Zobrazeno 1 - 10
of 48
pro vyhledávání: '"Alexei P Kudin"'
Autor:
Florian Stöckigt, Lars Eichhorn, Thomas Beiert, Vincent Knappe, Tobias Radecke, Martin Steinmetz, Georg Nickenig, Viktoriya Peeva, Alexei P Kudin, Wolfram S Kunz, Carolin Berwanger, Lisa Kamm, Dorothea Schultheis, Ursula Schlötzer-Schrehardt, Christoph S Clemen, Rolf Schröder, Jan W Schrickel
Publikováno v:
PLoS ONE, Vol 15, Iss 3, p e0228913 (2020)
BACKGROUND:Mutations in the human desmin gene (DES) cause autosomal-dominant and -recessive cardiomyopathies, leading to heart failure, arrhythmias, and AV blocks. We analyzed the effects of vascular pressure overload in a patient-mimicking p.R349P d
Externí odkaz:
https://doaj.org/article/9b3c7dcd411b41b8b55eb9e9f2bd2763
Autor:
Alexandra Kukat, Sukru Anil Dogan, Daniel Edgar, Arnaud Mourier, Christoph Jacoby, Priyanka Maiti, Jan Mauer, Christina Becker, Katharina Senft, Rolf Wibom, Alexei P Kudin, Kjell Hultenby, Ulrich Flögel, Stephan Rosenkranz, Daniel Ricquier, Wolfram S Kunz, Aleksandra Trifunovic
Publikováno v:
PLoS Genetics, Vol 10, Iss 6, p e1004385 (2014)
Although mitochondrial dysfunction is often accompanied by excessive reactive oxygen species (ROS) production, we previously showed that an increase in random somatic mtDNA mutations does not result in increased oxidative stress. Normal levels of ROS
Externí odkaz:
https://doaj.org/article/874cce9099f1487993ef890ff62f85e0
Autor:
Suzana Gispert, Filomena Ricciardi, Alexander Kurz, Mekhman Azizov, Hans-Hermann Hoepken, Dorothea Becker, Wolfgang Voos, Kristina Leuner, Walter E Müller, Alexei P Kudin, Wolfram S Kunz, Annabelle Zimmermann, Jochen Roeper, Dirk Wenzel, Marina Jendrach, Moisés García-Arencíbia, Javier Fernández-Ruiz, Leslie Huber, Hermann Rohrer, Miguel Barrera, Andreas S Reichert, Udo Rüb, Amy Chen, Robert L Nussbaum, Georg Auburger
Publikováno v:
PLoS ONE, Vol 4, Iss 6, p e5777 (2009)
BackgroundParkinson's disease (PD) is an adult-onset movement disorder of largely unknown etiology. We have previously shown that loss-of-function mutations of the mitochondrial protein kinase PINK1 (PTEN induced putative kinase 1) cause the recessiv
Externí odkaz:
https://doaj.org/article/45f68ab49b2d403fa1646e411e62f433
Autor:
Genevieve Trombly, Afaf Milad Said, Alexei P. Kudin, Viktoriya Peeva, Janine Altmüller, Kerstin Becker, Karl Köhrer, Gábor Zsurka, Wolfram S. Kunz
Publikováno v:
Antioxidants, Vol 12, Iss 5, p 1087 (2023)
Mitochondrial DNA (mtDNA) is particularly vulnerable to somatic mutagenesis. Potential mechanisms include DNA polymerase γ (POLG) errors and the effects of mutagens, such as reactive oxygen species. Here, we studied the effects of transient hydrogen
Externí odkaz:
https://doaj.org/article/3327a0df787d4a85b1cbf5b2365550ed
Publikováno v:
Biochemistry. Biokhimiia. 86(1)
In this work we studied molecular and functional effects of the loss of the smallest nuclear encoded subunit of cytochrome c oxidase COX8A in fibroblasts from a patient with a homozygous splice site mutation and in CRISPR/Cas9 genome-edited HEK293T c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d7c3aeed5168bed722c18a4a1b16db71
https://pubmed.ncbi.nlm.nih.gov/33705280
https://pubmed.ncbi.nlm.nih.gov/33705280
Autor:
Tobias Radecke, Ursula Schlötzer-Schrehardt, Vincent Knappe, Jan W. Schrickel, Viktoriya Peeva, Carolin Berwanger, Lars Eichhorn, Thomas Beiert, Christoph S. Clemen, Florian Stöckigt, Lisa Kamm, Georg Nickenig, Rolf Schröder, Wolfram S. Kunz, Alexei P. Kudin, Dorothea Schultheis, Martin Steinmetz
Publikováno v:
PLoS ONE, Vol 15, Iss 3, p e0228913 (2020)
PLoS ONE
PLoS ONE
