Search Results - "Hansikova, H"

Mitophagy in Huntington's disease by Šonský, I., Vodička, P., Vodičková Kepková, K., Hansíková, H.

“…Huntington's disease (HD), as well as Parkinson's disease and Alzheimer's disease, belong to a group of neurodegenerative diseases characterized by common…”
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Novel variants in the NARS2 gene as a cause of infantile-onset severe epilepsy leading to fatal refractory status epilepticus: case study and literature review by Štěrbová, K., Vlčková, M., Hansíková, H., Sebroňová, V., Sedláčková, L., Pavlíček, P., Laššuthová, Petra

“…Biallelic variants in the NARS2 gene are the cause of a continuous spectrum of neurodegenerative disorders presenting with various severity-from spastic…”
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A new role for dolichol isoform profile in the diagnostics of CDG disorders by Zdrazilova, L., Kuchar, L., Ondruskova, N., Honzik, T., Hansikova, H.

“…•NUS1-CDG can be detected by analysis of dolichol isoforms.•Ratio of dolichol isoforms changes during ageing.•New diagnostic method for CDG patients via tandem…”
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Metabolic adaptation of human skin fibroblasts to ER stress caused by glycosylation defect in PMM2-CDG by Zdrazilova, L., Rakosnikova, T., Himmelreich, N., Ondruskova, N., Pasak, M., Vanisova, M., Volfova, N., Honzik, T., Thiel, C., Hansikova, H.

“…PMM2-CDG is the most prevalent type of congenital disorders of glycosylation (CDG). It is caused by pathogenic variants in the gene encoding phosphomannomutase…”
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The phenotypic spectrum of fifty Czech m.3243A>G carriers by Dvorakova, V., Kolarova, H., Magner, M., Tesarova, M., Hansikova, H., Zeman, J., Honzik, T.

“…Mitochondrial myopathy, Encephalopathy, Lactic Acidosis and Stroke-like episodes syndrome (MELAS) is a common mitochondrial disorder with varying multisystemic…”
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In response to: Fatal status epilepticus—the broad phenotypic heterogeneity of NARS2 variants. Author: Prof. Josef Finsterer: Regarding our manuscript: Novel variants in the NARS2 gene as a cause of infantile onset severe epilepsy leading to fatal refractory status epilepticus: case study and literature review by Štěrbová, K., Vlčková, M., Hansíková, H., Sebroňová, V., Sedláčková, L., Pavlíček, P., Laššuthová, P.

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Stable COX17 Downregulation Leads to Alterations in Mitochondrial Ultrastructure, Decreased Copper Content and Impaired Cytochrome c Oxidase Biogenesis in HEK293 Cells by Vanišová, M, Burská, D, Křížová, J, Daňhelovská, T, Dosoudilová, Ž, Zeman, J, Stibůrek, L, Hansíková, H

“…Cox17 is an assembly factor that participates in early cytochrome c oxidase (COX, CcO) assembly stages. Cox17 shuttles copper ions from the cytosol to the…”
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Review of SRD5A3 Disease-Causing Sequence Variants and Ocular Findings in Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation, and a Detailed New Case by Kousal, B, Honzík, T, Hansíková, H, Ondrušková, N, Čechová, A, Tesařová, M, Stránecký, V, Meliška, M, Michaelides, M, Lišková, P

“…Steroid 5α-reductase type 3 congenital disorder of glycosylation (SRD5A3-CDG) is a severe metabolic disease manifesting as muscle hypotonia, developmental…”
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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 by Urbanová, M, Mráz, M, Ďurovcová, V, Trachta, P, Kloučková, J, Kaválková, P, Haluzíková, D, Lacinová, Z, Hansíková, H, Wenchich, L, Kršek, M, Haluzík, M

“…Mitochondrial dysfunction is a potentially important player in the development of insulin resistance and type 2 diabetes mellitus (T2DM). We investigated the…”
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Mitochondrial DNA content and expression of genes involved in mtDNA transcription, regulation and maintenance during human fetal development by Pejznochova, M, Tesarova, M, Hansikova, H, Magner, M, Honzik, T, Vinsova, K, Hajkova, Z, Havlickova, V, Zeman, J

“…The mitochondrial biogenesis and adequate energy production are important for fetal growth and early postnatal adaptation. The aim of the study was to…”
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Changes in Transcription Pattern Lead to a Marked Decrease in COX, CS and SQR Activity After the Developmental Point of the 22nd Gestational Week by KOLAROVA, H., KRIZOVA, J., HULKOVA, M., HANSIKOVA, H., HULKOVA, H., SMID, V., ZEMAN, J., HONZIK, T., TESAROVA, M.

