PubMed

Hosokawa H, Dip PV, Merkulova M, Bakulina A, Zhuang Z, Khatri A, Jian X, Keating SM, Bueler SA, Rubinstein JL, Randazzo PA, Ausiello DA, Grüber G, Marshansky V.

J Biol Chem. 2013 Feb 22;288(8):5896-913. doi: 10.1074/jbc.M112.409169. Epub 2013 Jan 3.

Fischer B, Dimopoulou A, Egerer J, Gardeitchik T, Kidd A, Jost D, Kayserili H, Alanay Y, Tantcheva-Poor I, Mangold E, Daumer-Haas C, Phadke S, Peirano RI, Heusel J, Desphande C, Gupta N, Nanda A, Felix E, Berry-Kravis E, Kabra M, Wevers RA, van Maldergem L, Mundlos S, Morava E, Kornak U.

Hum Genet. 2012 Nov;131(11):1761-73. doi: 10.1007/s00439-012-1197-8. Epub 2012 Jul 8.

Mohamed M, Kouwenberg D, Gardeitchik T, Kornak U, Wevers RA, Morava E.

J Inherit Metab Dis. 2011 Aug;34(4):907-16. doi: 10.1007/s10545-011-9305-9. Epub 2011 Mar 23. Review.

Mohamed M, Guillard M, Wortmann SB, Cirak S, Marklova E, Michelakakis H, Korsch E, Adamowicz M, Koletzko B, van Spronsen FJ, Niezen-Koning KE, Matthijs G, Gardeitchik T, Kouwenberg D, Lim BC, Zeevaert R, Wevers RA, Lefeber DJ, Morava E.

Biochim Biophys Acta. 2011 Jun;1812(6):691-8. doi: 10.1016/j.bbadis.2011.02.011. Epub 2011 Mar 17.

Rahman S, Ishizuka-Katsura Y, Arai S, Saijo S, Yamato I, Toyama M, Ohsawa N, Inoue M, Honda K, Terada T, Shirouzu M, Yokoyama S, Iwata S, Murata T.

Protein Expr Purif. 2011 Aug;78(2):181-8. doi: 10.1016/j.pep.2011.02.012. Epub 2011 Feb 26.

Merkulova M, Hurtado-Lorenzo A, Hosokawa H, Zhuang Z, Brown D, Ausiello DA, Marshansky V.

Am J Physiol Cell Physiol. 2011 Jun;300(6):C1442-55. doi: 10.1152/ajpcell.00076.2010. Epub 2011 Feb 9.

Guillard M, Morava E, van Delft FL, Hague R, Körner C, Adamowicz M, Wevers RA, Lefeber DJ.

Clin Chem. 2011 Apr;57(4):593-602. doi: 10.1373/clinchem.2010.153635. Epub 2011 Jan 27.

Kartner N, Yao Y, Li K, Crasto GJ, Datti A, Manolson MF.

J Biol Chem. 2010 Nov 26;285(48):37476-90. doi: 10.1074/jbc.M110.123281. Epub 2010 Sep 13.

Merkulova M, McKee M, Dip PV, Grüber G, Marshansky V.

Protein Sci. 2010 Oct;19(10):1850-62. doi: 10.1002/pro.470.

Merkulova M, Bakulina A, Thaker YR, Grüber G, Marshansky V.

Biochim Biophys Acta. 2010 Aug;1797(8):1398-409. doi: 10.1016/j.bbabio.2010.02.009. Epub 2010 Feb 11.

Leao-Teles E, Quelhas D, Vilarinho L, Jaeken J.

Eur J Hum Genet. 2010 May;18(5):526; author reply 526. doi: 10.1038/ejhg.2009.218. Epub 2009 Dec 16. No abstract available.

Morava E, Guillard M, Lefeber DJ, Wevers RA.

Eur J Hum Genet. 2009 Sep;17(9):1099-110. doi: 10.1038/ejhg.2009.22. Epub 2009 Apr 29. Review.

Hinton A, Sennoune SR, Bond S, Fang M, Reuveni M, Sahagian GG, Jay D, Martinez-Zaguilan R, Forgac M.

J Biol Chem. 2009 Jun 12;284(24):16400-8. doi: 10.1074/jbc.M901201200. Epub 2009 Apr 14.

Hucthagowder V, Morava E, Kornak U, Lefeber DJ, Fischer B, Dimopoulou A, Aldinger A, Choi J, Davis EC, Abuelo DN, Adamowicz M, Al-Aama J, Basel-Vanagaite L, Fernandez B, Greally MT, Gillessen-Kaesbach G, Kayserili H, Lemyre E, Tekin M, Türkmen S, Tuysuz B, Yüksel-Konuk B, Mundlos S, Van Maldergem L, Wevers RA, Urban Z.

Hum Mol Genet. 2009 Jun 15;18(12):2149-65. doi: 10.1093/hmg/ddp148. Epub 2009 Mar 25.

Guillard M, Dimopoulou A, Fischer B, Morava E, Lefeber DJ, Kornak U, Wevers RA.

Biochim Biophys Acta. 2009 Sep;1792(9):903-14. doi: 10.1016/j.bbadis.2008.12.009. Epub 2009 Jan 8. Review.

Noordam C, Funke S, Knoers NV, Jira P, Wevers RA, Urban Z, Morava E.

Acta Paediatr. 2009 Mar;98(3):490-4. doi: 10.1111/j.1651-2227.2008.01145.x. Epub 2008 Dec 4.

Newman WG, Clayton-Smith J, Metcalfe K, Cole R, Tartaglia M, Brancati F, Morara S, Novelli A, Liu X, Siminovitch KA, Mundlos S, Tassabehji M, Black GC.

Am J Med Genet A. 2008 Dec 1;146A(23):3034-7. doi: 10.1002/ajmg.a.32564.

Kornak U, Reynders E, Dimopoulou A, van Reeuwijk J, Fischer B, Rajab A, Budde B, Nürnberg P, Foulquier F; ARCL Debré-type Study Group, Lefeber D, Urban Z, Gruenewald S, Annaert W, Brunner HG, van Bokhoven H, Wevers R, Morava E, Matthijs G, Van Maldergem L, Mundlos S.

Nat Genet. 2008 Jan;40(1):32-4. Epub 2007 Dec 23.

Xu J, Cheng T, Feng HT, Pavlos NJ, Zheng MH.

Histol Histopathol. 2007 Apr;22(4):443-54. Review.

Hurtado-Lorenzo A, Skinner M, El Annan J, Futai M, Sun-Wada GH, Bourgoin S, Casanova J, Wildeman A, Bechoua S, Ausiello DA, Brown D, Marshansky V.

Nat Cell Biol. 2006 Feb;8(2):124-36. Epub 2006 Jan 15.