analog leads to neutropenia in patients with G6PT and G6PC3 deficiency.

Veiga-da-Cunha M, Chevalier N, Stephenne X, Defour JP, Paczia N, Ferster A, Achouri Y, Dewulf JP, Linster CL, Bommer GT, Van Schaftingen E.

Proc Natl Acad Sci U S A. 2019 Jan 22;116(4):1241-1250. doi: 10.1073/pnas.1816143116. Epub 2019 Jan 9.

7.

NAT6 acetylates the N-terminus of different forms of actin.

Wiame E, Tahay G, Tyteca D, Vertommen D, Stroobant V, Bommer GT, Van Schaftingen E.

FEBS J. 2018 Sep;285(17):3299-3316. doi: 10.1111/febs.14605. Epub 2018 Aug 13.

8.

Congenital disorders of glycosylation (CDG): Quo vadis?

Péanne R, de Lonlay P, Foulquier F, Kornak U, Lefeber DJ, Morava E, Pérez B, Seta N, Thiel C, Van Schaftingen E, Matthijs G, Jaeken J.

Eur J Med Genet. 2018 Nov;61(11):643-663. doi: 10.1016/j.ejmg.2017.10.012. Epub 2017 Oct 25. Review.

9.

Limitations of galactose therapy in phosphoglucomutase 1 deficiency.

Nolting K, Park JH, Tegtmeyer LC, Zühlsdorf A, Grüneberg M, Rust S, Reunert J, Du Chesne I, Debus V, Schulze-Bahr E, Baxter RC, Wada Y, Thiel C, van Schaftingen E, Fingerhut R, Marquardt T.

Mol Genet Metab Rep. 2017 Jul 31;13:33-40. doi: 10.1016/j.ymgmr.2017.07.010. eCollection 2017 Dec.

10.

Erythritol Availability in Bovine, Murine and Human Models Highlights a Potential Role for the Host Aldose Reductase during Brucella Infection.

Barbier T, Machelart A, Zúñiga-Ripa A, Plovier H, Hougardy C, Lobet E, Willemart K, Muraille E, De Bolle X, Van Schaftingen E, Moriyón I, Letesson JJ.

Front Microbiol. 2017 Jun 13;8:1088. doi: 10.3389/fmicb.2017.01088. eCollection 2017.

11.

A novel mutation in GMPPA in siblings with apparent intellectual disability, epilepsy, dysmorphism, and autonomic dysfunction.

Gold WA, Sobreira N, Wiame E, Marbaix A, Van Schaftingen E, Franzka P, Riley LG, Worgan L, Hübner CA, Christodoulou J, Adès LC.

Am J Med Genet A. 2017 Aug;173(8):2246-2250. doi: 10.1002/ajmg.a.38292. Epub 2017 Jun 2.

PMID:
28574218
12.

Nit1 is a metabolite repair enzyme that hydrolyzes deaminated glutathione.

Peracchi A, Veiga-da-Cunha M, Kuhara T, Ellens KW, Paczia N, Stroobant V, Seliga AK, Marlaire S, Jaisson S, Bommer GT, Sun J, Huebner K, Linster CL, Cooper AJL, Van Schaftingen E.

Proc Natl Acad Sci U S A. 2017 Apr 18;114(16):E3233-E3242. doi: 10.1073/pnas.1613736114. Epub 2017 Apr 3.

13.

Accumulation of metabolic side products might favor the production of ethanol in Pho13 knockout strains.

Bommer GT, Baldin F, Van Schaftingen E.

Microb Cell. 2016 Sep 23;3(10):495-499. doi: 10.15698/mic2016.10.532. No abstract available.

14.

A conserved phosphatase destroys toxic glycolytic side products in mammals and yeast.

Collard F, Baldin F, Gerin I, Bolsée J, Noël G, Graff J, Veiga-da-Cunha M, Stroobant V, Vertommen D, Houddane A, Rider MH, Linster CL, Van Schaftingen E, Bommer GT.

Nat Chem Biol. 2016 Aug;12(8):601-7. doi: 10.1038/nchembio.2104. Epub 2016 Jun 13.

PMID:
27294321
15.

ISPD produces CDP-ribitol used by FKTN and FKRP to transfer ribitol phosphate onto α-dystroglycan.

Gerin I, Ury B, Breloy I, Bouchet-Seraphin C, Bolsée J, Halbout M, Graff J, Vertommen D, Muccioli GG, Seta N, Cuisset JM, Dabaj I, Quijano-Roy S, Grahn A, Van Schaftingen E, Bommer GT.

Nat Commun. 2016 May 19;7:11534. doi: 10.1038/ncomms11534.

16.

Two new cases of serine deficiency disorders treated with l-serine.

