Publikace v roce 2008

Publikace pracovníků ÚDMP v odborných časopisech v roce 2008

  1. Cizkova A, Stranecky V, Mayr JA, Tesařová M, Havlíčková V, Paul J, Ivanek R, Kuss AW, Hansíkova H, Kapanova V, Vrbacký M, Hartmannova H, Noskova L, Honzik T, Drahota Z, Magner M, Hejzlarová K, Sperl W, Zeman J, Houštěk J, Kmoch S. TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy. Nature Genetics 2008;40(11): 1288-1290. IF 25,556

  2. Gupta S, Wang L, Hua X, Krijt J, Kožich V, Kruger WD. Cystathionine beta-synthase p.S466L mutation causes hyperhomocysteinemia in mice. Hum Mutat. 2008 Aug;29(8): 1048-54 IF 6,273

  3. Hervouet E, Čížková A, Demont J, Vojtíšková A, Pecina P, Franssen-van-Hal NLW, Keijer J, Simonnet H, Ivánek R, Kmoch S, Godinot C, Houštěk J. HIF and reactive oxygen species regulate oxidative phosphorylation in cancer. Carcinogenesis 2008;29(8): 1528-1 537. IF 5,406

  4. Čížková A, Stránecký V, Ivánek R, Hartmannova H, Noskova L, Piherova L, Tesařová M, Hansíková H, Honzík T, Zeman J, Divina P, Potocka A, Paul J, Sperl W, Mayr JA, Seneca S, Houstek J, Kmoch S. Development of a human mitochondrial oligonucleotide microarray (h-MitoArray) and gene expression analysis of fibroblast cell lines from 13 patients with isolated FIFoATP synthase deficiency. BMC Genomics 2008;9:3 8 IF 4,180

  5. Elleder M, Dvorakova L, Stolnaja L, Vlaskova H, Hulkova H, Druga R, Poupetova H, Kostalova E, Mikulastik J. Atypical CLN2 with later onset and prolonged course: a neuropathologic study showing different sensitivity of neuronal subpopulations to TPPl deficiency. Acta Neuropathol. 2008 Jul;116(1):119-24. IF 3,179

  6. Hůlková H, Druga R, Ondrejovic P, Elleder M. Subpial astrocytosis and focal leptomeningeal angiotropic astrocytosis leading to vascular compression: observations made in a case of mitochondrial encephalopathy. Acta Neuropathol. 2008 ,Dec 116(6):667-9. IF 3,179

  7. Kalbacova M, Spisakova M, Liskova J, Melkova Z. Lytic infection with vaccinia virus activates caspases in a bcl-2-inhibitable manner. Virus Research 135: 53-63,2008 IF 2,810

  8. Pohludka M, Simeckova K, Vohanka J, Yilma P, Novak P, Krause MW, Kostrouchova M, Kostrouch Z. Proteomic analysis uncovers a metabolic phenotype in C. elegans after nhr-40 reduction of function. Biochem Biophys Res Commun. 2008 2008 Sep 12;374(1):49-54. IF 2,749

  9. Pompe Disease Diagnostic Working Group, Winchester B, Bali D, Bodamer OA, Caillaud C, Christensen E, Cooper A, Cupler E, Deschauer M, FumiC K, Jackson M, Kishnani P, Lacerda L, Ledvinova J, Lugowska A, Lukacs Z, Maire I, Mandel H, Mengel E, Miiller-Felber W, Piraud M, Reuser A, Rupar T, Sinigerska I, Szlago M, Verheijen F, van Diggelen OP, Wuyts B, Zakharova E, Keutzer J. Methods for a prompt and reliable laboratory diagnosis of Pompe disease: report from an international consensus meeting. Mol Genet Metab. 2008 Mar;93(3):275-81. Epub 2007 Dec 19. IF 2,550

  10. Jurecka A, Zikanova M, Tylki-Szymanska A, Krijt J, Bogdanska A, Gradowska W, Mullerova K, Sykut-Cegielska J, Kmoch S, Pronicka E. Clinical, biochemical and molecular findings in seven Polish patients with adenylosuccinate lyase deficiency. Mol Genet Metab. 2008 Aug;94(4):435-42 IF 2,550

  11. Palecek T, Dostalova G, Kuchynka P, Karetova D, Bultas J, Elleder M, Linhart A. Right ventricular involvement in Fabry disease. J Am Soc Echocardiogr 2008;21(11): 1265-1268. IF 2,062

  12. Keslova-Veselikova J, Hdlkova H, Dobrovolny R, Asfaw B, Poupetova H, Berna L, Sikora J, Golhfi L, Ledvinova J, Elleder M. Replacement of a-galactosidase A in Fabry disease: Effect on fibroblast cultures compared with biopsied tissues of treated patients. Virchows Archiv 2008; 452: 65 1-665 IF 2,029

  13. Vyletlal P, Hůlkova H, Zivna M, Berna L, Novák P, Elleder M, Kmoch S. Abnormal expression and processing of uromodulin in Fabry disease reflects tubular cell storage alteration and is reversible by enzyme replacement therapy. J Inherit Metab Dis. 2008 Aug;3 1(4):508-17. Epub 2008 Jul27. IF 1,668

  14. Vesela Katerina, Hůlkova Helena, Hansikova Hana, Zeman Jiri, and Elleder Milan. Structural Analysis of Tissues Affected by Cytochrome C Oxidase Deficiency Due to Mutations in the SC02 Gene. APMIS. 2008 Jan; 1 16(1):4 1-9. IF 1,421

  15. Kalbacova M, Michalikova L, Baresova V, Kromka A, Rezek B, Kmoch S. Adhesion of osteoblasts on chemically patterned nanocrystalline diamond. Physica Status Solidi B 245(10): 2 124-2 127,2008 IF 1,071

  16. Sebesta I, Stiburkova B, Dvorakova L, Hrebicek M, Minks J, Stolnaja L, Vernerova Z, Rychlik I. Unusual presentation of Kelley-Seegmiller syndrome. Nucleosides Nucleotides Nucleic Acids. 2008 Jun;27(6):648-55 IF 0,723

  17. Radek Matěj, Lenka Dvořáková, Lenka Mrazova, Hana Houšťková, Milan Elleder. Early onset Alexander disease: a case report with evidence for manifestation of the disoder in neurohypophyseal pituicytes. Clinical Neuropathology, 2008;27(2):64-7 1 IF 0,720

  18. Kalbacova M, Macak JM, Schmidt-Stein F, Mierke CT, Fabry B, Schmuki P. TiOz nanotubes: Photocatalyst for cancer cell killing. Physica Status Solidi (RRL) 2: 194- 196,2008