Hans‐Jürgen Kreienkamp

This study identifies DHX30 as an R-loop helicase that resolves RNA:DNA hybrids, prevents replication stress, and maintains genome stability in human and zebrafish cells.

This study identifies an internal PDZ-binding motif in Densin-180 that promotes SHANK scaffold remodelling through activity-dependent interactions.

This study investigates how the SPN-Ank domain of Shank3 regulates its localization and function in postsynaptic sites, showing its role in synaptic signaling and implications for autism-related mutations.

The paper shows that a mutation in CASK's CaMK domain disrupts its regulation of Liprin-α phase separation, leading to neurodevelopmental disorder with microcephaly and pontocerebellar hypoplasia.

The paper identifies a SHANK3 missense mutation linked to ADHD-like phenotype and shows it disrupts protein interactions critical for neurodevelopmental function.

This study identifies 25 individuals with DHX30 mutations, showing two clinical subtypes based on variant type and severity of developmental and neurological symptoms.

This study shows two ASD-associated SHANK3 mutations cause structural changes and altered protein turnover at synapses.