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Items: 1 to 50 of 83

1.

Genetic, structural, and functional analysis of pathogenic variations causing methylmalonyl-CoA epimerase deficiency.

Heuberger K, Bailey HJ, Burda P, Chaikuad A, Krysztofinska E, Suormala T, Bürer C, Lutz S, Fowler B, Froese DS, Yue WW, Baumgartner MR.

Biochim Biophys Acta Mol Basis Dis. 2019 Jun 1;1865(6):1265-1272. doi: 10.1016/j.bbadis.2019.01.021. Epub 2019 Jan 22.

2.

miR-150 downregulation contributes to the high-grade transformation of follicular lymphoma by upregulating FOXP1 levels.

Musilova K, Devan J, Cerna K, Seda V, Pavlasova G, Sharma S, Oppelt J, Pytlik R, Prochazka V, Prouzova Z, Trbusek M, Zlamalikova L, Liskova K, Kruzova L, Jarosova M, Mareckova A, Kornauth C, Simonitsch-Klupp I, Schiefer AI, Merkel O, Mocikova H, Burda P, Machova Polakova K, Kren L, Mayer J, Zent CS, Trneny M, Evans AG, Janikova A, Mraz M.

Blood. 2018 Nov 29;132(22):2389-2400. doi: 10.1182/blood-2018-06-855502. Epub 2018 Sep 13.

PMID:
30213873
3.

BCR-ABL1 mediated miR-150 downregulation through MYC contributed to myeloid differentiation block and drug resistance in chronic myeloid leukemia.

Srutova K, Curik N, Burda P, Savvulidi F, Silvestri G, Trotta R, Klamova H, Pecherkova P, Sovova Z, Koblihova J, Stopka T, Perrotti D, Polakova KM.

Haematologica. 2018 Dec;103(12):2016-2025. doi: 10.3324/haematol.2018.193086. Epub 2018 Jul 26.

4.

High-resolution capillary zone electrophoresis for transferrin glycoform analysis associated with congenital disorders of glycosylation.

Tobler M, Caslavska J, Burda P, Thormann W.

J Sep Sci. 2018 Jul;41(13):2808-2818. doi: 10.1002/jssc.201800082. Epub 2018 May 28.

PMID:
29701302
5.

BioID Reveals Novel Proteins of the Plasmodium Parasitophorous Vacuole Membrane.

Schnider CB, Bausch-Fluck D, Brühlmann F, Heussler VT, Burda PC.

mSphere. 2018 Jan 24;3(1). pii: e00522-17. doi: 10.1128/mSphere.00522-17. eCollection 2018 Jan-Feb.

6.

A Plasmodium plasma membrane reporter reveals membrane dynamics by live-cell microscopy.

Burda PC, Schaffner M, Kaiser G, Roques M, Zuber B, Heussler VT.

Sci Rep. 2017 Aug 29;7(1):9740. doi: 10.1038/s41598-017-09569-4.

7.

Generation of transgenic rodent malaria parasites by transfection of cell culture-derived merozoites.

Kaiser G, De Niz M, Burda PC, Niklaus L, Stanway RL, Heussler V.

Malar J. 2017 Aug 1;16(1):305. doi: 10.1186/s12936-017-1949-y.

8.

Clinical or ATPase domain mutations in ABCD4 disrupt the interaction between the vitamin B12-trafficking proteins ABCD4 and LMBD1.

Fettelschoss V, Burda P, Sagné C, Coelho D, De Laet C, Lutz S, Suormala T, Fowler B, Pietrancosta N, Gasnier B, Bornhauser B, Froese DS, Baumgartner MR.

J Biol Chem. 2017 Jul 14;292(28):11980-11991. doi: 10.1074/jbc.M117.784819. Epub 2017 Jun 1.

9.

Manipulation of the Host Cell Membrane during Plasmodium Liver Stage Egress.

Burda PC, Caldelari R, Heussler VT.

MBio. 2017 Apr 11;8(2). pii: e00139-17. doi: 10.1128/mBio.00139-17.

10.

Analysis of genetic variants of transferrin in human serum after desialylation by capillary zone electrophoresis and capillary isoelectric focusing.

Caslavska J, Lanz C, Burda P, Tobler M, Thormann W.

J Sep Sci. 2017 Jun;40(11):2488-2497. doi: 10.1002/jssc.201700211. Epub 2017 Apr 24.

