Mitali Patel

Intracellular Trafficking SNARE Protein, Syntaxin-6, is a Modifier of Prion and Tau Pathogenesis in vivo and in Cellular Models

This study identifies syntaxin-6 as a modifier of prion and tau pathogenesis, showing it affects disease onset but not progression in experimental models.

TUBB4B variants specifically impact ciliary function, causing a ciliopathic spectrum

The paper identifies TUBB4B mutations causing distinct ciliopathic diseases by affecting microtubule dynamics and cilia formation in humans and mice.

C11orf70 mutations causing primary ciliary dyskinesia disrupt a conserved step in the intraflagellar transport-dependent assembly of multiple axonemal dyneins

This study identifies C11orf70 mutations as a cause of primary ciliary dyskinesia, showing they disrupt IFT-dependent dynein arm assembly and cilia motility.