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Items: 34

1.

The impact of dysfunctional variants of ABCG2 on hyperuricemia and gout in pediatric-onset patients.

Stiburkova B, Pavelcova K, Pavlikova M, Ješina P, Pavelka K.

Arthritis Res Ther. 2019 Mar 20;21(1):77. doi: 10.1186/s13075-019-1860-8.

2.

Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry.

Huemer M, Diodato D, Martinelli D, Olivieri G, Blom H, Gleich F, Kölker S, Kožich V, Morris AA, Seifert B, Froese DS, Baumgartner MR, Dionisi-Vici C; EHOD consortium, Martin CA, Baethmann M, Ballhausen D, Blasco-Alonso J, Boy N, Bueno M, Burgos Peláez R, Cerone R, Chabrol B, Chapman KA, Couce ML, Crushell E, Dalmau Serra J, Diogo L, Ficicioglu C, García Jimenez MC, García Silva MT, Gaspar AM, Gautschi M, González-Lamuño D, Gouveia S, Grünewald S, Hendriksz C, Janssen MCH, Jesina P, Koch J, Konstantopoulou V, Lavigne C, Lund AM, Martins EG, Meavilla Olivas S, Mention K, Mochel F, Mundy H, Murphy E, Paquay S, Pedrón-Giner C, Ruiz Gómez MA, Santra S, Schiff M, Schwartz IV, Scholl-Bürgi S, Servais A, Skouma A, Tran C, Vives Piñera I, Walter J, Weisfeld-Adams J.

J Inherit Metab Dis. 2019 Mar;42(2):333-352. doi: 10.1002/jimd.12041. Epub 2019 Feb 17.

PMID:
30773687
3.

Metabolism of sulfur compounds in homocystinurias.

Kožich V, Ditrói T, Sokolová J, Křížková M, Krijt J, Ješina P, Nagy P.

Br J Pharmacol. 2019 Feb;176(4):594-606. doi: 10.1111/bph.14523. Epub 2018 Nov 25.

PMID:
30341787
4.

Effect of Resveratrol on Oxidative Stress and Mitochondrial Dysfunction in Immature Brain during Epileptogenesis.

Folbergrová J, Ješina P, Kubová H, Otáhal J.

Mol Neurobiol. 2018 Sep;55(9):7512-7522. doi: 10.1007/s12035-018-0924-0. Epub 2018 Feb 9.

PMID:
29427088
5.

Dietary patterns, cost and compliance with low-protein diet of phenylketonuria and other inherited metabolic diseases.

Mlčoch T, Puda R, Ješina P, Lhotáková M, Štěrbová Š, Doležal T.

Eur J Clin Nutr. 2018 Jan;72(1):87-92. doi: 10.1038/ejcn.2017.102. Epub 2017 Jun 28.

PMID:
28656971
6.

Activity of the liver enzyme ornithine carbamoyltransferase (OTC) in blood: LC-MS/MS assay for non-invasive diagnosis of ornithine carbamoyltransferase deficiency.

Krijt J, Sokolová J, Ješina P, Dvořáková L, Řeboun M, Brennerová K, Mistrík M, Zeman J, Honzík T, Kožich V.

Clin Chem Lab Med. 2017 Jul 26;55(8):1168-1177. doi: 10.1515/cclm-2016-0715.

PMID:
28107167
7.

A Suspicion Index to aid screening of early-onset Niemann-Pick disease Type C (NP-C).

Pineda M, Mengel E, Jahnová H, Héron B, Imrie J, Lourenço CM, van der Linden V, Karimzadeh P, Valayannopoulos V, Jesina P, Torres JV, Kolb SA.

BMC Pediatr. 2016 Jul 22;16:107. doi: 10.1186/s12887-016-0641-7.

8.

Status Epilepticus in Immature Rats Is Associated with Oxidative Stress and Mitochondrial Dysfunction.

Folbergrová J, Ješina P, Kubová H, Druga R, Otáhal J.

Front Cell Neurosci. 2016 May 26;10:136. doi: 10.3389/fncel.2016.00136. eCollection 2016.

9.

Thioethers as markers of hydrogen sulfide production in homocystinurias.

Kožich V, Krijt J, Sokolová J, Melenovská P, Ješina P, Vozdek R, Majtán T, Kraus JP.

Biochimie. 2016 Jul;126:14-20. doi: 10.1016/j.biochi.2016.01.001. Epub 2016 Jan 11.

PMID:
26791043
10.

Alteration of structure and function of ATP synthase and cytochrome c oxidase by lack of Fo-a and Cox3 subunits caused by mitochondrial DNA 9205delTA mutation.

Hejzlarová K, Kaplanová V, Nůsková H, Kovářová N, Ješina P, Drahota Z, Mráček T, Seneca S, Houštěk J.

Biochem J. 2015 Mar 15;466(3):601-11. doi: 10.1042/BJ20141462.

PMID:
25588698
11.