PMID:
28371325
11.

Progress in imaging methods: insights gained into Plasmodium biology.

De Niz M, Burda PC, Kaiser G, Del Portillo HA, Spielmann T, Frischknecht F, Heussler VT.

Nat Rev Microbiol. 2017 Jan;15(1):37-54. doi: 10.1038/nrmicro.2016.158. Epub 2016 Nov 28. Review.

PMID:
27890922
12.

(5aR)-5a-C-Pentyl-4-epi-isofagomine: A powerful inhibitor of lysosomal β-galactosidase and a remarkable chaperone for mutations associated with GM1-gangliosidosis and Morquio disease type B.

Front S, Biela-Banaś A, Burda P, Ballhausen D, Higaki K, Caciotti A, Morrone A, Charollais-Thoenig J, Gallienne E, Demotz S, Martin OR.

Eur J Med Chem. 2017 Jan 27;126:160-170. doi: 10.1016/j.ejmech.2016.09.095. Epub 2016 Sep 29.

PMID:
27750150
13.

Functional characterization of missense mutations in severe methylenetetrahydrofolate reductase deficiency using a human expression system.

Burda P, Suormala T, Heuberger D, Schäfer A, Fowler B, Froese DS, Baumgartner MR.

J Inherit Metab Dis. 2017 Mar;40(2):297-306. doi: 10.1007/s10545-016-9987-0. Epub 2016 Oct 14.

PMID:
27743313
14.

Glycosylation site occupancy in health, congenital disorder of glycosylation and fatty liver disease.

Hülsmeier AJ, Tobler M, Burda P, Hennet T.

Sci Rep. 2016 Oct 11;6:33927. doi: 10.1038/srep33927.

15.

Distinct and overlapping DNMT1 interactions with multiple transcription factors in erythroid cells: Evidence for co-repressor functions.

Papageorgiou DN, Karkoulia E, Amaral-Psarris A, Burda P, Kolodziej K, Demmers J, Bungert J, Stopka T, Strouboulis J.

Biochim Biophys Acta. 2016 Dec;1859(12):1515-1526. doi: 10.1016/j.bbagrm.2016.09.007. Epub 2016 Sep 28.

PMID:
27693117
16.

High resolution microscopy reveals an unusual architecture of the Plasmodium berghei endoplasmic reticulum.

Kaiser G, De Niz M, Zuber B, Burda PC, Kornmann B, Heussler VT, Stanway RR.

Mol Microbiol. 2016 Dec;102(5):775-791. doi: 10.1111/mmi.13490. Epub 2016 Sep 26.

17.

Novel Mouse Models of Methylmalonic Aciduria Recapitulate Phenotypic Traits with a Genetic Dosage Effect.

Forny P, Schumann A, Mustedanagic M, Mathis D, Wulf MA, Nägele N, Langhans CD, Zhakupova A, Heeren J, Scheja L, Fingerhut R, Peters HL, Hornemann T, Thony B, Kölker S, Burda P, Froese DS, Devuyst O, Baumgartner MR.

J Biol Chem. 2016 Sep 23;291(39):20563-73. doi: 10.1074/jbc.M116.747717. Epub 2016 Aug 12.

18.

Exome Sequencing and the Management of Neurometabolic Disorders.

Tarailo-Graovac M, Shyr C, Ross CJ, Horvath GA, Salvarinova R, Ye XC, Zhang LH, Bhavsar AP, Lee JJ, Drögemöller BI, Abdelsayed M, Alfadhel M, Armstrong L, Baumgartner MR, Burda P, Connolly MB, Cameron J, Demos M, Dewan T, Dionne J, Evans AM, Friedman JM, Garber I, Lewis S, Ling J, Mandal R, Mattman A, McKinnon M, Michoulas A, Metzger D, Ogunbayo OA, Rakic B, Rozmus J, Ruben P, Sayson B, Santra S, Schultz KR, Selby K, Shekel P, Sirrs S, Skrypnyk C, Superti-Furga A, Turvey SE, Van Allen MI, Wishart D, Wu J, Wu J, Zafeiriou D, Kluijtmans L, Wevers RA, Eydoux P, Lehman AM, Vallance H, Stockler-Ipsiroglu S, Sinclair G, Wasserman WW, van Karnebeek CD.

