Rebeka Butkovič

Identification of a RAB32-LRMDA-Commander membrane trafficking complex reveals the molecular mechanism of human oculocutaneous albinism type 7

This study identifies the RAB32-LRMDA-Commander complex and shows its role in melanosome biogenesis and pigmentation, revealing the mechanism of oculocutaneous albinism type 7.

Identification of a VPS29 isoform with restricted association to Retriever and Retromer accessory proteins through auto-inhibition.

The paper identifies a new VPS29 isoform, VPS29C, which exhibits auto-inhibition limiting its association with Retriever and Retromer accessory proteins, revealing new complexity in Retromer function.

The congenital multiple organ malformation syndrome, Ritscher-Schinzel syndrome is an endosomal recyclinopathy

This study identifies RSS as a recyclinopathy caused by dysfunction in the Commander endosomal recycling pathway, linking it to multiple tissue malformations.