Gábor Zsurka

Summary

Affiliation: Department of Epileptology, University of Bonn
Location: Bonn, Germany
URL: www.mitowheel.org
Summary:
mitochondrial genetics

Publications

  1. ncbi Mitochondrial mutation as a probable causative factor in familial progressive tubulointerstitial nephritis
    G Zsurka
    Institute of Biochemistry of the Biological Research Center, Szeged, Hungary
    Hum Genet 99:484-7. 1997
  2. doi Conditional knockdown of hMRS2 results in loss of mitochondrial Mg(2+) uptake and cell death
    Martin Piskacek
    Department of Genetics, Vienna University, Austria
    J Cell Mol Med 13:693-700. 2009
  3. doi Apraxia of lid opening mimicking ptosis in compound heterozygosity for A467T and W748S POLG1 mutations
    Sebastian Paus
    Department of Neurology, University of Bonn, Bonn, Germany
    Mov Disord 23:1286-8. 2008
  4. doi Clonally expanded mitochondrial DNA mutations in epileptic individuals with mutated DNA polymerase gamma
    Gabor Zsurka
    Department of Epileptology, Life and Brain Center, University Bonn, Bonn, Germany
    J Neuropathol Exp Neurol 67:857-66. 2008
  5. doi Proof of progression over time: finally fulminant brain, muscle, and liver affection in Alpers syndrome associated with the A467T POLG1 mutation
    M Boes
    Department of Epileptology, University Hospital of Bonn, Germany
    Seizure 18:232-4. 2009
  6. doi Clonal expansion of different mtDNA variants without selective advantage in solid tumors
    Julia Gekeler
    Institute of Vegetative Physiology, Department of Otorhinolaryngology, Head and Neck Surgery, Faculty of Medicine, University of Koln, Germany
    Mutat Res 662:28-32. 2009
  7. doi Mitochondrial involvement in temporal lobe epilepsy
    Alexei P Kudin
    Department of Epileptology, University Bonn Medical Center, Germany
    Exp Neurol 218:326-32. 2009
  8. doi Severe epilepsy as the major symptom of new mutations in the mitochondrial tRNA(Phe) gene
    G Zsurka
    Department of Epileptology and Life and Brain Center, University of Bonn, Bonn, Germany
    Neurology 74:507-12. 2010
  9. pmc Repeats, longevity and the sources of mtDNA deletions: evidence from 'deletional spectra'
    Xinhong Guo
    Harvard Medical School Beth Israel Deaconess Medical Center, Boston, MA, USA
    Trends Genet 26:340-3. 2010
  10. pmc Distinct patterns of mitochondrial genome diversity in bonobos (Pan paniscus) and humans
    Gabor Zsurka
    Division of Neurochemistry, Department of Epileptology and Life and Brain Center, University Bonn, Sigmund Freud Str 25, 53105 Bonn, Germany
    BMC Evol Biol 10:270. 2010