Brassier A, Valayannopoulos V, Bahi-Buisson N, Wiame E, Hubert L, Boddaert N, Kaminska A, Habarou F, Desguerre I, Van Schaftingen E, Ottolenghi C, de Lonlay P.

Eur J Paediatr Neurol. 2016 Jan;20(1):53-60. doi: 10.1016/j.ejpn.2015.10.007. Epub 2015 Nov 5.

PMID:
26610677
17.

A mouse model of L-2-hydroxyglutaric aciduria, a disorder of metabolite repair.

Rzem R, Achouri Y, Marbaix E, Schakman O, Wiame E, Marie S, Gailly P, Vincent MF, Veiga-da-Cunha M, Van Schaftingen E.

PLoS One. 2015 Mar 12;10(3):e0119540. doi: 10.1371/journal.pone.0119540. eCollection 2015.

18.

Enzyme complexity in intermediary metabolism.

Van Schaftingen E, Veiga-da-Cunha M, Linster CL.

J Inherit Metab Dis. 2015 Jul;38(4):721-7. doi: 10.1007/s10545-015-9821-0. Epub 2015 Feb 21. Review.

PMID:
25700988
19.

Erythritol feeds the pentose phosphate pathway via three new isomerases leading to D-erythrose-4-phosphate in Brucella.

Barbier T, Collard F, Zúñiga-Ripa A, Moriyón I, Godard T, Becker J, Wittmann C, Van Schaftingen E, Letesson JJ.

Proc Natl Acad Sci U S A. 2014 Dec 16;111(50):17815-20. doi: 10.1073/pnas.1414622111. Epub 2014 Dec 1.

20.

Metabolite proofreading in carnosine and homocarnosine synthesis: molecular identification of PM20D2 as β-alanyl-lysine dipeptidase.

Veiga-da-Cunha M, Chevalier N, Stroobant V, Vertommen D, Van Schaftingen E.

J Biol Chem. 2014 Jul 11;289(28):19726-36. doi: 10.1074/jbc.M114.576579. Epub 2014 Jun 2.

21.

Occurrence and subcellular distribution of the NADPHX repair system in mammals.

Marbaix AY, Tyteca D, Niehaus TD, Hanson AD, Linster CL, Van Schaftingen E.

Biochem J. 2014 May 15;460(1):49-58. doi: 10.1042/BJ20131482.

PMID:
24611804
22.

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.

23.

Vertebrate Acyl CoA synthetase family member 4 (ACSF4-U26) is a β-alanine-activating enzyme homologous to bacterial non-ribosomal peptide synthetase.

Drozak J, Veiga-da-Cunha M, Kadziolka B, Van Schaftingen E.

FEBS J. 2014 Mar;281(6):1585-97. doi: 10.1111/febs.12725. Epub 2014 Feb 12.

24.

Identification of TP53-induced glycolysis and apoptosis regulator (TIGAR) as the phosphoglycolate-independent 2,3-bisphosphoglycerate phosphatase.

Gerin I, Noël G, Bolsée J, Haumont O, Van Schaftingen E, Bommer GT.

Biochem J. 2014 Mar 15;458(3):439-48. doi: 10.1042/BJ20130841.

PMID:
24423178
25.

Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction.

Koehler K, Malik M, Mahmood S, Gießelmann S, Beetz C, Hennings JC, Huebner AK, Grahn A, Reunert J, Nürnberg G, Thiele H, Altmüller J, Nürnberg P, Mumtaz R, Babovic-Vuksanovic D, Basel-Vanagaite L, Borck G, Brämswig J, Mühlenberg R, Sarda P, Sikiric A, Anyane-Yeboa K, Zeharia A, Ahmad A, Coubes C, Wada Y, Marquardt T, Vanderschaeghe D, Van Schaftingen E, Kurth I, Huebner A, Hübner CA.

Am J Hum Genet. 2013 Oct 3;93(4):727-34. doi: 10.1016/j.ajhg.2013.08.002. Epub 2013 Sep 12.

26.

C7orf10 encodes succinate-hydroxymethylglutarate CoA-transferase, the enzyme that converts glutarate to glutaryl-CoA.

Marlaire S, Van Schaftingen E, Veiga-da-Cunha M.

J Inherit Metab Dis. 2014 Jan;37(1):13-9. doi: 10.1007/s10545-013-9632-0. Epub 2013 Jul 27.

PMID:
23893049
27.

Newly characterized Golgi-localized family of proteins is involved in calcium and pH homeostasis in yeast and human cells.

Demaegd D, Foulquier F, Colinet AS, Gremillon L, Legrand D, Mariot P, Peiter E, Van Schaftingen E, Matthijs G, Morsomme P.

Proc Natl Acad Sci U S A. 2013 Apr 23;110(17):6859-64. doi: 10.1073/pnas.1219871110. Epub 2013 Apr 8.

28.

