List of works - Pavel Ješina

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

scientific article

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

scientific article published on December 10, 2012

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.

scientific article published on 20 December 2014

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

scientific article

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

scientific article published on 13 November 2012

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.

scientific article published on November 2004

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

scientific article published on 12 November 2010

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

scientific article published on 16 September 2014

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

scientific article

Mitochondrial Membrane Potential and ATP Production in Primary Disorders of ATP Synthase

article

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

scientific article

Mitochondrial diseases and genetic defects of ATP synthase.

scientific article

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

scientific article published in April 2010

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

scientific article published on 10 January 2012

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

scientific article

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

scientific article published on 30 August 2013

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

scientific article

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

scientific article published on 9 June 2005

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

scientific article published on 26 May 2016

Thioethers as markers of hydrogen sulfide production in homocystinurias.

scientific article published on 11 January 2016

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

scientific article

Pompeho nemoc ⬇️

book edition published in 2016

List of works by Pavel Ješina

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

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

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.

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

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

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.

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

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

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

Mitochondrial Membrane Potential and ATP Production in Primary Disorders of ATP Synthase

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

Mitochondrial diseases and genetic defects of ATP synthase.

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

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

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

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

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

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

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

Thioethers as markers of hydrogen sulfide production in homocystinurias.

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

Pompeho nemoc ⬇️