Publications by authors named "Judith Halewa"
Article Synopsis
- The CRMP family proteins, particularly CRMP5/DPYSL5, are crucial for neuronal development, influencing dendrite structure and axonal pathfinding, and their function is linked to neurotrophic factors.
- Recent research identified mutations in the DPYSL5 gene in nine individuals with brain malformations and varying degrees of intellectual disability, with two specific mutations being the focus.
- The identified mutations disrupt the protein's ability to interact with key neuronal proteins, leading to impaired dendritic growth and contributing to abnormal brain development, highlighting DPYSL5's role in neurodevelopmental disorders.
Article Synopsis
- * A study investigated 13 missense variants of PTCHD1, including both previously known and novel mutations found in male patients with intellectual disability (ID) and autism spectrum disorder (ASD).
- * Functional tests revealed that six of these variants disrupt PTCHD1 protein levels and cause retention in the endoplasmic reticulum, indicating they may be pathogenic and supporting PTCHD1's role in ID and ASD.