N Engl J Med. 2016 Jun 9;374(23):2246-55. doi: 10.1056/NEJMoa1515792. Epub 2016 May 25.

19.

GATA-1 Inhibits PU.1 Gene via DNA and Histone H3K9 Methylation of Its Distal Enhancer in Erythroleukemia.

Burda P, Vargova J, Curik N, Salek C, Papadopoulos GL, Strouboulis J, Stopka T.

PLoS One. 2016 Mar 24;11(3):e0152234. doi: 10.1371/journal.pone.0152234. eCollection 2016.

20.

Mutation Update and Review of Severe Methylenetetrahydrofolate Reductase Deficiency.

Froese DS, Huemer M, Suormala T, Burda P, Coelho D, Guéant JL, Landolt MA, Kožich V, Fowler B, Baumgartner MR.

Hum Mutat. 2016 May;37(5):427-38. doi: 10.1002/humu.22970. Epub 2016 Mar 18.

PMID:
26872964
21.

Gravity and the Stability of the Higgs Vacuum.

Burda P, Gregory R, Moss IG.

Phys Rev Lett. 2015 Aug 14;115(7):071303. Epub 2015 Aug 13.

PMID:
26317708
22.

Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency.

Huemer M, Mulder-Bleile R, Burda P, Froese DS, Suormala T, Zeev BB, Chinnery PF, Dionisi-Vici C, Dobbelaere D, Gökcay G, Demirkol M, Häberle J, Lossos A, Mengel E, Morris AA, Niezen-Koning KE, Plecko B, Parini R, Rokicki D, Schiff M, Schimmel M, Sewell AC, Sperl W, Spiekerkoetter U, Steinmann B, Taddeucci G, Trejo-Gabriel-Galán JM, Trefz F, Tsuji M, Vilaseca MA, von Kleist-Retzow JC, Walker V, Zeman J, Baumgartner MR, Fowler B.

J Inherit Metab Dis. 2016 Jan;39(1):115-24. doi: 10.1007/s10545-015-9860-6. Epub 2015 May 30.

23.

Hepatic glycogen storage disorders: what have we learned in recent years?

Burda P, Hochuli M.

Curr Opin Clin Nutr Metab Care. 2015 Jul;18(4):415-21. doi: 10.1097/MCO.0000000000000181. Review.

24.

Resisting infection by Plasmodium berghei increases the sensitivity of the malaria vector Anopheles gambiae to DDT.

Saddler A, Burda PC, Koella JC.

Malar J. 2015 Mar 28;14:134. doi: 10.1186/s12936-015-0646-y.

25.

Splice-shifting oligonucleotide (SSO) mediated blocking of an exonic splicing enhancer (ESE) created by the prevalent c.903+469T>C MTRR mutation corrects splicing and restores enzyme activity in patient cells.

Palhais B, Præstegaard VS, Sabaratnam R, Doktor TK, Lutz S, Burda P, Suormala T, Baumgartner M, Fowler B, Bruun GH, Andersen HS, Kožich V, Andresen BS.

Nucleic Acids Res. 2015 May 19;43(9):4627-39. doi: 10.1093/nar/gkv275. Epub 2015 Apr 15.

26.

LC-MS/MS based assay and reference intervals in children and adolescents for oxysterols elevated in Niemann-Pick diseases.

Klinke G, Rohrbach M, Giugliani R, Burda P, Baumgartner MR, Tran C, Gautschi M, Mathis D, Hersberger M.

Clin Biochem. 2015 Jun;48(9):596-602. doi: 10.1016/j.clinbiochem.2015.03.007. Epub 2015 Mar 25.

PMID:
25819840
27.

A Plasmodium phospholipase is involved in disruption of the liver stage parasitophorous vacuole membrane.

Burda PC, Roelli MA, Schaffner M, Khan SM, Janse CJ, Heussler VT.

PLoS Pathog. 2015 Mar 18;11(3):e1004760. doi: 10.1371/journal.ppat.1004760. eCollection 2015 Mar.

28.

Insights into severe 5,10-methylenetetrahydrofolate reductase deficiency: molecular genetic and enzymatic characterization of 76 patients.

Burda P, Schäfer A, Suormala T, Rummel T, Bürer C, Heuberger D, Frapolli M, Giunta C, Sokolová J, Vlášková H, Kožich V, Koch HG, Fowler B, Froese DS, Baumgartner MR.