Background Mutations in the human desmin gene (DES) cause autosomal-dominant and -recessive cardiomyopathies, leading to heart failure, arrhythmias, and AV blocks. We analyzed the effects of vascular pressure overload in a patient-mimicking p.R349P d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ef6c35edcf370954be2b04f744a825b
https://doaj.org/article/9b3c7dcd411b41b8b55eb9e9f2bd2763
https://doaj.org/article/9b3c7dcd411b41b8b55eb9e9f2bd2763
Autor:
Noelia Fradejas-Villar, Ann-Kathrin Ruppert, Yvonne G. Weber, Alexander Grote, Herbert Schulz, Christian E. Elger, Gregor Baron, Ulrich Schweizer, Elias S.J. Arnér, Gábor Zsurka, Sandra Seeher, Kevin G. Hampel, Lutz Schomburg, Peter Nürnberg, Alexei P. Kudin, Holger Lerche, Wolfram S. Kunz, Qing Cheng, Holger Thiele, Thomas Sander
Publikováno v:
FREE RADICAL BIOLOGY AND MEDICINE
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Increased oxidative stress has been widely implicated in the pathogenesis in various forms of human epilepsy. Here, we report a homozygous mutation in TXNRD1 (thioredoxin reductase 1) in a family with genetic generalized epilepsy. TXNRD1 is an essent
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::369f6a618380fb2d37f75f9727843d91
https://doi.org/10.1016/j.freeradbiomed.2017.02.040
https://doi.org/10.1016/j.freeradbiomed.2017.02.040
Autor:
Michal Minczuk, Viktoriya Peeva, Alexei P. Kudin, Wolfram S. Kunz, Daniel Blei, Pedro Rebelo-Guiomar, Gábor Zsurka, Payam A. Gammage, Sarah Corsi, Maciej J. Szukszto, Janine Altmüller, Christian Becker, Genevieve Trombly
Publikováno v:
Nature Communications
Nature Communications, Vol 9, Iss 1, Pp 1-11 (2018)
Nature Communications, Vol 9, Iss 1, Pp 1-11 (2018)
Emerging gene therapy approaches that aim to eliminate pathogenic mutations of mitochondrial DNA (mtDNA) rely on efficient degradation of linearized mtDNA, but the enzymatic machinery performing this task is presently unknown. Here, we show that, in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a89b61a2e33bf3ec31de2b5a72c814af
http://europepmc.org/articles/PMC5928156
http://europepmc.org/articles/PMC5928156
Loss of the smallest subunit of cytochrome c oxidase, COX8A, causes Leigh-like syndrome and epilepsy
Autor:
Cornelia Rüb, Kerstin Hallmann, Stephan Waltz, Gábor Zsurka, Burkhard Stüve, Holger Thiele, Jens Kopatz, Cornelia Kornblum, Jens Reimann, Peter Nürnberg, Elke Hattingen, Wolfgang Voos, Alexei P. Kudin, Wolfram S. Kunz, Harald Neumann
Publikováno v:
Brain. 139:338-345
Isolated cytochrome c oxidase (complex IV) deficiency is one of the most frequent respiratory chain defects in humans and is usually caused by mutations in proteins required for assembly of the complex. Mutations in nuclear-encoded structural subunit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f67b66e72fea6610991cb1292b07b7d1
https://doi.org/10.1093/brain/awv357
https://doi.org/10.1093/brain/awv357
Autor:
Arik Eisenkraft, Christian E. Elger, Alexei P. Kudin, Wolfram S. Kunz, Hafiz Mawasi, Meir Bialer
Publikováno v:
International Journal of Molecular Sciences; Volume 18; Issue 9; Pages: 1912
International Journal of Molecular Sciences
International Journal of Molecular Sciences, Vol 18, Iss 9, p 1912 (2017)
International Journal of Molecular Sciences
International Journal of Molecular Sciences, Vol 18, Iss 9, p 1912 (2017)
The liver toxicity of valproic acid (VPA) is an established side effect of this widely used antiepileptic drug, which is extremely problematic for patients with metabolic epilepsy and particularly epilepsy due to mitochondrial dysfunction. In the pre
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::244ef229c4088477bd87b8775c1bd446