Abstract
In the groundbreaking work by Karmon et al. (1) in the current issue of Biological Psychiatry, the authors developed a novel mouse model of activity-dependent neuroprotective protein (ADNP) syndrome. ADNP syndrome, also known as Helsmoortel–Van Der Aa syndrome, is a rare complex condition diagnosed in children exhibiting delayed development, autism spectrum disorder (ASD) traits, and intellectual disability. ADNP mutations are not limited to ASD; thus, the Gozes group discovered ADNP somatic mutations paralleling Alzheimer’s disease (AD) tauopathy (2), with ADNP playing pivotal roles in maintaining the DNA/chromatin structure (3) and function as well as regulating microtubule vitality (4).
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