Projects funded by the NCN
Analysis of the regulatory sequences in the SPAST gene and the influence of these sequences changes to transcriptional and post-transciptional regulation of the SPAST gene as a pathomechanism of hereditary spastic paraplegia type 4.
2014/15/N/NZ2/00395
Keywords:
SPAST spastin hereditary spastic paraplegia HSP transcriptional regulation transcriptional factors microRNA miRNA
Descriptors:
- NZ2_1:
- NZ2_11:
- NZ2_12:
Panel:
NZ2 - Genetics, genomics: molecular genetics, genomics, proteomics, bioinformatics, systems biology, genetic epidemiology
Host institution :
Instytut Psychiatrii i Neurologii
woj. mazowieckie
Principal investigator (from the host institution):
Number of co-investigators in the project: 2
Call: PRELUDIUM 8 - announced on 2014-09-15
Amount awarded: 99 840 PLN
Project start date (Y-m-d): 2015-08-05
Project end date (Y-m-d): 2018-08-04
Project duration:: 36 months (the same as in the proposal)
Project status: Project settled
Information in the final report
- Publication in academic press/journals (1)
- SPAST Intragenic CNVs Lead to Hereditary Spastic Paraplegia via a Haploinsufficiency MechanismAuthors:Ewelina Elert-Dobkowska, Iwona Stepniak, Wiktoria Radziwonik-Fraczyk, Amir Jahic, Christian Beetz, Anna SulekAcademic press:International journal of molecular sciences (rok: 2024, tom: 25, strony: 45665), Wydawca: MDPIStatus:PublishedDOI:10.3390/ijms25095008 - link to the publication