We welcome the reporting of any newly identified patient with a FEM1C mutation—whether at the Asp126 residue or elsewhere—to Professor Wojciech Pokrzywa (https://pokrzywalab.com), who leads ongoing research initiatives on FEM1C’s molecular mechanisms.
Current projects at Professor Pokrzywa’s laboratory include:
• Characterizing FEM1C substrates: Using proteomic and biochemical methods to identify and validate specific proteins targeted for degradation by FEM1C.
• Exploring targeted protein degradation approaches: Investigating whether altering FEM1C function or harnessing similar pathways might be translated into therapeutic strategies, particularly for individuals bearing pathogenic FEM1C variants.
Clinicians or researchers working with patients harboring FEM1C mutations are strongly encouraged to share their findings to advance our collective understanding and potentially develop novel treatment strategies.
FEM1C