Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Hana Štufková"'
Autor:
Marie Rodinova, Jana Krizova, Hana Stufkova, Bozena Bohuslavova, Georgina Askeland, Zaneta Dosoudilova, Stefan Juhas, Jana Juhasova, Zdenka Ellederova, Jiri Zeman, Lars Eide, Jan Motlik, Hana Hansikova
Publikováno v:
Disease Models & Mechanisms, Vol 12, Iss 7 (2019)
Skeletal muscle wasting and atrophy is one of the more severe clinical impairments resulting from the progression of Huntington's disease (HD). Mitochondrial dysfunction may play a significant role in the etiology of HD, but the specific condition of
Externí odkaz:
https://doaj.org/article/5073ee3b93504012b236b580befd2a10
Autor:
Tereza Rákosníková, Silvie Kelifová, Hana Štufková, Kateřina Lokvencová, Petra Lišková, Bohdan Kousal, Tomáš Honzík, Hana Hansíková, Václav Martínek, Markéta Tesařová
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Leber hereditary optic neuropathy is a primary mitochondrial disease characterized by acute visual loss due to the degeneration of retinal ganglion cells. In this study, we describe a patient carrying a rare missense heteroplasmic variant in MT-ND1,
Externí odkaz:
https://doaj.org/article/12ee8ca3d0004c67b8c245a36ed355c8
Autor:
Tereza Daňhelovská, Lucie Zdražilová, Hana Štufková, Marie Vanišová, Nikol Volfová, Jana Křížová, Ondřej Kuda, Jana Sládková, Markéta Tesařová
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 14, p 7270 (2021)
The Acyl-CoA-binding domain-containing protein (ACBD3) plays multiple roles across the cell. Although generally associated with the Golgi apparatus, it operates also in mitochondria. In steroidogenic cells, ACBD3 is an important part of a multiprotei
Externí odkaz:
https://doaj.org/article/ca6e431bea6f4db38cc1eb29d127cd15
Autor:
Georgina Askeland, Marie Rodinova, Hana Štufková, Zaneta Dosoudilova, Monika Baxa, Petra Smatlikova, Bozena Bohuslavova, Jiri Klempir, The Duong Nguyen, Anna Kuśnierczyk, Magnar Bjørås, Arne Klungland, Hana Hansikova, Zdenka Ellederova, Lars Eide
Publikováno v:
Disease Models & Mechanisms, Vol 11, Iss 10 (2018)
Huntington's disease (HD) is a monogenic, progressive, neurodegenerative disorder with currently no available treatment. The Libechov transgenic minipig model for HD (TgHD) displays neuroanatomical similarities to humans and exhibits slow disease pro
Externí odkaz:
https://doaj.org/article/b9a95129a92d463688eac08c5693d4fd
Autor:
Hana Štufková, Hana Kolářová, Kateřina Lokvencová, Tomáš Honzík, Jiří Zeman, Hana Hansíková, Markéta Tesařová
Publikováno v:
Genes; Volume 13; Issue 7; Pages: 1245
In this study, we report on a novel heteroplasmic pathogenic variant in mitochondrial DNA (mtDNA). The studied patient had myoclonus, epilepsy, muscle weakness, and hearing impairment and harbored a heteroplasmic m.8315A>C variant in the MTTK gene wi
Autor:
Hana, Štufková, Hana, Kolářová, Kateřina, Lokvencová, Tomáš, Honzík, Jiří, Zeman, Hana, Hansíková, Markéta, Tesařová
Publikováno v:
Genes. 13(7)
In this study, we report on a novel heteroplasmic pathogenic variant in mitochondrial DNA (mtDNA). The studied patient had myoclonus, epilepsy, muscle weakness, and hearing impairment and harbored a heteroplasmic m.8315Agt;C variant in the
Autor:
Martina Skopkova, Hana Stufkova, Vibhuti Rambani, Viktor Stranecky, Katarina Brennerova, Miriam Kolnikova, Michaela Pietrzykova, Miloslav Karhanek, Lenka Noskova, Marketa Tesarova, Hana Hansikova, Daniela Gasperikova
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-12 (2023)
Abstract Background Pathogenic variants in the ATAD3A gene lead to a heterogenous clinical picture and severity ranging from recessive neonatal-lethal pontocerebellar hypoplasia through milder dominant Harel-Yoon syndrome up to, again, neonatal-letha
Externí odkaz:
https://doaj.org/article/c27a06cd61034359a5ceaf3ef16fd41c