Eliška Koňaříková

Cryopreserved PBMCs can be used for the analysis of mitochondrial respiration and serve as a diagnostic tool for mitochondrial diseases

Zuzana Korandová, Petr Pecina, Alena Pecinová, Eliška Koňaříková et autres

Mitochondrial diseases are severe, inherited metabolic disorders that affect the paediatric population. They affect the functioning of mitochondrial oxidative phosphorylation (OXPHOS) apparatus either directly or indirectly. Since mutations in mtDNA are responsible for only 25 % of paediatric cases and next-generation sequencing …

us, cz (code pays fourni par la source)

Oxygen consumption measurements of cryopreserved PBMCs as a new diagnostic tool for mitochondrial diseases

Zuzana Korandová, Eliška Koňaříková, Petr Pecina, Alena Pecinová et autres

cz (code pays fourni par la source)

Searching for function of TMEM70, TMEM242 and c15orf61 – recently identified interactors of subunit c from mammalian FoF1 ATP synthase

Aleksandra Pavlović Marković, Marek Vrbacký, Petr Pecina, Jan Eliáš et autres

cz (code pays fourni par la source)

Current progress in the therapeutic options for mitochondrial disorders.

Eliška Koňaříková, Zuzana Korandová, J Houštěk, Tomáš Mráček

Mitochondrial disorders manifest enormous genetic and clinical heterogeneity - they can appear at any age, present with various phenotypes affecting any organ, and display any mode of inheritance. What mitochondrial diseases do have in common, is impairment of respiratory chain activity, which …

cz, us (code pays fourni par la source)

MLQ is responsible for stabilisation of subunit a in the holoenzyme of mammalian ATP synthase

Kateřina Tauchmannová, D.M. Ho, Hana Nůsková, Alena Pecinová et autres

Abstract The biogenesis of mammalian ATP synthase is complex process believed to proceed via several modules. It starts with the formation of F1 catalytic part, which is in the later steps connected with the membranous subcomplex. The final phase is represented by …

cz (code pays fourni par la source)

OCR-Stats: Robust estimation and statistical testing of mitochondrial respiration activities using Seahorse XF Analyzer

Vicente A. Yépez, Laura S. Kremer, Arcangela Iuso, Mirjana Gušić et autres

The accurate quantification of cellular and mitochondrial bioenergetic activity is of great interest in medicine and biology. Mitochondrial stress tests performed with Seahorse Bioscience XF Analyzers allow the estimation of different bioenergetic measures by monitoring the oxygen consumption rates (OCR) of living …

de (code pays fourni par la source)

NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy

Dorota Piekutowska‐Abramczuk, Zahra Assouline, Lavinija Mataković, René G. Feichtinger et autres

pl, fr, at, de (code pays fourni par la source)

OCR-Stats: Robust estimation and statistical testing of mitochondrial respiration activities using Seahorse XF Analyzer

Vicente A. Yépez, Laura S. Kremer, Arcangela Iuso, Mirjana Gušić et autres

Abstract Accurate quantification of cellular and mitochondrial bioenergetic activity is of great interest in medicine and biology. Mitochondrial stress tests performed with Seahorse Bioscience XF Analyzers allow estimating different bioenergetic measures by monitoring oxygen consumption rates (OCR) of living cells in multi-well …

us, de (code pays fourni par la source)

Genetic diagnosis of Mendelian disorders via RNA sequencing

Laura S. Kremer, Daniel M. Bader, Christian Mertes, Robert Kopajtich et autres

Across a variety of Mendelian disorders, ∼50-75% of patients do not receive a genetic diagnosis by exome sequencing indicating disease-causing variants in non-coding regions. Although genome sequencing in principle reveals all genetic variants, their sizeable number and poorer annotation make prioritization challenging. …

de, us, fr, it, gb, at (code pays fourni par la source)

Genetic diagnosis of Mendelian disorders via RNA sequencing

Laura S. Kremer, Daniel M. Bader, Christian Mertes, Robert Kopajtich et autres

Abstract Across a large variety of Mendelian disorders, ~50-75% of patients do not receive a genetic diagnosis by whole exome sequencing indicative of underlying disease-causing variants in non-coding regions. In contrast, whole genome sequencing facilitates the discovery of all genetic variants, but …

de, fr, it, gb, at (code pays fourni par la source)

Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency

Rikke Katrine Jentoft Olsen, Eliška Koňaříková, Teresa Anna Giancaspero, Signe Mosegaard et autres

Multiple acyl-CoA dehydrogenase deficiencies (MADDs) are a heterogeneous group of metabolic disorders with combined respiratory-chain deficiency and a neuromuscular phenotype. Despite recent advances in understanding the genetic basis of MADD, a number of cases remain unexplained. Here, we report clinically relevant variants …

dk, de, it, gb, at, fi, fr, es, tr, au (code pays fourni par la source)