Martina Huranová

This study examines how specific BBS1 mutations affect BBSome assembly and function in ciliary trafficking, revealing distinct defects linked to different BBS1 variants.

This study identifies KIF14 as a non-canonical kinesin-3 motor that regulates intraflagellar transport in primary cilia by interacting with its motor domain and C-terminal CC1 domain.

The paper investigates the role of BBS1 in suppressing mesenchymal cell identities in epithelial cells, showing clonal variability and dysregulation of EMT genes across tissues.

This study investigates immune and hematopoietic system alterations in Bardet-Biedl Syndrome patients and a mouse model, finding increased autoimmune disease incidence, elevated white blood cell counts, and B cell abnormalities.