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Petra Zavadakova

Explore the profile of Petra Zavadakova including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 10
Citations 208
Followers 0
Related Specialties
Genetics
General Medicine
Science
Top 10 Co-Authors
Viktor Kozich
Diana Ballhausen
Hugues Henry
Olivier Braissant
Jan Senderek
Carlo Rivolta
Terttu Suormala
Luisa Bonafe
Paris Jafari
Roman Chrast
Published In
PLoS One
Hum Mutat
J Biol Chem
Brain
Eur J Hum Genet
Affiliations
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Recent Articles
1.
Ammonium accumulation is a primary effect of 2-methylcitrate exposure in an in vitro model for brain damage in methylmalonic aciduria
Cudre-Cung H, Zavadakova P, do Vale-Pereira S, Remacle N, Henry H, Ivanisevic J, et al.
Mol Genet Metab . 2016 Sep; 119(1-2):57-67. PMID: 27599447
Using 3D organotypic rat brain cell cultures in aggregates we recently identified 2-methylcitrate (2-MCA) as the main toxic metabolite for developing brain cells in methylmalonic aciduria. Exposure to 2-MCA triggered...
2.
Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies
Safka Brozkova D, Deconinck T, Griffin L, Ferbert A, Haberlova J, Mazanec R, et al.
Brain . 2015 Jun; 138(Pt 8):2161-72. PMID: 26072516
Inherited peripheral neuropathies are a genetically heterogeneous group of disorders characterized by distal muscle weakness and sensory loss. Mutations in genes encoding aminoacyl-tRNA synthetases have been implicated in peripheral neuropathies,...
3.
PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot-Marie-Tooth disease
Azzedine H, Zavadakova P, Plante-Bordeneuve V, Pato M, Pinto N, Bartesaghi L, et al.
Hum Mol Genet . 2013 Jun; 22(20):4224-32. PMID: 23777631
Charcot-Marie-Tooth disease (CMT) comprises a clinically and genetically heterogeneous group of peripheral neuropathies characterized by progressive distal muscle weakness and atrophy, foot deformities and distal sensory loss. Following the analysis...
4.
Ammonium accumulation and cell death in a rat 3D brain cell model of glutaric aciduria type I
Jafari P, Braissant O, Zavadakova P, Henry H, Bonafe L, Ballhausen D
PLoS One . 2013 Jan; 8(1):e53735. PMID: 23326493
Glutaric aciduria type I (glutaryl-CoA dehydrogenase deficiency) is an inborn error of metabolism that usually manifests in infancy by an acute encephalopathic crisis and often results in permanent motor handicap....
5.
Brain damage in methylmalonic aciduria: 2-methylcitrate induces cerebral ammonium accumulation and apoptosis in 3D organotypic brain cell cultures
Jafari P, Braissant O, Zavadakova P, Henry H, Bonafe L, Ballhausen D
Orphanet J Rare Dis . 2013 Jan; 8:4. PMID: 23298464
Background: Methylmalonic aciduria is an inborn error of metabolism characterized by accumulation of methylmalonate (MMA), propionate and 2-methylcitrate (2-MCA) in body fluids. Early diagnosis and current treatment strategies aimed at...
6.
Genome-wide linkage in a highly consanguineous pedigree reveals two novel loci on chromosome 7 for non-syndromic familial Premature Ovarian Failure
Caburet S, Zavadakova P, Ben-Neriah Z, Bouhali K, Dipietromaria A, Charon C, et al.
PLoS One . 2012 Mar; 7(3):e33412. PMID: 22428046
Background: The human condition known as Premature Ovarian Failure (POF) is characterized by loss of ovarian function before the age of 40. A majority of POF cases are sporadic, but...
7.
The deep intronic c.903+469T>C mutation in the MTRR gene creates an SF2/ASF binding exonic splicing enhancer, which leads to pseudoexon activation and causes the cblE type of homocystinuria
Homolova K, Zavadakova P, Doktor T, Schroeder L, Kozich V, Andresen B
Hum Mutat . 2010 Feb; 31(4):437-44. PMID: 20120036
Deep intronic mutations are often ignored as possible causes of human diseases. A deep intronic mutation in the MTRR gene, c.903+469T>C, is the most frequent mutation causing the cblE type...
8.
cblE type of homocystinuria due to methionine synthase reductase deficiency: functional correction by minigene expression
Zavadakova P, Fowler B, Suormala T, Novotna Z, Mueller P, Hennermann J, et al.
Hum Mutat . 2005 Feb; 25(3):239-47. PMID: 15714522
The cblE type of homocystinuria is a rare autosomal recessive disorder caused by impaired reductive activation of methionine synthase. Although earlier biochemical studies proposed that the methionine synthase enzyme might...
9.
Single-nucleotide polymorphisms in genes relating to homocysteine metabolism: how applicable are public SNP databases to a typical European population?
Janosikova B, Zavadakova P, Kozich V
Eur J Hum Genet . 2004 Oct; 13(1):86-95. PMID: 15494741
To facilitate the association studies in complex diseases characterized by hyperhomocysteinemia, we collected structural and frequency data on single-nucleotide polymorphism (SNPs) in 24 genes relating to homocysteine metabolism. Firstly, we...
10.
The cblD defect causes either isolated or combined deficiency of methylcobalamin and adenosylcobalamin synthesis
Suormala T, Baumgartner M, Coelho D, Zavadakova P, Kozich V, Koch H, et al.
J Biol Chem . 2004 Aug; 279(41):42742-9. PMID: 15292234
Intracellular cobalamin is converted to adenosylcobalamin, coenzyme for methylmalonyl-CoA mutase and to methylcobalamin, coenzyme for methionine synthase, in an incompletely understood sequence of reactions. Genetic defects of these steps are...