3-Phosphoglycerate dehydrogenase deficiency: description of two new cases in Tunisia and review of the literature.

Kraoua I, Wiame E, Kraoua L, Nasrallah F, Benrhouma H, Rouissi A, Turki I, Chaabouni H, Briand G, Kaabachi N, Van Schaftingen E, Gouider-Khouja N.

Neuropediatrics. 2013 Oct;44(5):281-5. doi: 10.1055/s-0033-1338133. Epub 2013 Apr 6. Review.

PMID:
23564319
29.

Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria.

Nota B, Struys EA, Pop A, Jansen EE, Fernandez Ojeda MR, Kanhai WA, Kranendijk M, van Dooren SJ, Bevova MR, Sistermans EA, Nieuwint AW, Barth M, Ben-Omran T, Hoffmann GF, de Lonlay P, McDonald MT, Meberg A, Muntau AC, Nuoffer JM, Parini R, Read MH, Renneberg A, Santer R, Strahleck T, van Schaftingen E, van der Knaap MS, Jakobs C, Salomons GS.

Am J Hum Genet. 2013 Apr 4;92(4):627-31. doi: 10.1016/j.ajhg.2013.03.009.

30.

Metabolite damage and its repair or pre-emption.

Linster CL, Van Schaftingen E, Hanson AD.

Nat Chem Biol. 2013 Feb;9(2):72-80. doi: 10.1038/nchembio.1141. Review.

PMID:
23334546
31.

Metabolite proofreading, a neglected aspect of intermediary metabolism.

Van Schaftingen E, Rzem R, Marbaix A, Collard F, Veiga-da-Cunha M, Linster CL.

J Inherit Metab Dis. 2013 May;36(3):427-34. doi: 10.1007/s10545-012-9571-1. Epub 2013 Jan 8. Review.

PMID:
23296366
32.

Mutations in the AGXT2L2 gene cause phosphohydroxylysinuria.

Veiga-da-Cunha M, Verhoeven-Duif NM, de Koning TJ, Duran M, Dorland B, Van Schaftingen E.

J Inherit Metab Dis. 2013 Nov;36(6):961-6. doi: 10.1007/s10545-012-9568-9. Epub 2012 Dec 14.

PMID:
23242558
33.

TMEM165 deficiency causes a congenital disorder of glycosylation.

Foulquier F, Amyere M, Jaeken J, Zeevaert R, Schollen E, Race V, Bammens R, Morelle W, Rosnoblet C, Legrand D, Demaegd D, Buist N, Cheillan D, Guffon N, Morsomme P, Annaert W, Freeze HH, Van Schaftingen E, Vikkula M, Matthijs G.

Am J Hum Genet. 2012 Jul 13;91(1):15-26. doi: 10.1016/j.ajhg.2012.05.002. Epub 2012 Jun 7.

34.

A serine synthesis defect presenting with a Charcot-Marie-Tooth-like polyneuropathy.

Méneret A, Wiame E, Marelli C, Lenglet T, Van Schaftingen E, Sedel F.

Arch Neurol. 2012 Jul;69(7):908-11.

PMID:
22393170
35.

Molecular identification of hydroxylysine kinase and of ammoniophospholyases acting on 5-phosphohydroxy-L-lysine and phosphoethanolamine.

Veiga-da-Cunha M, Hadi F, Balligand T, Stroobant V, Van Schaftingen E.

J Biol Chem. 2012 Mar 2;287(10):7246-55. doi: 10.1074/jbc.M111.323485. Epub 2012 Jan 12.

36.

RNAi screening in glioma stem-like cells identifies PFKFB4 as a key molecule important for cancer cell survival.

Goidts V, Bageritz J, Puccio L, Nakata S, Zapatka M, Barbus S, Toedt G, Campos B, Korshunov A, Momma S, Van Schaftingen E, Reifenberger G, Herold-Mende C, Lichter P, Radlwimmer B.

Oncogene. 2012 Jul 5;31(27):3235-43. doi: 10.1038/onc.2011.490. Epub 2011 Nov 7.

PMID:
22056879
37.

Ethylmalonyl-CoA decarboxylase, a new enzyme involved in metabolite proofreading.

Linster CL, Noël G, Stroobant V, Vertommen D, Vincent MF, Bommer GT, Veiga-da-Cunha M, Van Schaftingen E.

J Biol Chem. 2011 Dec 16;286(50):42992-3003. doi: 10.1074/jbc.M111.281527. Epub 2011 Oct 20.

38.

Extremely conserved ATP- or ADP-dependent enzymatic system for nicotinamide nucleotide repair.

Marbaix AY, Noël G, Detroux AM, Vertommen D, Van Schaftingen E, Linster CL.

J Biol Chem. 2011 Dec 2;286(48):41246-52. doi: 10.1074/jbc.C111.310847. Epub 2011 Oct 12.

