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.
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Starting year

2025

End year

2029

Granted funding

Reetta Hinttala Orcid -palvelun logo
600 000 €

Funder

Research Council of Finland

Funding instrument

Academy projects

Decision maker

Scientific Council for Biosciences, Health and the Environment
16.06.2025

Other information

Funding decision number

370349

Fields of science

Biochemistry, cell and molecular biology

Research fields

Solu- ja molekyylibiologia