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Items: 1 to 50 of 571

1.

Correction: AIM2 Drives Joint Inflammation in a Self-DNA Triggered Model of Chronic Polyarthritis.

Jakobs C, Perner S, Hornung V.

PLoS One. 2018 Aug 9;13(8):e0202364. doi: 10.1371/journal.pone.0202364. eCollection 2018.

2.

ATAD1 encephalopathy and stiff baby syndrome: a recognizable clinical presentation.

Wolf NI, Zschocke J, Jakobs C, Rating D, Hoffmann GF.

Brain. 2018 Jun 1;141(6):e49. doi: 10.1093/brain/awy095. No abstract available.

PMID:
29659736
3.

Experimental evidence of oxidative stress in patients with l-2-hydroxyglutaric aciduria and that l-carnitine attenuates in vitro DNA damage caused by d-2-hydroxyglutaric and l-2-hydroxyglutaric acids.

Rodrigues DGB, de Moura Coelho D, Sitta Â, Jacques CED, Hauschild T, Manfredini V, Bakkali A, Struys EA, Jakobs C, Wajner M, Vargas CR.

Toxicol In Vitro. 2017 Aug;42:47-53. doi: 10.1016/j.tiv.2017.04.006. Epub 2017 Apr 7.

4.

Sequential administration of a MVA-based MUC1 cancer vaccine and the TLR9 ligand Litenimod (Li28) improves local immune defense against tumors.

Schaedler E, Remy-Ziller C, Hortelano J, Kehrer N, Claudepierre MC, Gatard T, Jakobs C, Préville X, Carpentier AF, Rittner K.

Vaccine. 2017 Jan 23;35(4):577-585. doi: 10.1016/j.vaccine.2016.12.020. Epub 2016 Dec 21.

PMID:
28012777
5.

STING Contributes to Abnormal Bone Formation Induced by Deficiency of DNase II in Mice.

Baum R, Sharma S, Organ JM, Jakobs C, Hornung V, Burr DB, Marshak-Rothstein A, Fitzgerald KA, Gravallese EM.

Arthritis Rheumatol. 2017 Feb;69(2):460-471. doi: 10.1002/art.39863.

6.

Inflammasome-Dependent Induction of Adaptive NK Cell Memory.

van den Boorn JG, Jakobs C, Hagen C, Renn M, Luiten RM, Melief CJ, Tüting T, Garbi N, Hartmann G, Hornung V.

Immunity. 2016 Jun 21;44(6):1406-21. doi: 10.1016/j.immuni.2016.05.008. Epub 2016 Jun 7.

7.

Natural history of succinic semialdehyde dehydrogenase deficiency through adulthood.

Lapalme-Remis S, Lewis EC, De Meulemeester C, Chakraborty P, Gibson KM, Torres C, Guberman A, Salomons GS, Jakobs C, Ali-Ridha A, Parviz M, Pearl PL.

Neurology. 2015 Sep 8;85(10):861-5. doi: 10.1212/WNL.0000000000001906. Epub 2015 Aug 12.

8.

AIM2 Drives Joint Inflammation in a Self-DNA Triggered Model of Chronic Polyarthritis.

Jakobs C, Perner S, Hornung V.

PLoS One. 2015 Jun 26;10(6):e0131702. doi: 10.1371/journal.pone.0131702. eCollection 2015. Erratum in: PLoS One. 2018 Aug 9;13(8):e0202364.

9.

Extracorporeal photopheresis promotes IL-1β production.

Yakut E, Jakobs C, Peric A, Michel G, Baal N, Bein G, Brüne B, Hornung V, Hackstein H.

J Immunol. 2015 Mar 15;194(6):2569-77. doi: 10.4049/jimmunol.1400694. Epub 2015 Feb 13.

10.

Endovascular aneurysm repair of aortoiliac aneurysms with an iliac side-branched stent graft: studying the morphological applicability of the Cook device.

Gray D, Shahverdyan R, Jakobs C, Brunkwall J, Gawenda M.

Eur J Vasc Endovasc Surg. 2015 Mar;49(3):283-8. doi: 10.1016/j.ejvs.2014.12.021. Epub 2015 Feb 3.

11.

Methodical and pre-analytical characteristics of a multiplex cancer biomarker immunoassay.

Hermann N, Dreßen K, Schildberg FA, Jakobs C, Holdenrieder S.