Collaborators

Detail Information

Publications24

  1. ncbi Mitochondrial mutation as a probable causative factor in familial progressive tubulointerstitial nephritis
    G Zsurka
    Institute of Biochemistry of the Biological Research Center, Szeged, Hungary
    Hum Genet 99:484-7. 1997
    ..No major deletions were found, but an A to G mutation was detected in position 5656. It is proposed that this mutation might play a causative role in the renal disease of the patients...
  2. doi Conditional knockdown of hMRS2 results in loss of mitochondrial Mg(2+) uptake and cell death
    Martin Piskacek
    Department of Genetics, Vienna University, Austria
    J Cell Mol Med 13:693-700. 2009
    ..We conclude that hMrs2 is the major transport protein for Mg (+) uptake into mitochondria and that expression of hMrs2 is essential for the maintenance of respiratory complex I and cell viability...
  3. doi Apraxia of lid opening mimicking ptosis in compound heterozygosity for A467T and W748S POLG1 mutations
    Sebastian Paus
    Department of Neurology, University of Bonn, Bonn, Germany
    Mov Disord 23:1286-8. 2008
    ..So far, focal dystonia has not been reported in POLG1 mutation carriers, and should be considered when investigating patients with PEO and ptosis. Further studies on POLG1 mutations in focal dystonia are warranted...
  4. doi Clonally expanded mitochondrial DNA mutations in epileptic individuals with mutated DNA polymerase gamma
    Gabor Zsurka
    Department of Epileptology, Life and Brain Center, University Bonn, Bonn, Germany
    J Neuropathol Exp Neurol 67:857-66. 2008
    ..Moreover, these results suggest a potential diagnostic approach for identifying mtDNA depletion in patients...
  5. doi Proof of progression over time: finally fulminant brain, muscle, and liver affection in Alpers syndrome associated with the A467T POLG1 mutation
    M Boes
    Department of Epileptology, University Hospital of Bonn, Germany
    Seizure 18:232-4. 2009
    ..Consecutive diagnostic examinations clearly reflected the devastating clinical course and cerebral deterioration evolving over time in Alpers syndrome...
  6. doi Clonal expansion of different mtDNA variants without selective advantage in solid tumors
    Julia Gekeler
    Institute of Vegetative Physiology, Department of Otorhinolaryngology, Head and Neck Surgery, Faculty of Medicine, University of Koln, Germany
    Mutat Res 662:28-32. 2009
    ....
  7. doi Mitochondrial involvement in temporal lobe epilepsy
    Alexei P Kudin
    Department of Epileptology, University Bonn Medical Center, Germany
    Exp Neurol 218:326-32. 2009
    ..Therefore, mitochondria have to be considered as promising targets for neuroprotective strategies in epilepsy...
  8. doi Severe epilepsy as the major symptom of new mutations in the mitochondrial tRNA(Phe) gene
    G Zsurka
    Department of Epileptology and Life and Brain Center, University of Bonn, Bonn, Germany
    Neurology 74:507-12. 2010
    ..To present 2 families with maternally inherited severe epilepsy as the main symptom of mitochondrial disease due to point mutations at position 616 in the mitochondrial tRNA(Phe) (MT-TF) gene...
  9. pmc Repeats, longevity and the sources of mtDNA deletions: evidence from 'deletional spectra'
    Xinhong Guo
    Harvard Medical School Beth Israel Deaconess Medical Center, Boston, MA, USA
    Trends Genet 26:340-3. 2010
    ..Furthermore, significant dissimilarities in breakpoint distributions suggest that multiple mechanisms are involved in creating mtDNA deletions...
  10. pmc Distinct patterns of mitochondrial genome diversity in bonobos (Pan paniscus) and humans
    Gabor Zsurka
    Division of Neurochemistry, Department of Epileptology and Life and Brain Center, University Bonn, Sigmund Freud Str 25, 53105 Bonn, Germany
    BMC Evol Biol 10:270. 2010
    ..We have analyzed the complete mitochondrial genomes of 22 Pan paniscus (bonobo, pygmy chimpanzee) individuals to assess the detailed mitochondrial DNA (mtDNA) phylogeny of this close relative of Homo sapiens...
  11. doi Mitochondrial dysfunction in neurological disorders with epileptic phenotypes
    Gabor Zsurka
    Division of Neurochemistry, Department of Epileptology, University Bonn Medical Center, Sigmund Freud Str 25, D53105, Bonn, Germany
    J Bioenerg Biomembr 42:443-8. 2010
    ..This implies a direct pathogenic role of mitochondrial dysfunction in the process of epileptogenesis and seizure generation in certain forms of epilepsy...
  12. doi Concerted action of two novel tRNA mtDNA point mutations in chronic progressive external ophthalmoplegia
    Cornelia Kornblum
    Department of Neurology, University of Bonn Medical Center, Bonn, D 53105, Germany
    Biosci Rep 28:89-96. 2008
    ..Thus homoplasmic mutations may influence the functional consequences of pathogenic heteroplasmic mtDNA mutations...
