Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 50 of 112

1.

Activities of mitochondrial respiratory chain complexes in platelets of patients with Alzheimer's disease and depressive disorder.

Fišar Z, Hansíková H, Křížová J, Jirák R, Kitzlerová E, Zvěřová M, Hroudová J, Wenchich L, Zeman J, Raboch J.

Mitochondrion. 2019 Aug 1. pii: S1567-7249(18)30110-7. doi: 10.1016/j.mito.2019.07.013. [Epub ahead of print]

PMID:
31377247
2.

Deterioration of mitochondrial bioenergetics and ultrastructure impairment in skeletal muscle of a transgenic minipig model in the early stages of Huntington's disease.

Rodinova M, Krizova J, Stufkova H, Bohuslavova B, Askeland G, Dosoudilova Z, Juhas S, Juhasova J, Ellederova Z, Zeman J, Eide L, Motlik J, Hansikova H.

Dis Model Mech. 2019 Jul 26;12(7). pii: dmm038737. doi: 10.1242/dmm.038737.

3.

Disturbances of mitochondrial parameters to distinguish patients with depressive episode of bipolar disorder and major depressive disorder.

Zvěřová M, Hroudová J, Fišar Z, Hansíková H, Kališová L, Kitzlerová E, Lambertová A, Raboch J.

Neuropsychiatr Dis Treat. 2019 Jan 14;15:233-240. doi: 10.2147/NDT.S188964. eCollection 2019.

4.

Sideroblastic anemia associated with multisystem mitochondrial disorders.

Tesarova M, Vondrackova A, Stufkova H, Veprekova L, Stranecky V, Berankova K, Hansikova H, Magner M, Galoova N, Honzik T, Vodickova E, Stary J, Zeman J.

Pediatr Blood Cancer. 2019 Apr;66(4):e27591. doi: 10.1002/pbc.27591. Epub 2018 Dec 26.

PMID:
30588737
5.

Mitochondrial Dysfunction in Blood Platelets of Patients with Manic Episode of Bipolar Disorder.

Hroudová J, Fišar Z, Hansíková H, Kališová L, Kitzlerová E, Zvěřová M, Lambertová A, Raboch J.

CNS Neurol Disord Drug Targets. 2019;18(3):222-231. doi: 10.2174/1871527318666181224130011.

PMID:
30582486
6.

Loss of Mitochondrial AAA Proteases AFG3L2 and YME1L Impairs Mitochondrial Structure and Respiratory Chain Biogenesis.

Cesnekova J, Rodinova M, Hansikova H, Zeman J, Stiburek L.

Int J Mol Sci. 2018 Dec 7;19(12). pii: E3930. doi: 10.3390/ijms19123930.

7.

Postnatal induction of muscle fatty acid oxidation in mice differing in propensity to obesity: a role of pyruvate dehydrogenase.

Buresova J, Janovska P, Kuda O, Krizova J, der Stelt IR, Keijer J, Hansikova H, Rossmeisl M, Kopecky J.

Int J Obes (Lond). 2018 Dec 11. doi: 10.1038/s41366-018-0281-0. [Epub ahead of print]

PMID:
30538280
8.

A transgenic minipig model of Huntington's disease shows early signs of behavioral and molecular pathologies.

Askeland G, Rodinova M, Štufková H, Dosoudilova Z, Baxa M, Smatlikova P, Bohuslavova B, Klempir J, Nguyen TD, Kuśnierczyk A, Bjørås M, Klungland A, Hansikova H, Ellederova Z, Eide L.

Dis Model Mech. 2018 Oct 24;11(10). pii: dmm035949. doi: 10.1242/dmm.035949.

9.

Intact transferrin and total plasma glycoprofiling for diagnosis and therapy monitoring in phosphoglucomutase-I deficiency.

Abu Bakar N, Voermans NC, Marquardt T, Thiel C, Janssen MCH, Hansikova H, Crushell E, Sykut-Cegielska J, Bowling F, MØrkrid L, Vissing J, Morava E, van Scherpenzeel M, Lefeber DJ.

Transl Res. 2018 Sep;199:62-76. doi: 10.1016/j.trsl.2018.04.008. Epub 2018 May 10.

10.

Increased nuclear DNA damage precedes mitochondrial dysfunction in peripheral blood mononuclear cells from Huntington's disease patients.