World J Methodol. 2014 Dec 26;4(4):219-31. doi: 10.5662/wjm.v4.i4.219. eCollection 2014 Dec 26.

12.

Gp130-dependent signaling in the podocyte.

Nagayama Y, Braun GS, Jakobs CM, Maruta Y, van Roeyen CR, Klinkhammer BM, Boor P, Villa L, Raffetseder U, Trautwein C, Görtz D, Müller-Newen G, Ostendorf T, Floege J.

Am J Physiol Renal Physiol. 2014 Aug 1;307(3):F346-55. doi: 10.1152/ajprenal.00620.2013. Epub 2014 Jun 4.

14.

Lower limb salvage: indication and decision making for replantation, revascularisation and amputation.

Märdian S, Schaser KD, Wichlas F, Jakobs C, Kraphol B, Schwabe P.

Acta Chir Orthop Traumatol Cech. 2014;81(1):9-21. Review.

PMID:
24755062
15.

Post-transcriptional regulation of the creatine transporter gene: functional relevance of alternative splicing.

Ndika JD, Martinez-Munoz C, Anand N, van Dooren SJ, Kanhai W, Smith DE, Jakobs C, Salomons GS.

Biochim Biophys Acta. 2014 Jun;1840(6):2070-9. doi: 10.1016/j.bbagen.2014.02.012. Epub 2014 Feb 20.

PMID:
24561156
16.

Evidence for treatable inborn errors of metabolism in a cohort of 187 Greek patients with autism spectrum disorder (ASD).

Spilioti M, Evangeliou AE, Tramma D, Theodoridou Z, Metaxas S, Michailidi E, Bonti E, Frysira H, Haidopoulou A, Asprangathou D, Tsalkidis AJ, Kardaras P, Wevers RA, Jakobs C, Gibson KM.

Front Hum Neurosci. 2013 Dec 24;7:858. doi: 10.3389/fnhum.2013.00858. eCollection 2013.

17.

Metabolic syndrome components are associated with DNA hypomethylation.

Luttmer R, Spijkerman AM, Kok RM, Jakobs C, Blom HJ, Serne EH, Dekker JM, Smulders YM.

Obes Res Clin Pract. 2013 Mar-Apr;7(2):e106-e115. doi: 10.1016/j.orcp.2012.06.001.

PMID:
24331772
18.

Mild hemolytic anemia, progressive neuromotor retardation and fatal outcome: a disorder of glycolysis, triose- phosphate isomerase deficiency.

Sarper N, Zengin E, Jakobs C, Salomons GS, Mc Wamelink M, Ralser M, Kurt K, Kara B.

Turk J Pediatr. 2013 Mar-Apr;55(2):198-202.

PMID:
24192681
19.

Pyridoxine-dependent epilepsy due to antiquitin deficiency: achieving a favourable outcome.

Oliveira R, Pereira C, Rodrigues F, Alfaite C, Garcia P, Robalo C, Fineza I, Gonçalves O, Struys E, Salomons G, Jakobs C, Diogo L.

Epileptic Disord. 2013 Dec;15(4):400-6. doi: 10.1684/epd.2013.0610.

20.

Cloning and characterization of the promoter regions from the parent and paralogous creatine transporter genes.

Ndika JD, Lusink V, Beaubrun C, Kanhai W, Martinez-Munoz C, Jakobs C, Salomons GS.

Gene. 2014 Jan 10;533(2):488-93. doi: 10.1016/j.gene.2013.10.008. Epub 2013 Oct 18.

PMID:
24144841
21.

Novel association of early onset hepatocellular carcinoma with transaldolase deficiency.

Leduc CA, Crouch EE, Wilson A, Lefkowitch J, Wamelink MM, Jakobs C, Salomons GS, Sun X, Shen Y, Chung WK.

JIMD Rep. 2014;12:121-7. doi: 10.1007/8904_2013_254. Epub 2013 Oct 6.

22.

Novel cases of D-2-hydroxyglutaric aciduria with IDH1 or IDH2 mosaic mutations identified by amplicon deep sequencing.

Nota B, Hamilton EM, Sie D, Ozturk S, van Dooren SJ, Ojeda MR, Jakobs C, Christensen E, Kirk EP, Sykut-Cegielska J, Lund AM, van der Knaap MS, Salomons GS.