Hum Mutat. 2015 Jun;36(6):611-21. doi: 10.1002/humu.22779. Epub 2015 Apr 27.

PMID:
25736335
29.

Characterization and review of MTHFD1 deficiency: four new patients, cellular delineation and response to folic and folinic acid treatment.

Burda P, Kuster A, Hjalmarson O, Suormala T, Bürer C, Lutz S, Roussey G, Christa L, Asin-Cayuela J, Kollberg G, Andersson BA, Watkins D, Rosenblatt DS, Fowler B, Holme E, Froese DS, Baumgartner MR.

J Inherit Metab Dis. 2015 Sep;38(5):863-72. doi: 10.1007/s10545-015-9810-3. Epub 2015 Jan 30. Review.

PMID:
25633902
30.

A novel regulatory macrophage induced by a helminth molecule instructs IL-10 in CD4+ T cells and protects against mucosal inflammation.

Ziegler T, Rausch S, Steinfelder S, Klotz C, Hepworth MR, Kühl AA, Burda PC, Lucius R, Hartmann S.

J Immunol. 2015 Feb 15;194(4):1555-64. doi: 10.4049/jimmunol.1401217. Epub 2015 Jan 14.

31.

Early co-occurrence of a neurologic-psychiatric disease pattern in Niemann-Pick type C disease: a retrospective Swiss cohort study.

Abela L, Plecko B, Palla A, Burda P, Nuoffer JM, Ballhausen D, Rohrbach M.

Orphanet J Rare Dis. 2014 Nov 26;9:176. doi: 10.1186/s13023-014-0176-7.

32.

A cysteine protease inhibitor of plasmodium berghei is essential for exo-erythrocytic development.

Lehmann C, Heitmann A, Mishra S, Burda PC, Singer M, Prado M, Niklaus L, Lacroix C, Ménard R, Frischknecht F, Stanway R, Sinnis P, Heussler V.

PLoS Pathog. 2014 Aug 28;10(8):e1004336. doi: 10.1371/journal.ppat.1004336. eCollection 2014 Aug.

33.

Oncogenic microRNAs: miR-155, miR-19a, miR-181b, and miR-24 enable monitoring of early breast cancer in serum.

Sochor M, Basova P, Pesta M, Dusilkova N, Bartos J, Burda P, Pospisil V, Stopka T.

BMC Cancer. 2014 Jun 18;14:448. doi: 10.1186/1471-2407-14-448.

34.

Characterization of functional domains of the cblD (MMADHC) gene product.

Jusufi J, Suormala T, Burda P, Fowler B, Froese DS, Baumgartner MR.

J Inherit Metab Dis. 2014 Sep;37(5):841-9. doi: 10.1007/s10545-014-9709-4. Epub 2014 Apr 11.

PMID:
24722857
35.

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.

36.

[Medical analytical toxicology in Poland in year 2012].

Burda P, Gomółka E, Winnicka R, Olszowy Z, Madej T, Wendeker B, Sommerfeld K, Zajko E.

Przegl Lek. 2013;70(8):490-9. Polish.

PMID:
24466680
37.

Aggressive acute myeloid leukemia in PU.1/p53 double-mutant mice.

Basova P, Pospisil V, Savvulidi F, Burda P, Vargova K, Stanek L, Dluhosova M, Kuzmova E, Jonasova A, Steidl U, Laslo P, Stopka T.

Oncogene. 2014 Sep 25;33(39):4735-45. doi: 10.1038/onc.2013.414. Epub 2013 Oct 14.

PMID:
24121269
38.

Plasmodium berghei MAPK1 displays differential and dynamic subcellular localizations during liver stage development.

Wierk JK, Langbehn A, Kamper M, Richter S, Burda PC, Heussler VT, Deschermeier C.

PLoS One. 2013;8(3):e59755. doi: 10.1371/journal.pone.0059755. Epub 2013 Mar 27.

39.

Features of autophagic cell death in Plasmodium liver-stage parasites.

Eickel N, Kaiser G, Prado M, Burda PC, Roelli M, Stanway RR, Heussler VT.

Autophagy. 2013 Apr;9(4):568-80. doi: 10.4161/auto.23689. Epub 2013 Feb 6.

40.

[Management of acute intoxication with paracetamol--Polish Medical Society, Section of Clinical Toxicology position statement].