Askeland G, Dosoudilova Z, Rodinova M, Klempir J, Liskova I, Kuśnierczyk A, Bjørås M, Nesse G, Klungland A, Hansikova H, Eide L.

Sci Rep. 2018 Jun 29;8(1):9817. doi: 10.1038/s41598-018-27985-y.

11.

N-Glycosylation Regulates the Trafficking and Surface Mobility of GluN3A-Containing NMDA Receptors.

Skrenkova K, Lee S, Lichnerova K, Kaniakova M, Hansikova H, Zapotocky M, Suh YH, Horak M.

Front Mol Neurosci. 2018 Jun 4;11:188. doi: 10.3389/fnmol.2018.00188. eCollection 2018.

12.

Integrating glycomics and genomics uncovers SLC10A7 as essential factor for bone mineralization by regulating post-Golgi protein transport and glycosylation.

Ashikov A, Abu Bakar N, Wen XY, Niemeijer M, Rodrigues Pinto Osorio G, Brand-Arzamendi K, Hasadsri L, Hansikova H, Raymond K, Vicogne D, Ondruskova N, Simon MEH, Pfundt R, Timal S, Beumers R, Biot C, Smeets R, Kersten M, Huijben K; CDG group, Linders PTA, van den Bogaart G, van Hijum SAFT, Rodenburg R, van den Heuvel LP, van Spronsen F, Honzik T, Foulquier F, van Scherpenzeel M, Lefeber DJ; CDG group, Mirjam W, Han B, Helen M, Helen M, Peter VH, Jiddeke VK, Diego M, Lars M, Katja BH, Jozef H, Majid A, Kevin C, Johann TWN.

Hum Mol Genet. 2018 Sep 1;27(17):3029-3045. doi: 10.1093/hmg/ddy213.

PMID:
29878199
13.

Buccal Respiratory Chain Complexes I and IV Quantities in Huntington's Disease Patients.

Dušek P, Rodinová M, Lišková I, Klempíř J, Zeman J, Roth J, Hansíková H.

Folia Biol (Praha). 2018;64(1):31-34.

14.

Aberrant apolipoprotein C-III glycosylation in glycogen storage disease type III and IX.

Ondruskova N, Honzik T, Kolarova H, Pakanova Z, Mucha J, Zeman J, Hansikova H.

Metabolism. 2018 May;82:135-141. doi: 10.1016/j.metabol.2018.01.004. Epub 2018 Feb 2. No abstract available.

PMID:
29408683
15.

Changes in transcription pattern lead to a marked decrease in COX, CS and SQR activity after the developmental point of the 22(nd) gestational week.

Kolarova H, Krizova J, Hulkova M, Hansikova H, Hulkova H, Smid V, Zeman J, Honzik T, Tesarova M.

Physiol Res. 2018 Mar 16;67(1):79-91. Epub 2017 Nov 10.

16.

Hereditary Multiple Exostoses: Clinical, Molecular and Radiologic Survey in 9 Families.

Medek K, Zeman J, Honzík T, Hansíková H, Švecová Š, Beránková K, Kučerová Vidrová V, Kuklík M, Chomiak J, Tesařová M.

Prague Med Rep. 2017;118(2-3):87-94. doi: 10.14712/23362936.2017.8.

17.

The effect of very-low-calorie diet on mitochondrial dysfunction in subcutaneous adipose tissue and peripheral monocytes of obese subjects with type 2 diabetes mellitus.

Urbanová M, Mráz M, Ďurovcová V, Trachta P, Kloučková J, Kaválková P, Haluzíková D, Lacinová Z, Hansíková H, Wenchich L, Kršek M, Haluzík M.

Physiol Res. 2017 Nov 24;66(5):811-822. Epub 2017 Jul 18.

18.

Mitochondrial Metabolism in a Large-Animal Model of Huntington Disease: The Hunt for Biomarkers in the Spermatozoa of Presymptomatic Minipigs.

Krizova J, Stufkova H, Rodinova M, Macakova M, Bohuslavova B, Vidinska D, Klima J, Ellederova Z, Pavlok A, Howland DS, Zeman J, Motlik J, Hansikova H.

Neurodegener Dis. 2017;17(4-5):213-226. doi: 10.1159/000475467. Epub 2017 Jun 21.

PMID:
28633139
19.

Oral D-galactose supplementation in PGM1-CDG.