J Med Genet. 2013 Nov;50(11):754-9. doi: 10.1136/jmedgenet-2013-101961. Epub 2013 Sep 18.

PMID:
24049096
23.

Immunoblotting for active caspase-1.

Jakobs C, Bartok E, Kubarenko A, Bauernfeind F, Hornung V.

Methods Mol Biol. 2013;1040:103-15. doi: 10.1007/978-1-62703-523-1_9.

PMID:
23852600
24.

RIG-I detects triphosphorylated RNA of Listeria monocytogenes during infection in non-immune cells.

Hagmann CA, Herzner AM, Abdullah Z, Zillinger T, Jakobs C, Schuberth C, Coch C, Higgins PG, Wisplinghoff H, Barchet W, Hornung V, Hartmann G, Schlee M.

PLoS One. 2013 Apr 30;8(4):e62872. doi: 10.1371/journal.pone.0062872. Print 2013.

25.

Phenotype and genotype in 101 males with X-linked creatine transporter deficiency.

van de Kamp JM, Betsalel OT, Mercimek-Mahmutoglu S, Abulhoul L, Grünewald S, Anselm I, Azzouz H, Bratkovic D, de Brouwer A, Hamel B, Kleefstra T, Yntema H, Campistol J, Vilaseca MA, Cheillan D, D'Hooghe M, Diogo L, Garcia P, Valongo C, Fonseca M, Frints S, Wilcken B, von der Haar S, Meijers-Heijboer HE, Hofstede F, Johnson D, Kant SG, Lion-Francois L, Pitelet G, Longo N, Maat-Kievit JA, Monteiro JP, Munnich A, Muntau AC, Nassogne MC, Osaka H, Ounap K, Pinard JM, Quijano-Roy S, Poggenburg I, Poplawski N, Abdul-Rahman O, Ribes A, Arias A, Yaplito-Lee J, Schulze A, Schwartz CE, Schwenger S, Soares G, Sznajer Y, Valayannopoulos V, Van Esch H, Waltz S, Wamelink MM, Pouwels PJ, Errami A, van der Knaap MS, Jakobs C, Mancini GM, Salomons GS.

J Med Genet. 2013 Jul;50(7):463-72. doi: 10.1136/jmedgenet-2013-101658. Epub 2013 May 3.

PMID:
23644449
26.

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.

27.

D-2-hydroxyglutarate metabolism is linked to photorespiration in the shm1-1 mutant.

Kuhn A, Engqvist MK, Jansen EE, Weber AP, Jakobs C, Maurino VG.

Plant Biol (Stuttg). 2013 Jul;15(4):776-84. doi: 10.1111/plb.12020. Epub 2013 Apr 2.

PMID:
23551974
28.

Efficacy of vigabatrin intervention in a mild phenotypic expression of succinic semialdehyde dehydrogenase deficiency.

Casarano M, Alessandrì MG, Salomons GS, Moretti E, Jakobs C, Gibson KM, Cioni G, Battini R.

JIMD Rep. 2012;2:119-23. doi: 10.1007/8904_2011_60. Epub 2011 Sep 6.

29.

Transaldolase deficiency: report of 12 new cases and further delineation of the phenotype.

Eyaid W, Al Harbi T, Anazi S, Wamelink MM, Jakobs C, Al Salammah M, Al Balwi M, Alfadhel M, Alkuraya FS.

J Inherit Metab Dis. 2013 Nov;36(6):997-1004. doi: 10.1007/s10545-012-9577-8. Epub 2013 Jan 12.

PMID:
23315216
30.

iGLuc: a luciferase-based inflammasome and protease activity reporter.

Bartok E, Bauernfeind F, Khaminets MG, Jakobs C, Monks B, Fitzgerald KA, Latz E, Hornung V.

Nat Methods. 2013 Feb;10(2):147-154. doi: 10.1038/nmeth.2327. Epub 2013 Jan 6.

31.

Plasma choline and betaine correlate with serum folate, plasma S-adenosyl-methionine and S-adenosyl-homocysteine in healthy volunteers.

Imbard A, Smulders YM, Barto R, Smith DE, Kok RM, Jakobs C, Blom HJ.

Clin Chem Lab Med. 2013 Mar 1;51(3):683-92.

PMID:
23095202
32.

Guanidinoacetate methyltransferase deficiency: first steps to newborn screening for a treatable neurometabolic disease.

