Genomes and Genes
Affiliation: Department of Epileptology, University of Bonn
Location: Bonn, Germany
- Mitochondrial mutation as a probable causative factor in familial progressive tubulointerstitial nephritisG 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...
- Conditional knockdown of hMRS2 results in loss of mitochondrial Mg(2+) uptake and cell deathMartin 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...
- Apraxia of lid opening mimicking ptosis in compound heterozygosity for A467T and W748S POLG1 mutationsSebastian 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...
- Clonally expanded mitochondrial DNA mutations in epileptic individuals with mutated DNA polymerase gammaGabor 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...
- Proof of progression over time: finally fulminant brain, muscle, and liver affection in Alpers syndrome associated with the A467T POLG1 mutationM 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...
- Clonal expansion of different mtDNA variants without selective advantage in solid tumorsJulia 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....
- Mitochondrial involvement in temporal lobe epilepsyAlexei 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...
- Severe epilepsy as the major symptom of new mutations in the mitochondrial tRNA(Phe) geneG 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...
- 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...
- Distinct patterns of mitochondrial genome diversity in bonobos (Pan paniscus) and humansGabor 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...
- Mitochondrial dysfunction in neurological disorders with epileptic phenotypesGabor 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...
- Concerted action of two novel tRNA mtDNA point mutations in chronic progressive external ophthalmoplegiaCornelia 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...
- Inheritance of mitochondrial DNA recombinants in double-heteroplasmic families: potential implications for phylogenetic analysisGabor 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...
- No mitochondrial haplotype was found to increase risk for Alzheimer's diseaseG 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...
- Familial mitochondrial tubulointerstitial nephropathyJ Ormos
Department of Pathology, Albert Szent Gyorgyi Medical University, Szeged, Hungary
Nephrol Dial Transplant 14:785-6. 1999
- The mitochondrial inner membrane protein Lpe10p, a homologue of Mrs2p, is essential for magnesium homeostasis and group II intron splicing in yeastJ 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...
- The human mitochondrial Mrs2 protein functionally substitutes for its yeast homologue, a candidate magnesium transporterG 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...
- Role of DNA minor groove interactions in substrate recognition by the M.SinI and M.EcoRII DNA (cytosine-5) methyltransferasesA 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...
- Mrs2p is an essential component of the major electrophoretic Mg2+ influx system in mitochondriaMartin 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...
- The LETM1/YOL027 gene family encodes a factor of the mitochondrial K+ homeostasis with a potential role in the Wolf-Hirschhorn syndromeKarin 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...
- Tissue dependent co-segregation of the novel pathogenic G12276A mitochondrial tRNALeu(CUN) mutation with the A185G D-loop polymorphismG Zsurka
J Med Genet 41:e124. 2004
- Recombination of mitochondrial DNA in skeletal muscle of individuals with multiple mitochondrial DNA heteroplasmyGabor 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...
- Mitochondrial DNA damage and the aging process: facts and imaginationsRudolf 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...
- Mutation in the mitochondrial tRNA(Ile) gene causes progressive myoclonus epilepsyGabor 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...