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Replacement of alpha-galactosidase A in Fabry disease: effect on fibroblast cultures compared with biopsied tissues of treated patients.
Keslová-Veselíková J, Hůlková H, Dobrovolný R, Asfaw B, Poupetová H, Berná L, Sikora J, Golán L, Ledvinová J, Elleder M. Keslová-Veselíková J, et al. Among authors: hulkova h. Virchows Arch. 2008 Jun;452(6):651-65. doi: 10.1007/s00428-008-0586-9. Epub 2008 Mar 20. Virchows Arch. 2008. PMID: 18351385 Free PMC article.
Loss of function of Sco1 and its interaction with cytochrome c oxidase.
Stiburek L, Vesela K, Hansikova H, Hulkova H, Zeman J. Stiburek L, et al. Among authors: hulkova h. Am J Physiol Cell Physiol. 2009 May;296(5):C1218-26. doi: 10.1152/ajpcell.00564.2008. Epub 2009 Mar 18. Am J Physiol Cell Physiol. 2009. PMID: 19295170 Free article.
Mutation of Nogo-B receptor, a subunit of cis-prenyltransferase, causes a congenital disorder of glycosylation.
Park EJ, Grabińska KA, Guan Z, Stránecký V, Hartmannová H, Hodaňová K, Barešová V, Sovová J, Jozsef L, Ondrušková N, Hansíková H, Honzík T, Zeman J, Hůlková H, Wen R, Kmoch S, Sessa WC. Park EJ, et al. Among authors: hulkova h. Cell Metab. 2014 Sep 2;20(3):448-57. doi: 10.1016/j.cmet.2014.06.016. Epub 2014 Jul 24. Cell Metab. 2014. PMID: 25066056 Free PMC article.
Neuroinflammation, mitochondrial defects and neurodegeneration in mucopolysaccharidosis III type C mouse model.
Martins C, Hůlková H, Dridi L, Dormoy-Raclet V, Grigoryeva L, Choi Y, Langford-Smith A, Wilkinson FL, Ohmi K, DiCristo G, Hamel E, Ausseil J, Cheillan D, Moreau A, Svobodová E, Hájková Z, Tesařová M, Hansíková H, Bigger BW, Hrebícek M, Pshezhetsky AV. Martins C, et al. Among authors: hulkova h. Brain. 2015 Feb;138(Pt 2):336-55. doi: 10.1093/brain/awu355. Epub 2015 Jan 6. Brain. 2015. PMID: 25567323 Free PMC article.
65 results