“…Tissue differentiation and proliferation throughout fetal development interconnect with changes in the oxidative phosphorylation system (OXPHOS) on the…”
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Molecular Diagnostics of Copper-Transporting Protein Mutations Allows Early Onset Individual Therapy of Menkes Disease by Králík, L, Flachsová, E, Hansíková, H, Saudek, V, Zeman, J, Martásek, P

“…Menkes disease is a severe X-linked recessive disorder caused by a defect in the ATP7A gene, which encodes a membrane copper-transporting ATPase. Deficient…”
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Buccal Respiratory Chain Complexes I and IV Quantities in Huntington's Disease Patients by Dušek, P, Rodinová, M, Lišková, I, Klempíř, J, Zeman, J, Roth, J, Hansíková, H

“…Alterations in mitochondrial parameters are an important hallmark of Huntington's disease (HD). The ubiquitous expression of mutant huntingtin raises the…”
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B33 Non-neural Mitochondrial Impairment In Huntington’s Disease Patients And Minipigs Transgenic For The N-terminal Part Of Human Mutated Huntingtin by Hansíková, H, Rodinová, M, Spáčilová, J, Kratochvílová, H, Sládková, J, Marková, M, Mačáková, M, Bohuslavová, B, Ellederová, Z, Juhasová, J, Lišková, I, Klempir, J, Roth, J, Motlik, J, Zeman, J

“…The most pathological effects of Huntington’s disease (HD) are focused on the central nervous system but numerous reports had described abnormalities in…”
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Analysis of Mitochondrial Network Morphology in Cultured Myoblasts from Patients with Mitochondrial Disorders by Sládková, J., Spáčilová, J., Čapek, M., Tesařová, M., Hansíková, H., Honzík, T., Martínek, J., Zámečník, J., Kostková, O., Zeman, J.

“…Mitochondrial morphology was studied in cultivated myoblasts obtained from patients with mitochondrial disorders, including CPEO, MELAS and TMEM70 deficiency…”
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Deficiency of mitochondrial ATP synthase of nuclear genetic origin by Sperl, W., Ješina, P., Zeman, J., Mayr, J.A., DeMeirleir, L., VanCoster, R., Pícková, A., Hansíková, H., Houšt’ková, H., Krejčík, Z., Koch, J., Smet, J., Muss, W., Holme, E., Houštěk, J.

“…We present clinical and laboratory data from 14 cases with an isolated deficiency of the mitochondrial ATP synthase (7–30% of control) caused by nuclear…”
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Genetic defects of cytochrome c oxidase assembly by Pecina, P, Houstková, H, Hansíková, H, Zeman, J, Houstek, J

“…Cytochrome c oxidase (COX), the terminal enzyme of the mitochondrial respiratory chain, is one of the key functional and regulatory sites of the mammalian…”
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Non-invasive screening of cytochrome c oxidase deficiency in children using a dipstick immunocapture assay by Rodinová, M, Trefilová, E, Honzík, T, Tesařová, M, Zeman, J, Hansíková, H

“…Cytochrome c oxidase (CIV) deficiency is among the most common childhood mitochondrial disorders. The diagnosis of this deficiency is complex, and muscle…”
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Activities of respiratory chain complexes and pyruvate dehydrogenase in isolated muscle mitochondria in premature neonates by Honzik, T, Wenchich, L, Böhm, M, Hansikova, H, Pejznochova, M, Zapadlo, M, Plavka, R, Zeman, J

“…Abstract Background and aims: Most diseases in premature neonates are secondary to immaturity of various organ systems. Also the inadequate capacity of…”
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Biogenesis of eukaryotic cytochrome c oxidase by Stiburek, L, Hansikova, H, Tesarova, M, Cerna, L, Zeman, J

“…Eukaryotic cytochrome c oxidase (CcO), the terminal component of the mitochondrial electron transport chain is a heterooligomeric complex that belongs to the…”
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