Clinical onset and course, response to treatment and outcome in 24 patients with the cblE or cblG remethylation defect complemented by genetic and in vitro enzyme study data.

Huemer M, Bürer C, Ješina P, Kožich V, Landolt MA, Suormala T, Fowler B, Augoustides-Savvopoulou P, Blair E, Brennerova K, Broomfield A, De Meirleir L, Gökcay G, Hennermann J, Jardine P, Koch J, Lorenzl S, Lotz-Havla AS, Noss J, Parini R, Peters H, Plecko B, Ramos FJ, Schlune A, Tsiakas K, Zerjav Tansek M, Baumgartner MR.

J Inherit Metab Dis. 2015 Sep;38(5):957-67. doi: 10.1007/s10545-014-9803-7. Epub 2014 Dec 20.

PMID:
25526710
12.

Observational, retrospective study of a large cohort of patients with Niemann-Pick disease type C in the Czech Republic: a surprisingly stable diagnostic rate spanning almost 40 years.

Jahnova H, Dvorakova L, Vlaskova H, Hulkova H, Poupetova H, Hrebicek M, Jesina P.

Orphanet J Rare Dis. 2014 Sep 19;9:140. doi: 10.1186/s13023-014-0140-6.

13.

Enzymatic diagnosis of homocystinuria by determination of cystathionine-ß-synthase activity in plasma using LC-MS/MS.

Alcaide P, Krijt J, Ruiz-Sala P, Ješina P, Ugarte M, Kožich V, Merinero B.

Clin Chim Acta. 2015 Jan 1;438:261-5. doi: 10.1016/j.cca.2014.09.009. Epub 2014 Sep 16.

PMID:
25218699
14.

ROS generation and multiple forms of mammalian mitochondrial glycerol-3-phosphate dehydrogenase.

Mráček T, Holzerová E, Drahota Z, Kovářová N, Vrbacký M, Ješina P, Houštěk J.

Biochim Biophys Acta. 2014 Jan;1837(1):98-111. doi: 10.1016/j.bbabio.2013.08.007. Epub 2013 Aug 30.

15.

Antioxidant enzymes in cerebral cortex of immature rats following experimentally-induced seizures: upregulation of mitochondrial MnSOD (SOD2).

Folbergrová J, Ješina P, Nůsková H, Houštěk J.

Int J Dev Neurosci. 2013 Apr;31(2):123-30. doi: 10.1016/j.ijdevneu.2012.11.011. Epub 2012 Dec 10.

PMID:
23238024
16.

Different laboratory and muscle biopsy findings in a family with an m.8851T>C mutation in the mitochondrial MTATP6 gene.

Honzik T, Tesarova M, Vinsova K, Hansikova H, Magner M, Kratochvilova H, Zamecnik J, Zeman J, Jesina P.

Mol Genet Metab. 2013 Jan;108(1):102-5. doi: 10.1016/j.ymgme.2012.11.002. Epub 2012 Nov 13.

PMID:
23206802
17.

Clinical picture of S-adenosylhomocysteine hydrolase deficiency resembles phosphomannomutase 2 deficiency.

Honzík T, Magner M, Krijt J, Sokolová J, Vugrek O, Belužić R, Barić I, Hansíkova H, Elleder M, Veselá K, Bauerová L, Ondrušková N, Ješina P, Zeman J, Kožich V.

Mol Genet Metab. 2012 Nov;107(3):611-3. doi: 10.1016/j.ymgme.2012.08.014. Epub 2012 Aug 23.

PMID:
22959829
18.

Neonatal onset of mitochondrial disorders in 129 patients: clinical and laboratory characteristics and a new approach to diagnosis.

Honzik T, Tesarova M, Magner M, Mayr J, Jesina P, Vesela K, Wenchich L, Szentivanyi K, Hansikova H, Sperl W, Zeman J.

J Inherit Metab Dis. 2012 Sep;35(5):749-59. doi: 10.1007/s10545-011-9440-3. Epub 2012 Jan 10.

PMID:
22231385
19.

Two patients with clinically distinct manifestation of pyruvate dehydrogenase deficiency due to mutations in PDHA1 gene.

Magner M, Vinšová K, Tesařová M, Hájková Z, Hansíková H, Wenchich L, Ješina P, Smolka V, Adam T, Vaněčková M, Zeman J, Honzík T.

Prague Med Rep. 2011;112(1):18-28.

PMID:
21470495
20.

Elevated CSF-lactate is a reliable marker of mitochondrial disorders in children even after brief seizures.

Magner M, Szentiványi K, Svandová I, Ješina P, Tesařová M, Honzík T, Zeman J.

Eur J Paediatr Neurol. 2011 Mar;15(2):101-8. doi: 10.1016/j.ejpn.2010.10.001. Epub 2010 Nov 12.

PMID:
21075023
21.

Mitochondrial ATP synthase deficiency due to a mutation in the ATP5E gene for the F1 epsilon subunit.

Mayr JA, Havlícková V, Zimmermann F, Magler I, Kaplanová V, Jesina P, Pecinová A, Nusková H, Koch J, Sperl W, Houstek J.

