STOP Codon Mutations at Sites of Natural Caspase Cleavage Are Implicated in Autism and Alzheimer’s Disease: The Case of ADNP
Author:
Publisher
Frontiers Media SA
Subject
Endocrinology, Diabetes and Metabolism
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1. Tracing the invisible mutant ADNP protein in Helsmoortel-Van der Aa syndrome patients;Scientific Reports;2024-06-26
2. ADNP dysregulates methylation and mitochondrial gene expression in the cerebellum of a Helsmoortel–Van der Aa syndrome autopsy case;Acta Neuropathologica Communications;2024-04-18
3. Longitudinal Genotype-Phenotype (Vineland Questionnaire) Characterization of 15 ADNP Syndrome Cases Highlights Mutated Protein Length and Structural Characteristics Correlation with Communicative Abilities Accentuated in Males;Journal of Molecular Neuroscience;2024-01-29
4. Tracing the Invisible Mutant ADNP protein in Helsmoortel- Van der Aa Syndrome patients;2023-12-19
5. Neuroprotective effect of the PACAP-ADNP axis on SOD1G93A mutant motor neuron death induced by trophic factors deprivation;Neuropeptides;2023-12
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