Defects of centriolar HYLS1 protein: in vivo outcomes in development and disease
Description of the granted funding
Single amino acid substitution in HYLS1 leads to hydroletalus syndrome, which is part of the Finnish Disease Heritage. The disease belongs to ciliopathies, and it causes serious defects during the development of fetus and leads to death before, or shortly after birth. In this study, we reveal the essential role of HYLS1 for the normal development of the fetus and its central nervous system, as well as its connection with metabolism. In addition, we investigate the tissue and cellular disease mechanisms caused by HYLS1 variants. This research increases our understanding of the molecular mechanisms important for fetal development and function.
Show moreStarting year
2025
End year
2029
Granted funding
Funder
Research Council of Finland
Funding instrument
Academy projects
Decision maker
Scientific Council for Biosciences, Health and the Environment
16.06.2025
16.06.2025
Other information
Funding decision number
370349
Fields of science
Biochemistry, cell and molecular biology
Research fields
Solu- ja molekyylibiologia