Antonia Wiegering

This study shows that TMEM67 is essential for proper dorsal spinal cord patterning in human organoids, with loss of TMEM67 disrupting interneuron specification and altering BMP4 signaling.

The paper shows that primary cilia regulate programmed cell death by controlling the proteasomal degradation of MOAP1 through ciliopathy proteins like RPGRIP1L, TCTN1, and CEP290.

This study shows that ciliary dysfunction in human cerebellar organoids leads to overactivation of FGF/MAPK signaling, impairing neurogenesis and increasing progenitor proliferation.

This study compares the role of RPGRIP1L in human and mouse neural progenitor fate specification, finding distinct effects on motoneuron identity and SHH signaling.

The paper shows that a gain-of-function mutation in Gli3 causes ventricular septal defects by impairing PDGFR signaling, suggesting potential therapeutic targets.