Hum Mol Genet. 2010 Sep 1;19(17):3430-9. doi: 10.1093/hmg/ddq254. Epub 2010 Jun 21.

PMID:
20566710
22.

Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation.

Honzík T, Tesarová M, Mayr JA, Hansíková H, Jesina P, Bodamer O, Koch J, Magner M, Freisinger P, Huemer M, Kostková O, van Coster R, Kmoch S, Houstêk J, Sperl W, Zeman J.

Arch Dis Child. 2010 Apr;95(4):296-301. doi: 10.1136/adc.2009.168096.

PMID:
20335238
23.

Sustained deficiency of mitochondrial complex I activity during long periods of survival after seizures induced in immature rats by homocysteic acid.

Folbergrová J, Jesina P, Haugvicová R, Lisý V, Houstek J.

Neurochem Int. 2010 Feb;56(3):394-403. doi: 10.1016/j.neuint.2009.11.011. Epub 2009 Nov 18.

PMID:
19931336
24.

Respiratory chain components involved in the glycerophosphate dehydrogenase-dependent ROS production by brown adipose tissue mitochondria.

Vrbacký M, Drahota Z, Mrácek T, Vojtísková A, Jesina P, Stopka P, Houstek J.

Biochim Biophys Acta. 2007 Jul;1767(7):989-97. Epub 2007 May 13.

25.

Mitochondrial complex I inhibition in cerebral cortex of immature rats following homocysteic acid-induced seizures.

Folbergrová J, Jesina P, Drahota Z, Lisý V, Haugvicová R, Vojtísková A, Houstĕk J.

Exp Neurol. 2007 Apr;204(2):597-609. Epub 2006 Dec 19.

PMID:
17270175
26.

Deficiency of mitochondrial ATP synthase of nuclear genetic origin.

Sperl W, Jesina P, Zeman J, Mayr JA, Demeirleir L, VanCoster R, Pícková A, Hansíková H, Houst'ková H, Krejcík Z, Koch J, Smet J, Muss W, Holme E, Houstek J.

Neuromuscul Disord. 2006 Dec;16(12):821-9. Epub 2006 Oct 17.

PMID:
17052906
27.

Mitochondrial diseases and genetic defects of ATP synthase.

Houstek J, Pícková A, Vojtísková A, Mrácek T, Pecina P, Jesina P.

Biochim Biophys Acta. 2006 Sep-Oct;1757(9-10):1400-5. Epub 2006 Apr 19. Review.

28.

Time-course of hormonal induction of mitochondrial glycerophosphate dehydrogenase biogenesis in rat liver.

Mrácek T, Jesina P, Kriváková P, Bolehovská R, Cervinková Z, Drahota Z, Houstek J.

Biochim Biophys Acta. 2005 Nov 15;1726(2):217-23. Epub 2005 Jul 5.

PMID:
16039782
29.

Specific properties of heavy fraction of mitochondria from human-term placenta - glycerophosphate-dependent hydrogen peroxide production.

Honzík T, Drahota Z, Böhm M, Jesina P, Mrácek T, Paul J, Zeman J, Houstek J.

Placenta. 2006 Apr-May;27(4-5):348-56. Epub 2005 Jun 9.

PMID:
15949844
30.

Diminished synthesis of subunit a (ATP6) and altered function of ATP synthase and cytochrome c oxidase due to the mtDNA 2 bp microdeletion of TA at positions 9205 and 9206.

Jesina P, Tesarová M, Fornůsková D, Vojtísková A, Pecina P, Kaplanová V, Hansíková H, Zeman J, Houstek J.

Biochem J. 2004 Nov 1;383(Pt. 3):561-71.

31.

Glycerophosphate-dependent hydrogen peroxide production by rat liver mitochondria.

Jesina P, Kholová D, Bolehovská R, Cervinková Z, Drahota Z, Houstek J.

Physiol Res. 2004;53(3):305-10.

32.

Mitochondrial membrane potential and ATP production in primary disorders of ATP synthase.

Vojtísková A, Jesina P, Kalous M, Kaplanová V, Houstek J, Tesarová M, Fornůsková D, Zeman J, Dubot A, Godinot C.

Toxicol Mech Methods. 2004;14(1-2):7-11. doi: 10.1080/15376520490257347.

PMID:
20021115
33.

GUG is an efficient initiation codon to translate the human mitochondrial ATP6 gene.

Dubot A, Godinot C, Dumur V, Sablonnière B, Stojkovic T, Cuisset JM, Vojtiskova A, Pecina P, Jesina P, Houstek J.

Biochem Biophys Res Commun. 2004 Jan 16;313(3):687-93.

PMID:
14697245
34.

Glycerophosphate-dependent peroxide production by brown fat mitochondria from newborn rats.

Drahota Z, Rauchova H, Jesina P, Vojtísková A, Houstek J.

Gen Physiol Biophys. 2003 Mar;22(1):93-102.

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