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Page 1
AUTS2 Syndrome: Molecular Mechanisms and Model Systems.
Biel A, Castanza AS, Rutherford R, Fair SR, Chifamba L, Wester JC, Hester ME, Hevner RF. Biel A, et al. Front Mol Neurosci. 2022 Mar 31;15:858582. doi: 10.3389/fnmol.2022.858582. eCollection 2022. Front Mol Neurosci. 2022. PMID: 35431798 Free PMC article. Review.
Structurally, AUTS2 contains the putative "AUTS2 domain" (200 aa) conserved among AUTS2 and its ohnologs, fibrosin, and fibrosin-like-1. ...Emerging technologies for analysis of human cerebral organoids will be increasingly useful for understanding mechanisms …
Structurally, AUTS2 contains the putative "AUTS2 domain" (200 aa) conserved among AUTS2 and its ohnologs, fibrosin, and …
AUTS2 Gene: Keys to Understanding the Pathogenesis of Neurodevelopmental Disorders.
Hori K, Shimaoka K, Hoshino M. Hori K, et al. Cells. 2021 Dec 21;11(1):11. doi: 10.3390/cells11010011. Cells. 2021. PMID: 35011572 Free PMC article. Review.
Postnatally, AUTS2 regulates the number of excitatory synapses to maintain the balance between excitation and inhibition in neural circuits. In this review, we summarize the knowledge regarding AUTS2, including its molecular and cellular functions in neurodevelopmen …
Postnatally, AUTS2 regulates the number of excitatory synapses to maintain the balance between excitation and inhibition in neural ci …
AUTS2-related syndrome: Insights from a large European cohort.
Loberti L, Adamo L, Antolini E, Casamassima G, Destrèe A, Brunetti-Pierri N, Genevieve D, Christophe P, Coubes C, Van Esch H, Herget T, Kortüm F, Lisfeld J, Möllring AC, Zenker M, Levy J, Perrin L, Tabet AC, Maruani A, Sorlin A, Stieber D, Herissant L, Dahan K, Sinibaldi L, Capolino R, Dentici ML, Dallapiccola B, Novelli A, Garavelli L, Caraffi SG, Piatelli G, Valenzuela I, Digilio MC, Caumes R, Knopp C, Chwiałkowska K, Jezela-Stanek A, Kwasniewski M, Korotko U, Gorzałczyńska E, Canitano R, Grosso S, Rahikkala E, Mattern L, Elbracht M, Zuffardi O, Caputo V, Toschi B, Beunders G, Leeuwen L, Elting MW, van der Laan L, Broekema MF, Groffen AJ, van de Kamp JM, van Haelst MM, Alders M, Mauro SP, De Razza F, Varvara D, Kick J, Gaspar H, Braun D, Lausberg E, Maier A, Ruault V, Genesio R, Tartaglia M, Tita R, Bruttini M, Longo I, Baldassarri M, Mencarelli MA, Renieri A, Pinto AM. Loberti L, et al. Genet Med. 2025 Jun;27(6):101375. doi: 10.1016/j.gim.2025.101375. Epub 2025 Feb 12. Genet Med. 2025. PMID: 39953909 Free article.
PURPOSE: AUTS2-related syndrome is characterized by developmental delay, autism spectrum disorder, and intellectual disability. ...Independent of the underlying defect at the AUTS2 locus, we observed that autistic behavior, hyperactivity, learning difficulties, and …
PURPOSE: AUTS2-related syndrome is characterized by developmental delay, autism spectrum disorder, and intellectual disability. ...In …
Neuronal Migration and AUTS2 Syndrome.
Hori K, Hoshino M. Hori K, et al. Brain Sci. 2017 May 14;7(5):54. doi: 10.3390/brainsci7050054. Brain Sci. 2017. PMID: 28505103 Free PMC article. Review.
Interestingly, the AUTS2 protein has dual functions: Cytoplasmic AUTS2 regulates actin cytoskeleton to control neuronal migration and neurite extension, while nuclear AUTS2 controls transcription of various genes as a component of the polycomb complex 1 (PRC1 …
Interestingly, the AUTS2 protein has dual functions: Cytoplasmic AUTS2 regulates actin cytoskeleton to control neuronal migrat …
AUTS2 isoforms control neuronal differentiation.
