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Introducing ADNP and SIRT1 as new partners regulating microtubules and histone methylation.
Hadar A, Kapitansky O, Ganaiem M, Sragovich S, Lobyntseva A, Giladi E, Yeheskel A, Avitan A, Vatine GD, Gurwitz D, Ivashko-Pachima Y, Gozes I. Hadar A, et al. Mol Psychiatry. 2021 Nov;26(11):6550-6561. doi: 10.1038/s41380-021-01143-9. Epub 2021 May 10. Mol Psychiatry. 2021. PMID: 33967268
As such, de novo mutations in ADNP lead to the autistic ADNP syndrome and somatic ADNP mutations may drive Alzheimer's disease (AD) tauopathy. ...
As such, de novo mutations in ADNP lead to the autistic ADNP syndrome and somatic ADNP mutations may drive Alzheimer's disease …
Generation of a human induced pluripotent stem cell line (FDIBSi001-A) from a patient with ADNP syndrome carrying ADNP mutation (c. 2059 T>C).
Mengnan W, Yan C, Qiong X, Man X. Mengnan W, et al. Stem Cell Res. 2024 Dec;81:103550. doi: 10.1016/j.scr.2024.103550. Epub 2024 Sep 11. Stem Cell Res. 2024. PMID: 39307104 Free article.
Mutations in ADNP gene is responsible for ADNP syndrome. A human iPSC line with a de novo heterozygous ADNP mutation (ADNP c. 2059 T>C) was generated from peripheral blood mononuclear cells of a patient with ADNP syndrome. ...This iPSC line provides …
Mutations in ADNP gene is responsible for ADNP syndrome. A human iPSC line with a de novo heterozygous ADNP mutation (ADNP c. …
Early behavioral and developmental interventions in ADNP-syndrome: A case report of SWI/SNF-related neurodevelopmental syndrome.
Shillington A, Pedapati E, Hopkin R, Suhrie K. Shillington A, et al. Mol Genet Genomic Med. 2020 Jun;8(6):e1230. doi: 10.1002/mgg3.1230. Epub 2020 Apr 10. Mol Genet Genomic Med. 2020. PMID: 32275126 Free PMC article.
Variants in the activity-dependent neuroprotector homeobox ADNP (OMIM #611386) gene may be one of the most common single-gene causes of syndromic ASD. Most patients diagnosed with ADNP syndrome have ASD as a comorbidity, and all patients have mild-to-severe intellec …
Variants in the activity-dependent neuroprotector homeobox ADNP (OMIM #611386) gene may be one of the most common single-gene causes of synd …
GENYOi004-A: An induced pluripotent stem cells (iPSCs) line generated from a patient with autism-related ADNP syndrome carrying a pTyr719* mutation.
Montes R, Mollinedo P, Perales S, Gonzalez-Lamuño D, Ramos-Mejía V, Fernandez-Luna JL, Real PJ. Montes R, et al. Stem Cell Res. 2019 May;37:101446. doi: 10.1016/j.scr.2019.101446. Epub 2019 Apr 22. Stem Cell Res. 2019. PMID: 31035039 Free article.
ADNP syndrome is an intellectual disability associated with Autism spectrum disorder caused by mutations in ADNP. We generated an iPSC line from an ADNP syndrome pediatric patient harboring the mutation p.Trp719* (GENYOi004-A). Peripheral blood mononuc …
ADNP syndrome is an intellectual disability associated with Autism spectrum disorder caused by mutations in ADNP. We generated …
The cytoplasmic localization of ADNP through 14-3-3 promotes sex-dependent neuronal morphogenesis, cortical connectivity, and calcium signaling.
Bennison SA, Blazejewski SM, Liu X, Hacohen-Kleiman G, Sragovich S, Zoidou S, Touloumi O, Grigoriadis N, Gozes I, Toyo-Oka K. Bennison SA, et al. Mol Psychiatry. 2023 May;28(5):1946-1959. doi: 10.1038/s41380-022-01939-3. Epub 2023 Jan 11. Mol Psychiatry. 2023. PMID: 36631597
Single gene mutations in activity-dependent neuroprotective protein (ADNP) are the most frequent among autism spectrum disorders (ASDs) leading to the ADNP syndrome. Previous studies showed that during neuritogenesis, Adnp localizes to the cytoplasm/neurites, and Ad …
Single gene mutations in activity-dependent neuroprotective protein (ADNP) are the most frequent among autism spectrum disorders (ASDs) lead …
SH3- and actin-binding domains connect ADNP and SHANK3, revealing a fundamental shared mechanism underlying autism.
Ivashko-Pachima Y, Ganaiem M, Ben-Horin-Hazak I, Lobyntseva A, Bellaiche N, Fischer I, Levy G, Sragovich S, Karmon G, Giladi E, Shazman S, Barak B, Gozes I. Ivashko-Pachima Y, et al. Mol Psychiatry. 2022 Aug;27(8):3316-3327. doi: 10.1038/s41380-022-01603-w. Epub 2022 May 10. Mol Psychiatry. 2022. PMID: 35538192
De novo heterozygous mutations in activity-dependent neuroprotective protein (ADNP) cause autistic ADNP syndrome. ADNP mutations impair microtubule (MT) function, essential for synaptic activity. ...
De novo heterozygous mutations in activity-dependent neuroprotective protein (ADNP) cause autistic ADNP syndrome. ADNP mutatio …
The autism-mutated ADNP plays a key role in stress response.
Sragovich S, Ziv Y, Vaisvaser S, Shomron N, Hendler T, Gozes I. Sragovich S, et al. Transl Psychiatry. 2019 Sep 18;9(1):235. doi: 10.1038/s41398-019-0569-4. Transl Psychiatry. 2019. PMID: 31534115 Free PMC article.
Activity-dependent neuroprotective protein (ADNP), discovered and first characterized in our laboratory (IG), is vital for mammalian brain formation and presents one of the leading genes mutated de novo causing an autistic syndrome, namely the ADNP syndrome. Further …
Activity-dependent neuroprotective protein (ADNP), discovered and first characterized in our laboratory (IG), is vital for mammalian brain f …
A heterozygous microdeletion of 20q13.13 encompassing ADNP gene in a child with Helsmoortel-van der Aa syndrome.
Huynh MT, Boudry-Labis E, Massard A, Thuillier C, Delobel B, Duban-Bedu B, Vincent-Delorme C. Huynh MT, et al. Eur J Hum Genet. 2018 Oct;26(10):1497-1501. doi: 10.1038/s41431-018-0165-8. Epub 2018 Jun 13. Eur J Hum Genet. 2018. PMID: 29899371 Free PMC article.
Helsmoortel-van der Aa (SWI/SNF autism-related or ADNP syndrome) is an autosomal dominant monogenic syndrome caused by de novo variants in the last exon of ADNP gene and no deletions have been documented to date. ...Taking into account the clinical phenotype of prev …
Helsmoortel-van der Aa (SWI/SNF autism-related or ADNP syndrome) is an autosomal dominant monogenic syndrome caused by de novo …
84 results