39.

Determinants of the enzymatic activity and the subcellular localization of aspartate N-acetyltransferase.

Tahay G, Wiame E, Tyteca D, Courtoy PJ, Van Schaftingen E.

Biochem J. 2012 Jan 1;441(1):105-12. doi: 10.1042/BJ20111179.

PMID:
21936773
40.

Molecular identification of β-citrylglutamate hydrolase as glutamate carboxypeptidase 3.

Collard F, Vertommen D, Constantinescu S, Buts L, Van Schaftingen E.

J Biol Chem. 2011 Nov 4;286(44):38220-30. doi: 10.1074/jbc.M111.287318. Epub 2011 Sep 9.

41.

A lymphoblast model for IDH2 gain-of-function activity in d-2-hydroxyglutaric aciduria type II: novel avenues for biochemical and therapeutic studies.

Kranendijk M, Salomons GS, Gibson KM, Van Schaftingen E, Jakobs C, Struys EA.

Biochim Biophys Acta. 2011 Nov;1812(11):1380-4. doi: 10.1016/j.bbadis.2011.08.006. Epub 2011 Aug 24.

42.

Enzymatic repair of Amadori products.

Van Schaftingen E, Collard F, Wiame E, Veiga-da-Cunha M.

Amino Acids. 2012 Apr;42(4):1143-50. doi: 10.1007/s00726-010-0780-3. Epub 2010 Oct 22. Review.

PMID:
20967558
43.

IDH2 mutations in patients with D-2-hydroxyglutaric aciduria.

Kranendijk M, Struys EA, van Schaftingen E, Gibson KM, Kanhai WA, van der Knaap MS, Amiel J, Buist NR, Das AM, de Klerk JB, Feigenbaum AS, Grange DK, Hofstede FC, Holme E, Kirk EP, Korman SH, Morava E, Morris A, Smeitink J, Sukhai RN, Vallance H, Jakobs C, Salomons GS.

Science. 2010 Oct 15;330(6002):336. doi: 10.1126/science.1192632. Epub 2010 Sep 16.

44.

HDHD1, which is often deleted in X-linked ichthyosis, encodes a pseudouridine-5'-phosphatase.

Preumont A, Rzem R, Vertommen D, Van Schaftingen E.

Biochem J. 2010 Oct 15;431(2):237-44. doi: 10.1042/BJ20100174.

PMID:
20722631
45.

Molecular identification of N-acetylaspartylglutamate synthase and beta-citrylglutamate synthase.

Collard F, Stroobant V, Lamosa P, Kapanda CN, Lambert DM, Muccioli GG, Poupaert JH, Opperdoes F, Van Schaftingen E.

J Biol Chem. 2010 Sep 24;285(39):29826-33. doi: 10.1074/jbc.M110.152629. Epub 2010 Jul 24.

46.

Binding of mannose-binding lectin to fructosamines: a potential link between hyperglycaemia and complement activation in diabetes.

Fortpied J, Vertommen D, Van Schaftingen E.

Diabetes Metab Res Rev. 2010 May;26(4):254-60. doi: 10.1002/dmrr.1079.

PMID:
20503257
47.

Molecular identification of NAT8 as the enzyme that acetylates cysteine S-conjugates to mercapturic acids.

Veiga-da-Cunha M, Tyteca D, Stroobant V, Courtoy PJ, Opperdoes FR, Van Schaftingen E.

J Biol Chem. 2010 Jun 11;285(24):18888-98. doi: 10.1074/jbc.M110.110924. Epub 2010 Apr 13.

48.

Molecular identification of carnosine synthase as ATP-grasp domain-containing protein 1 (ATPGD1).

Drozak J, Veiga-da-Cunha M, Vertommen D, Stroobant V, Van Schaftingen E.

J Biol Chem. 2010 Mar 26;285(13):9346-56. doi: 10.1074/jbc.M109.095505. Epub 2010 Jan 22.

49.

Effects of fructosamine-3-kinase deficiency on function and survival of mouse pancreatic islets after prolonged culture in high glucose or ribose concentrations.

Pascal SM, Veiga-da-Cunha M, Gilon P, Van Schaftingen E, Jonas JC.

Am J Physiol Endocrinol Metab. 2010 Mar;298(3):E586-96. doi: 10.1152/ajpendo.00503.2009. Epub 2009 Dec 15.

50.

Molecular identification of aspartate N-acetyltransferase and its mutation in hypoacetylaspartia.

Wiame E, Tyteca D, Pierrot N, Collard F, Amyere M, Noel G, Desmedt J, Nassogne MC, Vikkula M, Octave JN, Vincent MF, Courtoy PJ, Boltshauser E, van Schaftingen E.

Biochem J. 2009 Dec 14;425(1):127-36. doi: 10.1042/BJ20091024.

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