Zobrazeno 1 - 10
of 20
pro vyhledávání: '"Vilma Kaplanová"'
Autor:
Petr Pecina, Kristýna Čunátová, Vilma Kaplanová, Guillermo Puertas-Frias, Jan Šilhavý, Kateřina Tauchmannová, Marek Vrbacký, Tomáš Čajka, Ondřej Gahura, Markéta Hlaváčková, Viktor Stránecký, Stanislav Kmoch, Michal Pravenec, Josef Houštěk, Tomáš Mráček, Alena Pecinová
Publikováno v:
Communications Biology, Vol 7, Iss 1, Pp 1-17 (2024)
Abstract Metabolic syndrome is a growing concern in developed societies and due to its polygenic nature, the genetic component is only slowly being elucidated. Common mitochondrial DNA sequence variants have been associated with symptoms of metabolic
Externí odkaz:
https://doaj.org/article/d3f3d37db99e40758be1699d25e767e2
Autor:
Aleksandra Marković, Kateřina Tauchmannová, Miroslava Šimáková, Petr Mlejnek, Vilma Kaplanová, Petr Pecina, Alena Pecinová, František Papoušek, František Liška, Jan Šilhavý, Jana Mikešová, Jan Neckář, Josef Houštěk, Michal Pravenec, Tomáš Mráček
Publikováno v:
Biomedicines, Vol 10, Iss 2, p 276 (2022)
Mutations of the TMEM70 gene disrupt the biogenesis of the ATP synthase and represent the most frequent cause of autosomal recessive encephalo-cardio-myopathy with neonatal onset. Patient tissues show isolated defects in the ATP synthase, leading to
Externí odkaz:
https://doaj.org/article/6d1f7f1ea1dc471ab1b1eaf632bb0f64
Autor:
Lukáš Alán, Aleksandra Marković, Kateřina Tauchmannová, Miroslava Šimáková, Petr Mlejnek, Vilma Kaplanová, Petr Pecina, Alena Pecinová, Jan Šilhavý, Josef Houštěk, Michal Pravenec, Tomáš Mráček
Publikováno v:
Biochimica et Biophysica Acta (BBA) - Bioenergetics. 1863:148782
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d1d0d80727cfc6b8a6b130085dcdfe7f
https://doi.org/10.1016/j.bbabio.2022.148782
https://doi.org/10.1016/j.bbabio.2022.148782
Autor:
Lukáš Alán, Kristýna Čunátová, Kateřina Tauchmannová, Marek Vrbacký, Petr Pecina, Josef Houštěk, Tomáš Mráček, Vilma Kaplanová, Hana Nůsková, Jan Elias, Jana Kovalčíková, Andrea Brázdová, Vladimír Kořínek, Radislav Sedlacek
Publikováno v:
FASEB journal : official publication of the Federation of American Societies for Experimental BiologyREFERENCES. 33(12)
Biogenesis of F1Fo ATP synthase, the key enzyme of mitochondrial energy provision, depends on transmembrane protein 70 (TMEM70), localized in the inner mitochondrial membrane of higher eukaryotes. ...
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce6467f65b8f9f9094816b20bdeea5fa
https://pubmed.ncbi.nlm.nih.gov/31652072
https://pubmed.ncbi.nlm.nih.gov/31652072
Publikováno v:
Biochimica et biophysica acta. Bioenergetics. 1859(5)
The central stalk of mitochondrial ATP synthase consists of subunits γ, δ, and e, and along with the membraneous subunit c oligomer constitutes the rotor domain of the enzyme. Our previous studies showed that mutation or deficiency of e subunit mar
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dea24739479d9dd578291d81687dd13a
https://pubmed.ncbi.nlm.nih.gov/29499186
https://pubmed.ncbi.nlm.nih.gov/29499186
Autor:
Kristyna Bardova, Zdenek Drahota, Lukáš Alán, Michal Pravenec, Katerina Tauchmannova, Tomáš Mráček, Vilma Kaplanová, Jana Kovalčíková, David Habart, Josef Houstek, Jan Kopecky, Frantisek Papousek, Frantisek Kolar, Ludmila Kazdova, Petr Pecina, Alena Pecinova, Vaclav Zidek, Vladimír Landa, Marie Rodinova, Hana Nuskova
Publikováno v:
Biochimica et Biophysica Acta (BBA) - Bioenergetics. 1859:e15
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::22385e218203aec9c5b05b72d535ae6f
https://doi.org/10.1016/j.bbabio.2018.09.047
https://doi.org/10.1016/j.bbabio.2018.09.047
Autor:
Johannes A. Mayr, Vendula Havlíčková, Iris Magler, Vilma Kaplanová, Alena Pecinová, Josef Houštěk, Pavel Ješina, Wolfgang Sperl, Franz A. Zimmermann, Hana Nůsková, Johannes Koch
Publikováno v:
Human Molecular Genetics. 19:3430-3439
F1Fo-ATP synthase is a key enzyme of mitochondrial energy provision producing most of cellular ATP. So far, mitochondrial diseases caused by isolated disorders of the ATP synthase have been shown to result from mutations in mtDNA genes for the subuni
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::611f5375b4cc062708298c167b3e170e
https://doi.org/10.1093/hmg/ddq254
https://doi.org/10.1093/hmg/ddq254
Autor:
Hana Nůsková, Vilma Kaplanová, Pavel Ješina, Sara Seneca, Zdeněk Drahota, Kateřina Hejzlarová, Nikola Kovářová, Tomáš Mráček, Josef Houštěk
Publikováno v:
The Biochemical journal. 466(3)
Mutations in the MT-ATP6 gene are frequent causes of severe mitochondrial disorders. Typically, these are missense mutations, but another type is represented by the 9205delTA microdeletion, which removes the stop codon of the MT-ATP6 gene and affects
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b4f414ed13160c2c984057974a08dc40
https://pubmed.ncbi.nlm.nih.gov/25588698
https://pubmed.ncbi.nlm.nih.gov/25588698
Autor:
Alena Vojtiskova, Pavel Ješina, Josef Houštěk, Vilma Kaplanová, Hana Hansikova, Jiří Zeman, Petr Pecina, Daniela Fornůsková, Markéta Tesařová
Publikováno v:
Biochemical Journal. 383:561-571
Dysfunction of mitochondrial ATPase (F1Fo-ATP synthase) due to missense mutations in ATP6 [mtDNA (mitochondrial DNA)-encoded subunit a] is a frequent cause of severe mitochondrial encephalomyopathies. We have investigated a rare mtDNA mutation, i.e.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2608fc3fb4a7fb4208785784e0f82a7f
https://doi.org/10.1042/bj20040407
https://doi.org/10.1042/bj20040407
Segregation pattern and biochemical effect of the G3460A mtDNA mutation in 27 members of LHON family
Autor:
L Cerna, Hana Hansikova, Vilma Kaplanová, Jiří Zeman, Naděžda Mišovicová, Houst'ková H, Josef Houštěk
Publikováno v:
Journal of the Neurological Sciences. 223:149-155
Inheritance and expression of mitochondrial DNA (mtDNA) mutations are crucial for the pathogenesis of Leber hereditary optic neuropathy (LHON). We have investigated the segregation and functional consequences of G3460A mtDNA mutation in 27 members of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8bbca98eed7dd8f3e5aa7b7bc9783e9f
https://doi.org/10.1016/j.jns.2004.05.001
https://doi.org/10.1016/j.jns.2004.05.001