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May 23, 2024
Researchers Tracking Down Rare Hereditary Diseases
Our PhD student Ainara Claveras and our faculty member Gerhard Hummer contributed to revealing the dynamic structure of FLVCR proteins and their function in nutrient transport in our cells.

It is known that malfunctions of the proteins FLVCR1 and FLVCR2 lead to rare hereditary diseases in humans that cause motor, sensory and neurological disorders. However, the biochemical mechanisms behind this and the physiological functions of the FLVCR proteins have been unclear to date. An interdisciplinary team of researchers from Frankfurt am Main, Singapore and the USA has now deciphered the FLVCR proteins’ 3D structures and their cellular functions. The researchers have shown that the proteins transport the cellular building blocks choline and ethanolamine. Their findings contribute significantly to understanding the pathogenesis of rare diseases and developing new therapies. more

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