PTCHD1 modulates cytoskeleton remodeling through regulation of Rac1-PAK signaling pathway, consistent with neurodevelopmental disorders phenotype
Dévina Ung, Sylviane Marouillat, Thibaut Laboute, Judith Halewa, Chloé Boisseau, Marie Vossels, Frédéric Laumonnier · FENS Forum 2024
Neurodevelopmental disorders (NDDs) are prevalent neurodevelopmental conditions which affected 3% of general population without effective treatment so far. Among the NDD candidate genes, mutations in PTCHD1 (Patched domain containing 1) gene have been described in male patients with X-linked Intellectual Disability (ID) and Autism Spectrum Disorders (ASD). The aim of the study is deciphering the molecular and cellular role of PTCHD1 in brain development and understanding its pathological impact leading to NDD.To dissect the molecular mechanisms allowing PTCHD1 receptor interactions at synapse,
ePoster · Neuroscience