Associated Papers
The ADNP-Mediated Transcriptome Response to Ketamine Impairs the Cytoskeletal Protein Axis.
D'Incal CP et al.
Journal of Molecular Neuroscience : Mn, 2025
Tracing the invisible mutant ADNP protein in Helsmoortel-Van der Aa syndrome patients.
D'Incal CP et al.
Scientific Reports, 2024
Extended phenotypic characterization of a novel Helsmoortel-van der Aa syndrome case series.
Pascolini G et al.
American Journal of Medical Genetics. Part A, 2024
ADNP dysregulates methylation and mitochondrial gene expression in the cerebellum of a Helsmoortel-Van der Aa syndrome autopsy case.
D'Incal C et al.
Acta Neuropathologica Communications, 2024
Clinical impact and in vitro characterization of ADNP variants in pediatric patients.
Ge C et al.
Molecular Autism, 2024
NAP (Davunetide): The Neuroprotective ADNP Drug Candidate Penetrates Cell Nuclei Explaining Pleiotropic Mechanisms.
Ganaiem M et al.
Cells, 2023
A novel davunetide (NAPVSIPQQ to NAPVSIPQE) point mutation in activity-dependent neuroprotective protein (ADNP) causes a mild developmental syndrome.
Gozes I et al.
The European Journal of Neuroscience, 2023
Chromatin remodeler Activity-Dependent Neuroprotective Protein (ADNP) contributes to syndromic autism.
D'Incal CP et al.
Clinical Epigenetics, 2023
Distinct Impairments Characterizing Different ADNP Mutants Reveal Aberrant Cytoplasmic-Nuclear Crosstalk.
Ganaiem M et al.
Cells, 2022
SH3- and actin-binding domains connect ADNP and SHANK3, revealing a fundamental shared mechanism underlying autism.
Ivashko-Pachima Y et al.
Molecular Psychiatry, 2022
Single-cell transcriptome identifies molecular subtype of autism spectrum disorder impacted by de novo loss-of-function variants regulating glial cells.
Nassir N et al.
Human Genomics, 2021
34802461 (PubMed )
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Tauopathy in the young autistic brain: novel biomarker and therapeutic target.
Grigg I et al.
Translational Psychiatry, 2020
Premature primary tooth eruption in cognitive/motor-delayed ADNP-mutated children.
Gozes I et al.
Translational Psychiatry, 2017
A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP.
Helsmoortel C et al.
Nature Genetics, 2014
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