Waldman W, Groszek B, Burda P, Wiśniewski M, Sein Anand J; Polish Medical Society, Section of Clinical Toxicology.

Przegl Lek. 2012;69(8):466-9. Review. Polish.

PMID:
23243910
41.

[Management of acute carbon monoxide poisoning--Polish Medical Society, Section of Clinical Toxicology position statement].

Burda P, Kołaciński Z, Łukasik-Głebocka M, Sein Anand J; Polish Medical Society, Section of Clinical Toxicology.

Przegl Lek. 2012;69(8):463-5. Review. Polish.

PMID:
23243909
42.

Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism.

Coelho D, Kim JC, Miousse IR, Fung S, du Moulin M, Buers I, Suormala T, Burda P, Frapolli M, Stucki M, Nürnberg P, Thiele H, Robenek H, Höhne W, Longo N, Pasquali M, Mengel E, Watkins D, Shoubridge EA, Majewski J, Rosenblatt DS, Fowler B, Rutsch F, Baumgartner MR.

Nat Genet. 2012 Oct;44(10):1152-5. doi: 10.1038/ng.2386. Epub 2012 Aug 26.

PMID:
22922874
43.

3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals.

Grünert SC, Stucki M, Morscher RJ, Suormala T, Bürer C, Burda P, Christensen E, Ficicioglu C, Herwig J, Kölker S, Möslinger D, Pasquini E, Santer R, Schwab KO, Wilcken B, Fowler B, Yue WW, Baumgartner MR.

Orphanet J Rare Dis. 2012 May 29;7:31. doi: 10.1186/1750-1172-7-31.

44.

5-azacitidine in aggressive myelodysplastic syndromes regulates chromatin structure at PU.1 gene and cell differentiation capacity.

Curik N, Burda P, Vargova K, Pospisil V, Belickova M, Vlckova P, Savvulidi F, Necas E, Hajkova H, Haskovec C, Cermak J, Krivjanska M, Trneny M, Laslo P, Jonasova A, Stopka T.

Leukemia. 2012 Aug;26(8):1804-11. doi: 10.1038/leu.2012.47. Epub 2012 Feb 20.

PMID:
22343522
45.

A single mutation in MCCC1 or MCCC2 as a potential cause of positive screening for 3-methylcrotonyl-CoA carboxylase deficiency.

Morscher RJ, Grünert SC, Bürer C, Burda P, Suormala T, Fowler B, Baumgartner MR.

Mol Genet Metab. 2012 Apr;105(4):602-6. doi: 10.1016/j.ymgme.2011.12.018. Epub 2011 Dec 31.

PMID:
22264772
46.

Molecular mechanisms leading to three different phenotypes in the cblD defect of intracellular cobalamin metabolism.

Stucki M, Coelho D, Suormala T, Burda P, Fowler B, Baumgartner MR.

Hum Mol Genet. 2012 Mar 15;21(6):1410-8. doi: 10.1093/hmg/ddr579. Epub 2011 Dec 8.

47.

[Management of acute cyanide poisoning--Polish Medical Society, Section of Clinical Toxicology position statement].

Kołaciński Z, Burda P, Łukasik-Głebocka M, Sein Anand J; Polish Medical Society, Clinical Toxicology Section.

Przegl Lek. 2011;68(8):459-62. Review. Polish.

PMID:
22010437
48.

[Selected data of acute intoxications with glycol and methanol in Poland in the year 2009].

Sein Anand J, Swiderska A, Pach J, Burda P.

Przegl Lek. 2011;68(8):453-8. Polish.

PMID:
22010436
49.

Expression patterns of microRNAs associated with CML phases and their disease related targets.

Machová Poláková K, Lopotová T, Klamová H, Burda P, Trněný M, Stopka T, Moravcová J.

Mol Cancer. 2011 Apr 18;10:41. doi: 10.1186/1476-4598-10-41.

50.

MYB transcriptionally regulates the miR-155 host gene in chronic lymphocytic leukemia.

Vargova K, Curik N, Burda P, Basova P, Kulvait V, Pospisil V, Savvulidi F, Kokavec J, Necas E, Berkova A, Obrtlikova P, Karban J, Mraz M, Pospisilova S, Mayer J, Trneny M, Zavadil J, Stopka T.

Blood. 2011 Apr 7;117(14):3816-25. doi: 10.1182/blood-2010-05-285064. Epub 2011 Feb 4.

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