Projects funded by the NCN
Nuclear genes involved in mitochondrial diseases caused by mitochondrial DNA instability
2014/15/B/NZ5/00434
Keywords:
mitochondrial diseases mitochondrial DNA stability,whole exome sequencing
Descriptors:
- NZ5_5: Diagnostics in human diseases
- NZ2_11: Genetic epidemiology
- NZ5_1: Etiology of human diseases
Panel:
NZ5 - Human and animal noninfectious diseases: etiology, mechanisms, diagnosis and treatment of diseases, poisonings and injuries (without neurological diseases)
Host institution :
Uniwersytet Warszawski, Wydział Biologii
woj. mazowieckie
Principal investigator (from the host institution):
Number of co-investigators in the project: 6
Call: OPUS 8 - announced on 2014-09-15
Amount awarded: 887 860 PLN
Project start date (Y-m-d): 2015-07-09
Project end date (Y-m-d): 2020-07-08
Project duration:: 60 months (the same as in the proposal)
Project status: Project settled
Equipment purchased [PL]
- Dewar.
- Wytrząsarka płytek mikrotitracyjnych.
- Komputer z monitorem (10 000 PLN)
- Termocykler z pokrywą o regulowanej temperaturze z możliwością wyłączenia jej ogrzewania (30 000 PLN)
Information in the final report
- Publication in academic press/journals (3)
- Book publications / chapters in book publications (1)
- Nuclear genes involved in mitochondrial diseases caused by instability of mitochondrial DNAAuthors:Rusecka Joanna, Kaliszewska Magdalena, Bartnik Ewa, Tońska KatarzynaAcademic press:Journal of Applied Genetics (rok: 2018, tom: 59, strony: 43-57), Wydawca: SpringerStatus:PublishedDOI:10.1007/s13353-017-0424-3 - link to the publication
- Progressive External Ophthalmoplegia in Polish Patients—From Clinical Evaluation to Genetic ConfirmationAuthors:Biruta Kierdaszuk, Magdalena Kaliszewska, Joanna Rusecka, Joanna Kosińska, Ewa Bartnik, Katarzyna Tońska, Anna M. Kamińska, Anna Kostera-PruszczykAcademic press:Genes (Basel) (rok: 2021, tom: 12(1), strony: 54), Wydawca: MDPIStatus:PublishedDOI:10.3390/genes12010054 - link to the publication
- RNase H1 Regulates Mitochondrial Transcription and Translation via the Degradation of 7S RNAAuthors:Aurelio Reyes, Joanna Rusecka, Katarzyna Tońska, Massimo ZevianiAcademic press:Frontiers in Genetics (rok: 2020, tom: 10, strony: 1393), Wydawca: FrontiersStatus:PublishedDOI:10.3389/fgene.2019.01393 - link to the publication
- Instability of Human Mitochondrial DNA, Nuclear Genes and DiseasesAuthors:Katarzyna TońskaBook:Handbook of Mitochondrial Dysfunction (rok: 2019, tom: 1, strony: 39-54), Wydawca: CRC PressStatus:Published