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- Title
STOP Codon Mutations at Sites of Natural Caspase Cleavage Are Implicated in Autism and Alzheimer's Disease: The Case of ADNP.
- Authors
Gozes, Illana; Shazman, Shula
- Abstract
NAP enhances ADNP binding to microtubule end binding protein (EB1 and EB3) ([25]), in turn augmenting Tau microtubule interactions, protecting against tauopathy, even in the face of ADNP mutations, such as the prevalent mutation, p.Arg730* ([13]-[15]). Keywords: apoptosis; activity dependent neuroprotective protein (ADNP); caspase; mutations; autism spectrum disorder; Alzheimer's disease EN apoptosis activity dependent neuroprotective protein (ADNP) caspase mutations autism spectrum disorder Alzheimer's disease 1 5 5 03/28/22 20220323 NES 220323 Introduction Activity-dependent neuroprotective protein (ADNP) ([1], [2]) was originally discovered at the Gozes laboratory as a glial secreted protein, in the presence of the G-protein-coupled receptors (GPCR)-neuropeptide activator, vasoactive intestinal peptide (VIP) ([1]). Furthermore the recurrent somatic ADNP frameshift mutation p.Arg730Thrfs*4, which is one of the pathogenic mutations in ADNP that is correlated to aging/Alzheimer's disease, truncates ADNP length to a protein of 734aa ([13]) (Figure 1).
- Subjects
ALZHEIMER'S disease; CASPASES; PROTEIN precursors; PITUITARY adenylate cyclase activating polypeptide; PROPROTEIN convertases
- Publication
Frontiers in Endocrinology, 2022, Vol 13, p1
- ISSN
1664-2392
- Publication type
Article
- DOI
10.3389/fendo.2022.867442