Monderer-Rothkoff G, Tal N, Risman M, Shani O, Nissim-Rafinia M, Malki-Feldman L, Medvedeva V, Groszer M, Meshorer E, Shifman S. Monderer-Rothkoff G, et al. Mol Psychiatry. 2021 Feb;26(2):666-681. doi: 10.1038/s41380-019-0409-1. Epub 2019 Apr 5. Mol Psychiatry. 2021. PMID: 30953002
Mutations in AUTS2 are associated with autism, intellectual disability, and microcephaly. AUTS2 is expressed in the brain and interacts with polycomb proteins, yet it is still unclear how mutations in AUTS2 lead to neurodevelopmental phenotypes. ...The expres …
Mutations in AUTS2 are associated with autism, intellectual disability, and microcephaly. AUTS2 is expressed in the brain and …
Auts2 regulated autism-like behavior, glucose metabolism and oxidative stress in mice.
Liu M, Chen Y, Sun M, Du Y, Bai Y, Lei G, Zhang C, Zhang M, Zhang Y, Xi C, Ma Y, Wang G. Liu M, et al. Exp Neurol. 2023 Mar;361:114298. doi: 10.1016/j.expneurol.2022.114298. Epub 2022 Dec 13. Exp Neurol. 2023. PMID: 36525998
Here, we generated Auts2(flox/flox); Emx1(Cre+) conditional knockout mice with Auts2 deletion specifically in Exm1-positive neurons in the brain (Auts2-cKO mice) to evaluate the effects of Auts2 knockdown on social behaviors and metabolic pathways. ... …
Here, we generated Auts2(flox/flox); Emx1(Cre+) conditional knockout mice with Auts2 deletion specifically in Exm1-positive ne …
Cerebral organoids containing an AUTS2 missense variant model microcephaly.
Fair SR, Schwind W, Julian DL, Biel A, Guo G, Rutherford R, Ramadesikan S, Westfall J, Miller KE, Kararoudi MN, Hickey SE, Mosher TM, McBride KL, Neinast R, Fitch J, Lee DA, White P, Wilson RK, Bedrosian TA, Koboldt DC, Hester ME. Fair SR, et al. Brain. 2023 Jan 5;146(1):387-404. doi: 10.1093/brain/awac244. Brain. 2023. PMID: 35802027 Free PMC article.
Variants in the AUTS2 gene are associated with a broad spectrum of neurological conditions characterized by intellectual disability, microcephaly, and congenital brain malformations. ...Single-cell RNA sequencing revealed a marked reduction of G1/S transition gene expressi …
Variants in the AUTS2 gene are associated with a broad spectrum of neurological conditions characterized by intellectual disability, …
AUTS2 disruption causes neuronal differentiation defects in human cerebral organoids through hyperactivation of the WNT/beta-catenin pathway.
Geng Z, Tai YT, Wang Q, Gao Z. Geng Z, et al. Sci Rep. 2024 Aug 22;14(1):19522. doi: 10.1038/s41598-024-69912-4. Sci Rep. 2024. PMID: 39174599 Free PMC article.
The role of AUTS2 in neurodevelopment has been investigated using animal and embryonic stem cell models. ...Intriguingly, we found that AUTS2 negatively regulates the WNT/beta-catenin signaling pathway, evidenced by its overactivation in AUTS2-deficient cereb …
The role of AUTS2 in neurodevelopment has been investigated using animal and embryonic stem cell models. ...Intriguingly, we found th …
AUTS2 Regulates RNA Metabolism and Dentate Gyrus Development in Mice.
Castanza AS, Ramirez S, Tripathi PP, Daza RAM, Kalume FK, Ramirez JM, Hevner RF. Castanza AS, et al. Cereb Cortex. 2021 Aug 26;31(10):4808-4824. doi: 10.1093/cercor/bhab124. Cereb Cortex. 2021. PMID: 34013328 Free PMC article.
Although it is known that this unique gene is highly expressed in developing cerebral cortex, the molecular and developmental functions of AUTS2 protein remain unclear. Using proteomics methods to identify AUTS2 binding partners in neonatal mouse cerebral cortex, we …
Although it is known that this unique gene is highly expressed in developing cerebral cortex, the molecular and developmental functions of …
AUTS2 Governs Cerebellar Development, Purkinje Cell Maturation, Motor Function and Social Communication.
Yamashiro K, Hori K, Lai ESK, Aoki R, Shimaoka K, Arimura N, Egusa SF, Sakamoto A, Abe M, Sakimura K, Watanabe T, Uesaka N, Kano M, Hoshino M. Yamashiro K, et al. iScience. 2020 Nov 18;23(12):101820. doi: 10.1016/j.isci.2020.101820. eCollection 2020 Dec 18. iScience. 2020. PMID: 33305180 Free PMC article.
Because AUTS2 is also expressed in the cerebellum where defects have been linked to ASDs, we investigated AUTS2 functions in the cerebellum. ...Auts2 cKO and knock-down experiments implicated AUTS2 participation in elimination and translocation of clim …
Because AUTS2 is also expressed in the cerebellum where defects have been linked to ASDs, we investigated AUTS2 functions in t …
223 results