Mercimek-Mahmutoglu S, Sinclair G, van Dooren SJ, Kanhai W, Ashcraft P, Michel OJ, Nelson J, Betsalel OT, Sweetman L, Jakobs C, Salomons GS.

Mol Genet Metab. 2012 Nov;107(3):433-7. doi: 10.1016/j.ymgme.2012.07.022. Epub 2012 Aug 3.

PMID:
23031365
33.

Lysine restricted diet for pyridoxine-dependent epilepsy: first evidence and future trials.

van Karnebeek CD, Hartmann H, Jaggumantri S, Bok LA, Cheng B, Connolly M, Coughlin CR 2nd, Das AM, Gospe SM Jr, Jakobs C, van der Lee JH, Mercimek-Mahmutoglu S, Meyer U, Struys E, Sinclair G, Van Hove J, Collet JP, Plecko BR, Stockler S.

Mol Genet Metab. 2012 Nov;107(3):335-44. doi: 10.1016/j.ymgme.2012.09.006. Epub 2012 Sep 10.

34.

New insights into creatine transporter deficiency: the importance of recycling creatine in the brain.

van de Kamp JM, Jakobs C, Gibson KM, Salomons GS.

J Inherit Metab Dis. 2013 Jan;36(1):155-6. doi: 10.1007/s10545-012-9537-3. Epub 2012 Sep 12. No abstract available.

PMID:
22968583
35.

L-2-hydroxyglutaric aciduria in two female Yorkshire terriers.

Sanchez-Masian DF, Artuch R, Mascort J, Jakobs C, Salomons G, Zamora A, Casado M, Fernandez M, Recio A, Lujan A.

J Am Anim Hosp Assoc. 2012 Sep-Oct;48(5):366-71. doi: 10.5326/JAAHA-MS-5967. Epub 2012 Jul 27.

PMID:
22843824
36.

Long-term outcome in pyridoxine-dependent epilepsy.

Bok LA, Halbertsma FJ, Houterman S, Wevers RA, Vreeswijk C, Jakobs C, Struys E, Van Der Hoeven JH, Sival DA, Willemsen MA.

Dev Med Child Neurol. 2012 Sep;54(9):849-54. doi: 10.1111/j.1469-8749.2012.04347.x. Epub 2012 Jul 13.

37.

Thirty years beyond discovery--clinical trials in succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism.

Vogel KR, Pearl PL, Theodore WH, McCarter RC, Jakobs C, Gibson KM.

J Inherit Metab Dis. 2013 May;36(3):401-10. doi: 10.1007/s10545-012-9499-5. Epub 2012 Jun 28. Review.

38.

Profound neonatal hypoglycemia and lactic acidosis caused by pyridoxine-dependent epilepsy.

Mercimek-Mahmutoglu S, Horvath GA, Coulter-Mackie M, Nelson T, Waters PJ, Sargent M, Struys E, Jakobs C, Stockler-Ipsiroglu S, Connolly MB.

Pediatrics. 2012 May;129(5):e1368-72. doi: 10.1542/peds.2011-0123. Epub 2012 Apr 23.

PMID:
22529283
39.

Nephrological abnormalities in patients with transaldolase deficiency.

Loeffen YG, Biebuyck N, Wamelink MM, Jakobs C, Mulder MF, Tylki-Szymańska A, Fung CW, Valayannopoulos V, Bökenkamp A.

Nephrol Dial Transplant. 2012 Aug;27(8):3224-7. doi: 10.1093/ndt/gfs061. Epub 2012 Apr 17.

PMID:
22510381
40.

Asymmetric dimethylarginine in adults with cystathionine β-synthase deficiency.

Rocha MS, Teerlink T, Janssen MC, Kluijtmans LA, Smulders Y, Jakobs C, Tavares de Almeida I, Rivera I, Castro R, Blom HJ.

Atherosclerosis. 2012 Jun;222(2):509-11. doi: 10.1016/j.atherosclerosis.2012.03.009. Epub 2012 Mar 24.

PMID:
22484094
41.

Contiguous deletion of SLC6A8 and BAP31 in a patient with severe dystonia and sensorineural deafness.

Osaka H, Takagi A, Tsuyusaki Y, Wada T, Iai M, Yamashita S, Shimbo H, Saitsu H, Salomons GS, Jakobs C, Aida N, Toshihiro S, Kuhara T, Matsumoto N.