Wong SY, Gadomski T, van Scherpenzeel M, Honzik T, Hansikova H, Holmefjord KSB, Mork M, Bowling F, Sykut-Cegielska J, Koch D, Hertecant J, Preston G, Jaeken J, Peeters N, Perez S, Nguyen DD, Crivelly K, Emmerzaal T, Gibson KM, Raymond K, Abu Bakar N, Foulquier F, Poschet G, Ackermann AM, He M, Lefeber DJ, Thiel C, Kozicz T, Morava E.

Genet Med. 2017 Nov;19(11):1226-1235. doi: 10.1038/gim.2017.41. Epub 2017 Jun 15.

20.

Molecular Diagnostics of Copper-Transporting Protein Mutations Allows Early Onset Individual Therapy of Menkes Disease.

Králík L, Flachsová E, Hansíková H, Saudek V, Zeman J, Martásek P.

Folia Biol (Praha). 2017;63(5-6):165-173.

21.

Thymidine kinase 2 and alanyl-tRNA synthetase 2 deficiencies cause lethal mitochondrial cardiomyopathy: case reports and review of the literature.

Mazurova S, Magner M, Kucerova-Vidrova V, Vondrackova A, Stranecky V, Pristoupilova A, Zamecnik J, Hansikova H, Zeman J, Tesarova M, Honzik T.

Cardiol Young. 2017 Jul;27(5):936-944. doi: 10.1017/S1047951116001876. Epub 2016 Nov 14. Review.

PMID:
27839525
22.

Unique presentation of LHON/MELAS overlap syndrome caused by m.13046T>C in MTND5.

Kolarova H, Liskova P, Tesarova M, Kucerova Vidrova V, Forgac M, Zamecnik J, Hansikova H, Honzik T.

Ophthalmic Genet. 2016 Dec;37(4):419-423. Epub 2016 Feb 19.

PMID:
26894521
23.

LACE1 interacts with p53 and mediates its mitochondrial translocation and apoptosis.

Cesnekova J, Spacilova J, Hansikova H, Houstek J, Zeman J, Stiburek L.

Oncotarget. 2016 Jul 26;7(30):47687-47698. doi: 10.18632/oncotarget.9959.

24.

The phenotypic spectrum of fifty Czech m.3243A>G carriers.

Dvorakova V, Kolarova H, Magner M, Tesarova M, Hansikova H, Zeman J, Honzik T.

Mol Genet Metab. 2016 Aug;118(4):288-95. doi: 10.1016/j.ymgme.2016.06.003. Epub 2016 Jun 6.

PMID:
27296531
25.

Analysis of expression profiles of genes involved in F(o)F(1)-ATP synthase biogenesis during perinatal development in rat liver and skeletal muscle.

Spáčilová J, Hůlková M, Hruštincová A, Čapek V, Tesařová M, Hansíková H, Zeman J.

Physiol Res. 2016 Nov 8;65(4):597-608. Epub 2016 Mar 15.

26.

Mitochondrial Respiration in the Platelets of Patients with Alzheimer's Disease.

Fišar Z, Hroudová J, Hansíková H, Spáčilová J, Lelková P, Wenchich L, Jirák R, Zvěřová M, Zeman J, Martásek P, Raboch J.

Curr Alzheimer Res. 2016;13(8):930-41.

PMID:
26971932
27.

Mutated Huntingtin Causes Testicular Pathology in Transgenic Minipig Boars.

Macakova M, Bohuslavova B, Vochozkova P, Pavlok A, Sedlackova M, Vidinska D, Vochyanova K, Liskova I, Valekova I, Baxa M, Ellederova Z, Klima J, Juhas S, Juhasova J, Klouckova J, Haluzik M, Klempir J, Hansikova H, Spacilova J, Collins R, Blumenthal I, Talkowski M, Gusella JF, Howland DS, DiFiglia M, Motlik J.

Neurodegener Dis. 2016;16(3-4):245-59. doi: 10.1159/000443665. Epub 2016 Mar 10.

PMID:
26959244
28.

[Mitochondrial metabolism in mammalian spermatozoa--a minireview].

Spácilová J, Sládková J, Macáková M, Hansíková H.

Cesk Fysiol. 2015;64(2):84-9. Review. Czech.

PMID:
26852526
29.

The mammalian homologue of yeast Afg1 ATPase (lactation elevated 1) mediates degradation of nuclear-encoded complex IV subunits.

