List of works - Jiri Zeman

Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy

scientific article

Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene

scientific article

Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing

scientific article

Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease.

scientific article published on 7 November 2011

TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy

scientific article

YME1L controls the accumulation of respiratory chain subunits and is required for apoptotic resistance, cristae morphogenesis, and cell proliferation

scientific article

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype

scientific article published on 15 April 2015

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation

scientific article published on 15 April 2015

Novel insights into the assembly and function of human nuclear-encoded cytochromecoxidase subunits 4, 5a, 6a, 7a and 7b

scientific article published in 2010

Loss of function of Sco1 and its interaction with cytochrome c oxidase

scientific article

Tissue-specific cytochrome c oxidase assembly defects due to mutations in SCO2 and SURF1

scientific article

Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome)

scientific article

Knockdown of human Oxa1l impairs the biogenesis of F1Fo-ATP synthase and NADH:ubiquinone oxidoreductase

scientific article

Genetic defects of cytochrome c oxidase assembly.

scientific article

Mutation of Nogo-B receptor, a subunit of cis-prenyltransferase, causes a congenital disorder of glycosylation

scientific article

Mutations in ANTXR1 cause GAPO syndrome.

scientific article published on 18 April 2013

Clinical presentation and metabolic consequences in 40 breastfed infants with nutritional vitamin B12 deficiency--what have we learned?

scientific article

Deficiency of mitochondrial ATP synthase of nuclear genetic origin

scientific article published on 17 October 2006

Retrospective, multicentric study of 180 children with cytochrome C oxidase deficiency.

scientific article published on 2 December 2005

Acid sphingomyelinase deficiency. Phenotype variability with prevalence of intermediate phenotype in a series of twenty-five Czech and Slovak patients. A multi-approach study

scientific article

Altered properties of mitochondrial ATP-synthase in patients with a T-->G mutation in the ATPase 6 (subunit a) gene at position 8993 of mtDNA

article

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

Mitochondrial DNA content and expression of genes involved in mtDNA transcription, regulation and maintenance during human fetal development

scientific article published on 20 January 2010

The clinical spectrum of mitochondrial disease in 75 pediatric patients

scientific article published in October 2003

Functional alteration of cytochrome c oxidase by SURF1 mutations in Leigh syndrome

scientific article published in September 2003

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

scientific article published in April 2010

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

Defective kinetics of cytochrome c oxidase and alteration of mitochondrial membrane potential in fibroblasts and cytoplasmic hybrid cells with the mutation for myoclonus epilepsy with ragged-red fibres ('MERRF') at position 8344 nt.

scientific article published on September 1999

Lethal fetal and early neonatal presentation of adenylosuccinate lyase deficiency: observation of 6 patients in 4 families

scientific article published on January 2007

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

scientific article

TMEM70 deficiency: long-term outcome of 48 patients

scientific article published on 18 October 2014

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

scientific article published on 14 March 2016

Bone mineral density in patients with phenylketonuria

scientific article published on 01 December 1999

A novel insertion of a rearranged L1 element in exon 44 of the dystrophin gene: Further evidence for possible bias in retroposon integration

article

"Peripheral" tetrahydrobiopterin deficiency with hyperphenylalaninaemia due to incomplete 6-pyruvoyl tetrahydropterin synthase deficiency or heterozygosity

scientific article published in May 1987

Impact of age at onset and newborn screening on outcome in organic acidurias

scientific article published on 21 December 2015

Decreased affinity for oxygen of cytochrome-c oxidase in Leigh syndrome caused by SURF1 mutations

scientific article published on 21 July 2004

Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders

scientific article

cblE type of homocystinuria due to methionine synthase reductase deficiency: functional correction by minigene expression.

scientific article published on March 2005

Natural history of alpha mannosidosis a longitudinal study

scientific article published on 20 June 2013

Liver findings in Niemann-Pic disease type C

scientific article published on 01 November 1984

HOMOZYGOUS VARIEGATE PORPHYRIA

scientific article published in The Lancet

TMEM70 protein — A novel ancillary factor of mammalian ATP synthase

scientific article published on 06 December 2008

Homocystinuria due to cystathionine beta-synthase deficiency: novel biochemical findings and treatment efficacy

scientific article

Eight novel ABCD1 gene mutations and three polymorphisms in patients with X-linked adrenoleukodystrophy: The first polymorphism causing an amino acid exchange.