Mol Genet Metab. 2012 May;106(1):43-7. doi: 10.1016/j.ymgme.2012.02.018. Epub 2012 Mar 5.

PMID:
22472424
42.

Urinary AASA excretion is elevated in patients with molybdenum cofactor deficiency and isolated sulphite oxidase deficiency.

Mills PB, Footitt EJ, Ceyhan S, Waters PJ, Jakobs C, Clayton PT, Struys EA.

J Inherit Metab Dis. 2012 Nov;35(6):1031-6. doi: 10.1007/s10545-012-9466-1. Epub 2012 Mar 9.

PMID:
22403017
43.

Progress in understanding 2-hydroxyglutaric acidurias.

Kranendijk M, Struys EA, Salomons GS, Van der Knaap MS, Jakobs C.

J Inherit Metab Dis. 2012 Jul;35(4):571-87. doi: 10.1007/s10545-012-9462-5. Epub 2012 Mar 6. Review.

44.

Developmental progress and creatine restoration upon long-term creatine supplementation of a patient with arginine:glycine amidinotransferase deficiency.

Ndika JD, Johnston K, Barkovich JA, Wirt MD, O'Neill P, Betsalel OT, Jakobs C, Salomons GS.

Mol Genet Metab. 2012 May;106(1):48-54. doi: 10.1016/j.ymgme.2012.01.017. Epub 2012 Jan 27.

PMID:
22386973
45.

Atypical pyridoxine-dependent epilepsy due to a pseudoexon in ALDH7A1.

Milh M, Pop A, Kanhai W, Villeneuve N, Cano A, Struys EA, Salomons GS, Chabrol B, Jakobs C.

Mol Genet Metab. 2012 Apr;105(4):684-6. doi: 10.1016/j.ymgme.2012.01.011. Epub 2012 Jan 20.

PMID:
22305855
46.

Detection of variants in SLC6A8 and functional analysis of unclassified missense variants.

Betsalel OT, Pop A, Rosenberg EH, Fernandez-Ojeda M; Creatine Transporter Research, Group, Jakobs C, Salomons GS.

Mol Genet Metab. 2012 Apr;105(4):596-601. doi: 10.1016/j.ymgme.2011.12.022. Epub 2012 Jan 6.

PMID:
22281021
47.

The measurement of urinary Δ¹-piperideine-6-carboxylate, the alter ego of α-aminoadipic semialdehyde, in Antiquitin deficiency.

Struys EA, Bok LA, Emal D, Houterman S, Willemsen MA, Jakobs C.

J Inherit Metab Dis. 2012 Sep;35(5):909-16. doi: 10.1007/s10545-011-9443-0. Epub 2012 Jan 17.

48.

Homocysteine-induced apoptosis in endothelial cells coincides with nuclear NOX2 and peri-nuclear NOX4 activity.

Sipkens JA, Hahn N, van den Brand CS, Meischl C, Cillessen SA, Smith DE, Juffermans LJ, Musters RJ, Roos D, Jakobs C, Blom HJ, Smulders YM, Krijnen PA, Stehouwer CD, Rauwerda JA, van Hinsbergh VW, Niessen HW.

Cell Biochem Biophys. 2013 Nov;67(2):341-52. doi: 10.1007/s12013-011-9297-y.

49.

Evaluation of two year treatment outcome and limited impact of arginine restriction in a patient with GAMT deficiency.

Mercimek-Mahmutoglu S, Dunbar M, Friesen A, Garret S, Hartnett C, Huh L, Sinclair G, Stockler S, Wellington S, Pouwels PJ, Salomons GS, Jakobs C.

Mol Genet Metab. 2012 Jan;105(1):155-8. doi: 10.1016/j.ymgme.2011.09.037. Epub 2011 Oct 6.

PMID:
22019491
50.

Adenosine kinase deficiency disrupts the methionine cycle and causes hypermethioninemia, encephalopathy, and abnormal liver function.

Bjursell MK, Blom HJ, Cayuela JA, Engvall ML, Lesko N, Balasubramaniam S, Brandberg G, Halldin M, Falkenberg M, Jakobs C, Smith D, Struys E, von Döbeln U, Gustafsson CM, Lundeberg J, Wedell A.

Am J Hum Genet. 2011 Oct 7;89(4):507-15. doi: 10.1016/j.ajhg.2011.09.004. Epub 2011 Sep 28.

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