  13. pmc Inheritance of mitochondrial DNA recombinants in double-heteroplasmic families: potential implications for phylogenetic analysis
    Gabor Zsurka
    Department of Epileptology, University Bonn Medical Center, Bonn, Germany
    Am J Hum Genet 80:298-305. 2007
    ..We therefore propose that certain reticulations of the human mtDNA phylogenetic tree might be explained by recombination of coexisting mtDNA molecules harboring multiple mutations...
  14. ncbi No mitochondrial haplotype was found to increase risk for Alzheimer's disease
    G Zsurka
    Institute of Biochemistry, Biological Research Center of the Hungarian Academy of Sciences, Szeged, Hungary
    Biol Psychiatry 44:371-3. 1998
    ..The distribution of apolipoprotein E (apoE) alleles was also analyzed...
  15. ncbi Familial mitochondrial tubulointerstitial nephropathy
    J Ormos
    Department of Pathology, Albert Szent Gyorgyi Medical University, Szeged, Hungary
    Nephrol Dial Transplant 14:785-6. 1999
  16. ncbi The mitochondrial inner membrane protein Lpe10p, a homologue of Mrs2p, is essential for magnesium homeostasis and group II intron splicing in yeast
    J Gregan
    Vienna Biocenter, Department of Microbiology and Genetics, University of Vienna, Austria
    Mol Gen Genet 264:773-81. 2001
    ..However, they cannot easily substitute for each other. Their roles in magnesium homeostasis and, possibly as a secondary effect, in RNA splicing are discussed...
  17. ncbi The human mitochondrial Mrs2 protein functionally substitutes for its yeast homologue, a candidate magnesium transporter
    G Zsurka
    Vienna Biocenter, Department of Microbiology and Genetics, University of Vienna, Dr Bohrgasse 9, Vienna, A 1030, Austria
    Genomics 72:158-68. 2001
    ..Like its yeast homologues, hsaMrs2p has been localized in mitochondria. The hsaMRS2 gene is located on chromosome 6 (6p22.1-p22.3) and is composed of 11 exons. A low level of the transcript is detected in various mouse tissues...
  18. pmc Role of DNA minor groove interactions in substrate recognition by the M.SinI and M.EcoRII DNA (cytosine-5) methyltransferases
    A Kiss
    Institute of Biochemistry, Biological Research Center of the Hungarian Academy of Sciences, PO Box 521, Szeged 6701, Hungary
    Nucleic Acids Res 29:3188-94. 2001
    ..These observations indicate that (A)/(T) versus (G)/(C) discrimination is mediated by interactions between the large domain of the methyltransferase and the minor groove surface of the DNA...
  19. pmc Mrs2p is an essential component of the major electrophoretic Mg2+ influx system in mitochondria
    Martin Kolisek
    Vienna Biocenter, Institute of Microbiology and Genetics, University of Vienna, Dr Bohrgasse, A 1030 Vienna, Austria
    EMBO J 22:1235-44. 2003
    ..Taken together, these findings characterize Mrs2p as the first molecularly identified metal ion channel protein in the inner mitochondrial membrane...
  20. ncbi The LETM1/YOL027 gene family encodes a factor of the mitochondrial K+ homeostasis with a potential role in the Wolf-Hirschhorn syndrome
    Karin Nowikovsky
    Max F Perutz Laboratories, Departments of Microbiology and Genetics, University of Vienna, Campus Vienna Biocenter, A 1030 Vienna, Austria
    J Biol Chem 279:30307-15. 2004
    ..Thus, YOL027/LETM1 are the first genes shown to encode factors involved in both K+ homeostasis and organelle volume control...
  21. pmc Tissue dependent co-segregation of the novel pathogenic G12276A mitochondrial tRNALeu(CUN) mutation with the A185G D-loop polymorphism
    G Zsurka
    J Med Genet 41:e124. 2004
  22. pmc Recombination of mitochondrial DNA in skeletal muscle of individuals with multiple mitochondrial DNA heteroplasmy
    Gabor Zsurka
    Department of Epileptology, University Bonn Medical Center, Bonn, Germany
    Nat Genet 37:873-7. 2005
    ..These findings indicate that mtDNA recombination is common in human skeletal muscle...
  23. ncbi Mitochondrial DNA damage and the aging process: facts and imaginations
    Rudolf J Wiesner
    Faculty of Medicine, Institute of Vegetative Physiology, University of Koln, Koln, Germany
    Free Radic Res 40:1284-94. 2006
    ..However, the accumulation of acquired mutations to functionally relevant levels in aged tissues seems to be a consequence of clonal expansions of single founder molecules and not of ongoing mutational events...
  24. doi Mutation in the mitochondrial tRNA(Ile) gene causes progressive myoclonus epilepsy
    Gabor Zsurka
    Department of Epileptology and Life and Brain Center, University of Bonn, Germany
    Seizure 22:483-6. 2013
    ..The underlying genetic defect in most patients with the syndrome of MERRF is a mutation in the tRNALys gene, but mutations were also detected in the tRNAPhe gene...