scientific article published in January 2001

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

scientific article

Mitochondrial diseases and ATPase defects of nuclear origin.

scientific article published in July 2004

The impact of mitochondrial tRNA mutations on the amount of ATP synthase differs in the brain compared to other tissues

Vascular presentation of cystathionine beta-synthase deficiency in adulthood.

scientific article

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

scientific article published on 14 November 2016

List of works by Jiri Zeman

Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy

Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene

Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing

Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease.

TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy

YME1L controls the accumulation of respiratory chain subunits and is required for apoptotic resistance, cristae morphogenesis, and cell proliferation

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation

Novel insights into the assembly and function of human nuclear-encoded cytochromecoxidase subunits 4, 5a, 6a, 7a and 7b

Loss of function of Sco1 and its interaction with cytochrome c oxidase

Tissue-specific cytochrome c oxidase assembly defects due to mutations in SCO2 and SURF1

Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome)

Knockdown of human Oxa1l impairs the biogenesis of F1Fo-ATP synthase and NADH:ubiquinone oxidoreductase

Genetic defects of cytochrome c oxidase assembly.

Mutation of Nogo-B receptor, a subunit of cis-prenyltransferase, causes a congenital disorder of glycosylation

Mutations in ANTXR1 cause GAPO syndrome.

Clinical presentation and metabolic consequences in 40 breastfed infants with nutritional vitamin B12 deficiency--what have we learned?

Deficiency of mitochondrial ATP synthase of nuclear genetic origin

Retrospective, multicentric study of 180 children with cytochrome C oxidase deficiency.

Acid sphingomyelinase deficiency. Phenotype variability with prevalence of intermediate phenotype in a series of twenty-five Czech and Slovak patients. A multi-approach study

Altered properties of mitochondrial ATP-synthase in patients with a T-->G mutation in the ATPase 6 (subunit a) gene at position 8993 of mtDNA

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

Mitochondrial DNA content and expression of genes involved in mtDNA transcription, regulation and maintenance during human fetal development

The clinical spectrum of mitochondrial disease in 75 pediatric patients

Functional alteration of cytochrome c oxidase by SURF1 mutations in Leigh syndrome

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

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.

Defective kinetics of cytochrome c oxidase and alteration of mitochondrial membrane potential in fibroblasts and cytoplasmic hybrid cells with the mutation for myoclonus epilepsy with ragged-red fibres ('MERRF') at position 8344 nt.

Lethal fetal and early neonatal presentation of adenylosuccinate lyase deficiency: observation of 6 patients in 4 families

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

TMEM70 deficiency: long-term outcome of 48 patients

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

Bone mineral density in patients with phenylketonuria

A novel insertion of a rearranged L1 element in exon 44 of the dystrophin gene: Further evidence for possible bias in retroposon integration

"Peripheral" tetrahydrobiopterin deficiency with hyperphenylalaninaemia due to incomplete 6-pyruvoyl tetrahydropterin synthase deficiency or heterozygosity

Impact of age at onset and newborn screening on outcome in organic acidurias

Decreased affinity for oxygen of cytochrome-c oxidase in Leigh syndrome caused by SURF1 mutations

Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders

cblE type of homocystinuria due to methionine synthase reductase deficiency: functional correction by minigene expression.

Natural history of alpha mannosidosis a longitudinal study

Liver findings in Niemann-Pic disease type C

HOMOZYGOUS VARIEGATE PORPHYRIA

TMEM70 protein — A novel ancillary factor of mammalian ATP synthase

Homocystinuria due to cystathionine beta-synthase deficiency: novel biochemical findings and treatment efficacy

Eight novel ABCD1 gene mutations and three polymorphisms in patients with X-linked adrenoleukodystrophy: The first polymorphism causing an amino acid exchange.

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

Mitochondrial diseases and ATPase defects of nuclear origin.

The impact of mitochondrial tRNA mutations on the amount of ATP synthase differs in the brain compared to other tissues

Vascular presentation of cystathionine beta-synthase deficiency in adulthood.

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