Cesnekova J, Rodinova M, Hansikova H, Houstek J, Zeman J, Stiburek L.

Biochem J. 2016 Mar 15;473(6):797-804. doi: 10.1042/BJ20151029. Epub 2016 Jan 12.

PMID:
26759378
30.

Noninvasive diagnostics of mitochondrial disorders in isolated lymphocytes with high resolution respirometry.

Pecina P, Houšťková H, Mráček T, Pecinová A, Nůsková H, Tesařová M, Hansíková H, Janota J, Zeman J, Houštěk J.

BBA Clin. 2014 Oct 1;2:62-71. doi: 10.1016/j.bbacli.2014.09.003. eCollection 2014 Dec.

31.

Analysis of Mitochondrial Network Morphology in Cultured Myoblasts from Patients with Mitochondrial Disorders.

Sládková J, Spáčilová J, Čapek M, Tesařová M, Hansíková H, Honzík T, Martínek J, Zámečník J, Kostková O, Zeman J.

Ultrastruct Pathol. 2015;39(5):340-50. doi: 10.3109/01913123.2015.1054013. Epub 2015 Jul 27.

PMID:
26214044
32.

Isoelectric Focusing of Serum Apolipoprotein C-III as a Sensitive Screening Method for the Detection of O-glycosylation Disturbances.

Ondrušková N, Honzík T, Kytnarová J, Matoulek M, Zeman J, Hansíková H.

Prague Med Rep. 2015;116(2):73-86. doi: 10.14712/23362936.2015.48.

33.

Erratum to: TMEM70 deficiency: long-term outcome of 48 patients.

Magner M, Dvorakova V, Tesarova M, Mazurova S, Hansikova H, Zahorec M, Brennerova K, Bzduch V, Spiegel R, Horovitz Y, Mandel H, Eminoğlu FT, Mayr JA, Koch J, Martinelli D, Bertini E, Konstantopoulou V, Smet J, Rahman S, Broomfield A, Stojanović V, Dionisi-Vici C, van Coster R, Morava E, Sperl W, Zeman J, Honzik T.

J Inherit Metab Dis. 2015 May;38(3):583-4. doi: 10.1007/s10545-015-9833-9. No abstract available.

PMID:
25778942
34.

Carnitine supplementation alleviates lipid metabolism derangements and protects against oxidative stress in non-obese hereditary hypertriglyceridemic rats.

Cahova M, Chrastina P, Hansikova H, Drahota Z, Trnovska J, Skop V, Spacilova J, Malinska H, Oliyarnyk O, Papackova Z, Palenickova E, Kazdova L.

Appl Physiol Nutr Metab. 2015 Mar;40(3):280-91. doi: 10.1139/apnm-2014-0163.

PMID:
25723909
35.

[Psychiatric disturbances in five patients with MELAS syndrome].

Magner M, Honzik T, Tesarova M, Dvorakova V, Hansiková H, Raboch J, Zeman J.

Psychiatr Pol. 2014 Sep-Oct;48(5):1035-45. Polish.

PMID:
25639022
36.

Non-invasive screening of cytochrome c oxidase deficiency in children using a dipstick immunocapture assay.

Rodinová M, Trefilová E, Honzík T, Tesařová M, Zeman J, Hansíková H.

Folia Biol (Praha). 2014;60(6):268-74.

37.

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.

Brain. 2015 Feb;138(Pt 2):336-55. doi: 10.1093/brain/awu355. Epub 2015 Jan 6. Erratum in: Brain. 2015 Jul;138(Pt 7):e366.

38.

TMEM70 deficiency: long-term outcome of 48 patients.

Magner M, Dvorakova V, Tesarova M, Mazurova S, Hansikova H, Zahorec M, Brennerova K, Bzduch V, Spiegel R, Horovitz Y, Mandel H, Eminoğlu FT, Mayr JA, Koch J, Martinelli D, Bertini E, Konstantopoulou V, Smet J, Rahman S, Broomfield A, Stojanović V, Dionisi-Vici C, van Coster R, Morava E, Sperl W, Zeman J, Honzik T.

J Inherit Metab Dis. 2015 May;38(3):417-26. doi: 10.1007/s10545-014-9774-8. Epub 2014 Oct 18. Erratum in: J Inherit Metab Dis. 2015 May;38(3):583-4. Morava-Kozicz, Eva [corrected to Morava, Eva].

