about
Knockdown of human Oxa1l impairs the biogenesis of F1Fo-ATP synthase and NADH:ubiquinone oxidoreductaseMutation of Nogo-B receptor, a subunit of cis-prenyltransferase, causes a congenital disorder of glycosylationYME1L controls the accumulation of respiratory chain subunits and is required for apoptotic resistance, cristae morphogenesis, and cell proliferationTMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathyTissue-specific cytochrome c oxidase assembly defects due to mutations in SCO2 and SURF1Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapyMutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome)Molecular diagnosis in mitochondrial complex I deficiency using exome sequencingAccumulation and impaired in vivo metabolism of di- and trihydroxycholestanoic acid in two patientsNoninvasive diagnostics of mitochondrial disorders in isolated lymphocytes with high resolution respirometryBiogenesis of eukaryotic cytochrome c oxidaseThe mammalian homologue of yeast Afg1 ATPase (lactation elevated 1) mediates degradation of nuclear-encoded complex IV subunits.LACE1 interacts with p53 and mediates its mitochondrial translocation and apoptosisWarburg effect's manifestation in aggressive pheochromocytomas and paragangliomas: insights from a mouse cell model applied to human tumor tissue.Two novel mutations in seven Czech and Slovak kindreds with familial neurohypophyseal diabetes insipidus-benefit of genetic testing.Development of a human mitochondrial oligonucleotide microarray (h-MitoArray) and gene expression analysis of fibroblast cell lines from 13 patients with isolated F1Fo ATP synthase deficiency.Transferrin mutations at the glycosylation site complicate diagnosis of congenital disorders of glycosylation type I.Large proteoglycan complexes and disturbed collagen architecture in the corneal extracellular matrix of mucopolysaccharidosis type VII (Sly syndrome).Two patients with clinically distinct manifestation of pyruvate dehydrogenase deficiency due to mutations in PDHA1 gene.Genetic defects of cytochrome c oxidase assembly.Vascular presentation of cystathionine beta-synthase deficiency in adulthood.Loss of function of Sco1 and its interaction with cytochrome c oxidase.Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease.Mitochondrial diseases and ATPase defects of nuclear origin.Capturing phenotypic heterogeneity in MPS I: results of an international consensus procedure.Mutations in ANTXR1 cause GAPO syndrome.Natural history of alpha mannosidosis a longitudinal studyA new case of ALG8 deficiency (CDG Ih).Assembly factors and ATP-dependent proteases in cytochrome c oxidase biogenesis.Large copy number variations in combination with point mutations in the TYMP and SCO2 genes found in two patients with mitochondrial disorders.Clinical manifestation of mitochondrial diseases.Thymidine kinase 2 and alanyl-tRNA synthetase 2 deficiencies cause lethal mitochondrial cardiomyopathy: case reports and review of the literature.Mitochondrial membrane assembly of TMEM70 protein.Genotype-phenotype correlation in 44 Czech, Slovak, Croatian and Serbian patients with mucopolysaccharidosis type II.Expression and processing of the TMEM70 protein.X-Chromosome Inactivation Analysis in Different Cell Types and Induced Pluripotent Stem Cells Elucidates the Disease Mechanism in a Rare Case of Mucopolysaccharidosis Type II in a Female.Clinical presentation and metabolic consequences in 40 breastfed infants with nutritional vitamin B12 deficiency--what have we learned?Mitochondrial Respiration in the Platelets of Patients with Alzheimer's Disease.Acid sphingomyelinase deficiency. Phenotype variability with prevalence of intermediate phenotype in a series of twenty-five Czech and Slovak patients. A multi-approach study.cblE type of homocystinuria due to methionine synthase reductase deficiency: functional correction by minigene expression.
P50
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P50
description
hulumtues
@sq
onderzoeker
@nl
pediatr, molekulární biolog, biochemik
@cs
researcher
@en
ricercatore
@it
հետազոտող
@hy
name
Jiri Zeman
@ast
Jiri Zeman
@en
Jiri Zeman
@es
Jiri Zeman
@nl
Jiri Zeman
@sl
Jiří Zeman
@cs
type
label
Jiri Zeman
@ast
Jiri Zeman
@en
Jiri Zeman
@es
Jiri Zeman
@nl
Jiri Zeman
@sl
Jiří Zeman
@cs
prefLabel
Jiri Zeman
@ast
Jiri Zeman
@en
Jiri Zeman
@es
Jiri Zeman
@nl
Jiri Zeman
@sl
Jiří Zeman
@cs
P106
P214
P1053
K-2691-2017
P1153
7101979492
P21
P214
P31
P3829
P496
0000-0002-2678-7919
P569
1950-01-01T00:00:00Z
P691
skuk0001517
P734
P735
P7859
viaf-85157787