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Items: 1 to 20 of 250

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.

SETD3 protein is the actin-specific histidine N-methyltransferase.

Kwiatkowski S, Seliga AK, Vertommen D, Terreri M, Ishikawa T, Grabowska I, Tiebe M, Teleman AA, Jagielski AK, Veiga-da-Cunha M, Drozak J.

Elife. 2018 Dec 11;7. pii: e37921. doi: 10.7554/eLife.37921.

8.

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.

9.

High-resolution mapping and recognition of lipid domains using AFM with toxin-derivatized probes.

Dumitru AC, Conrard L, Lo Giudice C, Henriet P, Veiga-da-Cunha M, Derclaye S, Tyteca D, Alsteens D.

Chem Commun (Camb). 2018 Jun 19;54(50):6903-6906. doi: 10.1039/c8cc02201a.

PMID:
29808215
10.

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.

11.

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.

12.

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.

13.

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
14.

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.

15.

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.

16.

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
17.

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.

18.

Carnosine and anserine homeostasis in skeletal muscle and heart is controlled by β-alanine transamination.

Blancquaert L, Baba SP, Kwiatkowski S, Stautemas J, Stegen S, Barbaresi S, Chung W, Boakye AA, Hoetker JD, Bhatnagar A, Delanghe J, Vanheel B, Veiga-da-Cunha M, Derave W, Everaert I.

J Physiol. 2016 Sep 1;594(17):4849-63. doi: 10.1113/JP272050. Epub 2016 Jun 2.

19.

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
20.

Cholesterol segregates into submicrometric domains at the living erythrocyte membrane: evidence and regulation.

Carquin M, Conrard L, Pollet H, Van Der Smissen P, Cominelli A, Veiga-da-Cunha M, Courtoy PJ, Tyteca D.

Cell Mol Life Sci. 2015 Dec;72(23):4633-51. doi: 10.1007/s00018-015-1951-x. Epub 2015 Jun 16.

PMID:
26077601

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