PMID:
25326274
39.

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.

Cell Metab. 2014 Sep 2;20(3):448-57. doi: 10.1016/j.cmet.2014.06.016. Epub 2014 Jul 24.

40.

Glycogen storage disease-like phenotype with central nervous system involvement in a PGM1-CDG patient.

Ondruskova N, Honzik T, Vondrackova A, Tesarova M, Zeman J, Hansikova H.

Neuro Endocrinol Lett. 2014;35(2):137-41.

PMID:
24878975
41.

Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency.

Van Scherpenzeel M, Timal S, Rymen D, Hoischen A, Wuhrer M, Hipgrave-Ederveen A, Grunewald S, Peanne R, Saada A, Edvardson S, Grønborg S, Ruijter G, Kattentidt-Mouravieva A, Brum JM, Freckmann ML, Tomkins S, Jalan A, Prochazkova D, Ondruskova N, Hansikova H, Willemsen MA, Hensbergen PJ, Matthijs G, Wevers RA, Veltman JA, Morava E, Lefeber DJ.

Brain. 2014 Apr;137(Pt 4):1030-8. doi: 10.1093/brain/awu019. Epub 2014 Feb 24.

PMID:
24566669
42.

Novel mutations in the TAZ gene in patients with Barth syndrome.

Mazurová S, Tesařová M, Magner M, Houšťková H, Hansíková H, Augustínová J, Tomek V, Vondráčková A, Zeman J, Honzík T.

Prague Med Rep. 2013;114(3):139-53.

PMID:
24093814
43.

Large copy number variations in combination with point mutations in the TYMP and SCO2 genes found in two patients with mitochondrial disorders.

Vondráčková A, Veselá K, Kratochvílová H, Kučerová Vidrová V, Vinšová K, Stránecký V, Honzík T, Hansíková H, Zeman J, Tesařová M.

Eur J Hum Genet. 2014 Mar;22(3):431-4. doi: 10.1038/ejhg.2013.148. Epub 2013 Jul 10.

44.

Novel OPA1 missense mutation in a family with optic atrophy and severe widespread neurological disorder.

Liskova P, Ulmanova O, Tesina P, Melsova H, Diblik P, Hansikova H, Tesarova M, Votruba M.

Acta Ophthalmol. 2013 May;91(3):e225-31. doi: 10.1111/aos.12038. Epub 2013 Feb 7.

45.

A transgenic minipig model of Huntington's Disease.

Baxa M, Hruska-Plochan M, Juhas S, Vodicka P, Pavlok A, Juhasova J, Miyanohara A, Nejime T, Klima J, Macakova M, Marsala S, Weiss A, Kubickova S, Musilova P, Vrtel R, Sontag EM, Thompson LM, Schier J, Hansikova H, Howland DS, Cattaneo E, DiFiglia M, Marsala M, Motlik J.

J Huntingtons Dis. 2013;2(1):47-68. doi: 10.3233/JHD-130001.

PMID:
25063429
46.

Hypertrophic cardiomyopathy due to the mitochondrial DNA mutation m.3303C>T diagnosed in an adult male.

Palecek T, Tesarova M, Kuchynka P, Dytrych V, Elleder M, Hulkova H, Hansikova H, Honzik T, Zeman J, Linhart A.

Int Heart J. 2012;53(6):383-7.

47.

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
48.

RFT1-CDG in adult siblings with novel mutations.

Ondruskova N, Vesela K, Hansikova H, Magner M, Zeman J, Honzik T.

Mol Genet Metab. 2012 Dec;107(4):760-2. doi: 10.1016/j.ymgme.2012.10.002. Epub 2012 Oct 13.

PMID:
23111317
49.

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
50.

Warburg effect's manifestation in aggressive pheochromocytomas and paragangliomas: insights from a mouse cell model applied to human tumor tissue.

Fliedner SM, Kaludercic N, Jiang XS, Hansikova H, Hajkova Z, Sladkova J, Limpuangthip A, Backlund PS, Wesley R, Martiniova L, Jochmanova I, Lendvai NK, Breza J, Yergey AL, Paolocci N, Tischler AS, Zeman J, Porter FD, Lehnert H, Pacak K.

PLoS One. 2012;7(7):e40949. doi: 10.1371/journal.pone.0040949. Epub 2012 Jul 31.

Supplemental Content

Loading ...
Support Center