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Page 1
De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay.
Vissers LELM, Kalvakuri S, de Boer E, Geuer S, Oud M, van Outersterp I, Kwint M, Witmond M, Kersten S, Polla DL, Weijers D, Begtrup A, McWalter K, Ruiz A, Gabau E, Morton JEV, Griffith C, Weiss K, Gamble C, Bartley J, Vernon HJ, Brunet K, Ruivenkamp C, Kant SG, Kruszka P, Larson A, Afenjar A, Billette de Villemeur T, Nugent K; DDD Study; Raymond FL, Venselaar H, Demurger F, Soler-Alfonso C, Li D, Bhoj E, Hayes I, Hamilton NP, Ahmad A, Fisher R, van den Born M, Willems M, Sorlin A, Delanne J, Moutton S, Christophe P, Mau-Them FT, Vitobello A, Goel H, Massingham L, Phornphutkul C, Schwab J, Keren B, Charles P, Vreeburg M, De Simone L, Hoganson G, Iascone M, Milani D, Evenepoel L, Revencu N, Ward DI, Burns K, Krantz I, Raible SE, Murrell JR, Wood K, Cho MT, van Bokhoven H, Muenke M, Kleefstra T, Bodmer R, de Brouwer APM. Vissers LELM, et al. Am J Hum Genet. 2020 Jul 2;107(1):164-172. doi: 10.1016/j.ajhg.2020.05.017. Epub 2020 Jun 17. Am J Hum Genet. 2020. PMID: 32553196 Free PMC article.
Furthermore, the genetic interaction with autism-spectrum genes, such as ASH1L, DYRK1A, MED13, and SHANK3, was impaired in our Drosophila models. Molecular characterization of CNOT1 variants revealed normal CNOT1 expression levels, with both mutant and wild-type alleles ex …
Furthermore, the genetic interaction with autism-spectrum genes, such as ASH1L, DYRK1A, MED13, and SHANK3, was impaired in our Drosop …
Discovery of first-in-class inhibitors of ASH1L histone methyltransferase with anti-leukemic activity.
Rogawski DS, Deng J, Li H, Miao H, Borkin D, Purohit T, Song J, Chase J, Li S, Ndoj J, Klossowski S, Kim E, Mao F, Zhou B, Ropa J, Krotoska MZ, Jin Z, Ernst P, Feng X, Huang G, Nishioka K, Kelly S, He M, Wen B, Sun D, Muntean A, Dou Y, Maillard I, Cierpicki T, Grembecka J. Rogawski DS, et al. Nat Commun. 2021 May 14;12(1):2792. doi: 10.1038/s41467-021-23152-6. Nat Commun. 2021. PMID: 33990599 Free PMC article.
While ASH1L represents an attractive drug target, developing ASH1L inhibitors is challenging, as the catalytic SET domain adapts an inactive conformation with autoinhibitory loop blocking the access to the active site. Here, by applying fragment-based screening foll …
While ASH1L represents an attractive drug target, developing ASH1L inhibitors is challenging, as the catalytic SET domain adap …
Novel role of ASH1L histone methyltransferase in anaplastic thyroid carcinoma.
Xu B, Qin T, Yu J, Giordano TJ, Sartor MA, Koenig RJ. Xu B, et al. J Biol Chem. 2020 Jun 26;295(26):8834-8845. doi: 10.1074/jbc.RA120.013530. Epub 2020 May 12. J Biol Chem. 2020. PMID: 32398261 Free PMC article.
The genetic and epigenetic changes that underlie this malignancy are incompletely understood. We found that ASH1-like histone lysine methyltransferase (ASH1L) is overexpressed in ATC relative to the much less aggressive and more common di …
The genetic and epigenetic changes that underlie this malignancy are incompletely understood. We found that ASH1-like histo …
The ASH1L-AS1-ASH1L axis controls NME1-mediated activation of the RAS signaling in gastric cancer.
