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References
Georget M, Lejeune E, Buratti J, Servant E, le Guern E, Heron D, et al. Loss of function of ADNP by an intragenic inversion. European journal of human genetics: EJHG. 2023. Available from: http://www.ncbi.nlm.nih.gov/pubmed/36828924.
Zamostiano R, Pinhasov A, Gelber E, Steingart RA, Seroussi E, Giladi E, et al. Cloning and characterization of the human activity-dependent neuroprotective protein. J Biol Chem. 2001;276:708–14. http://www.ncbi.nlm.nih.gov/pubmed/11013255.
Bassan M, Zamostiano R, Davidson A, Pinhasov A, Giladi E, Perl O, et al. Complete sequence of a novel protein containing a femtomolar-activity-dependent neuroprotective peptide. J Neurochem. 1999;72:1283–93. http://www.ncbi.nlm.nih.gov/pubmed/10037502.
Gozes I, Shazman S A novel davunetide (NAPVSIPQQ to NAPVSIPQE) point mutation in activity-dependent neuroprotective protein (ADNP) causes a mild developmental syndrome. Eur J Neurosci. 2023. Available from: http://www.ncbi.nlm.nih.gov/pubmed/36669790.
Saeliw T, Permpoon T, Iadsee N, Tencomnao T, Hu VW, Sarachana T, et al. LINE-1 and Alu methylation signatures in autism spectrum disorder and their associations with the expression of autism-related genes. Sci Rep. 2022;12:13970. http://www.ncbi.nlm.nih.gov/pubmed/35978033.
Ivashko-Pachima Y, Hadar A, Grigg I, Korenkova V, Kapitansky O, Karmon G, et al. Discovery of autism/intellectual disability somatic mutations in Alzheimer’s brains: mutated ADNP cytoskeletal impairments and repair as a case study. Mol Psychiatry. 2021;26:1619–33. http://www.ncbi.nlm.nih.gov/pubmed/31664177.
Ji N, Wu CG, Wang XD, Song ZX, Wu PY, Liu X, et al. Anti-aging effects of Alu antisense RNA on human fibroblast senescence through the MEK-ERK pathway mediated by KIF15. Curr Med Sci. 2023;43:35–47. http://www.ncbi.nlm.nih.gov/pubmed/36808398.
Ivashko-Pachima Y, Ganaiem M, Ben-Horin-Hazak I, Lobyntseva A, Bellaiche N, Fischer I, et al. SH3- and actin-binding domains connect ADNP and SHANK3, revealing a fundamental shared mechanism underlying autism. Mol Psychiatry. 2022;27:3316–27. http://www.ncbi.nlm.nih.gov/pubmed/35538192.
Karmon G, Sragovich S, Hacohen-Kleiman G, Ben-Horin-Hazak I, Kasparek P, Schuster B, et al. Novel ADNP syndrome mice reveal dramatic sex-specific peripheral gene expression with brain synaptic and Tau pathologies. Biol Psychiatry. 2022;92:81–95. http://www.ncbi.nlm.nih.gov/pubmed/34865853.
Hacohen-Kleiman G, Sragovich S, Karmon G, Gao AYL, Grigg I, Pasmanik-Chor M, et al. Activity-dependent neuroprotective protein deficiency models synaptic and developmental phenotypes of autism-like syndrome. J Clin Investig. 2018;128:4956–69. http://www.ncbi.nlm.nih.gov/pubmed/30106381.
Funding
This work was partially supported by grants to IG from the European Research Area Network (ERA-NET) Neuron ADNPinMED, Drs. Ronith and Armand Stemmer (French Friends of Tel Aviv University), Holly and Jonathan Strelzik (American Friends of Tel Aviv University) and Anne and Alex Cohen (Canadian Friends of Tel Aviv University). IG is Director of the Elton Laboratory for Molecular Neuroendocrinology and the former first incumbent of the Lily and Avraham Gildor Chair for the Investigation of Growth Factors.
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IG conceptualized and wrote this commentary.
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The diagnostic use of ADNP levels and the clinical use of davunetide are under patent protection (IG, inventor).
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Gozes, I. A novel genomic mutation in ADNP leading to intellectual disability. Eur J Hum Genet 31, 851–852 (2023). https://doi.org/10.1038/s41431-023-01387-9
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DOI: https://doi.org/10.1038/s41431-023-01387-9