Xie M, Zhang L, Han L, Huang L, Huang Y, Yang M, Zhang N. Xie M, et al. Oncogene. 2023 Nov;42(46):3435-3445. doi: 10.1038/s41388-023-02855-8. Epub 2023 Oct 7. Oncogene. 2023. PMID: 37805663
In line with this, ASH1L and ASH1L-AS1 are functionally important in promoting GC disease progression. LncRNA ASH1L-AS1 up-regulates ASH1L transcription, increases histone methyltransferase ASH1L expression and elevates genome-wide H3K4me3 modif …
In line with this, ASH1L and ASH1L-AS1 are functionally important in promoting GC disease progression. LncRNA ASH1L-AS1 …
Structural and functional specificity of H3K36 methylation.
Lam UTF, Tan BKY, Poh JJX, Chen ES. Lam UTF, et al. Epigenetics Chromatin. 2022 May 18;15(1):17. doi: 10.1186/s13072-022-00446-7. Epigenetics Chromatin. 2022. PMID: 35581654 Free PMC article. Review.
The methylation of histone H3 at lysine 36 (H3K36me) is essential for maintaining genomic stability. Indeed, this methylation mark is essential for proper transcription, recombination, and DNA damage response. ...
The methylation of histone H3 at lysine 36 (H3K36me) is essential for maintaining genomic stability. Indeed, this methylation mark is …
Deficiency of autism risk factor ASH1L in prefrontal cortex induces epigenetic aberrations and seizures.
Qin L, Williams JB, Tan T, Liu T, Cao Q, Ma K, Yan Z. Qin L, et al. Nat Commun. 2021 Nov 15;12(1):6589. doi: 10.1038/s41467-021-26972-8. Nat Commun. 2021. PMID: 34782621 Free PMC article.
ASH1L, a histone methyltransferase, is identified as a top-ranking risk factor for autism spectrum disorder (ASD), however, little is known about the biological mechanisms underlying the link of ASH1L haploinsufficiency to ASD. ...These results have revealed the cri …
ASH1L, a histone methyltransferase, is identified as a top-ranking risk factor for autism spectrum disorder (ASD), however, little is …
Histone H3.3 K27M and K36M mutations de-repress transposable elements through perturbation of antagonistic chromatin marks.
Chaouch A, Berlandi J, Chen CCL, Frey F, Badini S, Harutyunyan AS, Chen X, Krug B, Hébert S, Jeibmann A, Lu C, Kleinman CL, Hasselblatt M, Lasko P, Shirinian M, Jabado N. Chaouch A, et al. Mol Cell. 2021 Dec 2;81(23):4876-4890.e7. doi: 10.1016/j.molcel.2021.10.008. Epub 2021 Nov 4. Mol Cell. 2021. PMID: 34739871 Free PMC article.
Histone H3.3 lysine-to-methionine substitutions K27M and K36M impair the deposition of opposing chromatin marks, H3K27me3/me2 and H3K36me3/me2. ...Depletion of H3K36me2 methyltransferase ash1 in H3.3K27M, and of PRC2 component E(z) in H3.3K36M, restores the expressi …
Histone H3.3 lysine-to-methionine substitutions K27M and K36M impair the deposition of opposing chromatin marks, H3K27me3/me2 and H3K …
Mutations in ASH1L confer susceptibility to Tourette syndrome.
Liu S, Tian M, He F, Li J, Xie H, Liu W, Zhang Y, Zhang R, Yi M, Che F, Ma X, Zheng Y, Deng H, Wang G, Chen L, Sun X, Xu Y, Wang J, Zang Y, Han M, Wang X, Guan H, Ge Y, Wu C, Wang H, Liang H, Li H, Ran N, Yang Z, Huang H, Wei Y, Zheng X, Sun X, Feng X, Zheng L, Zhu T, Luo W, Chen Q, Yan Y, Huang Z, Jing Z, Guo Y, Zhang X, Schaaf CP, Xing J, Wang C, Yu F, Guan JS. Liu S, et al. Mol Psychiatry. 2020 Feb;25(2):476-490. doi: 10.1038/s41380-019-0560-8. Epub 2019 Oct 31. Mol Psychiatry. 2020. PMID: 31673123
The point mutations in ASH1L cause defects in its enzymatic activity. Therefore, we established a transgenic mouse line and performed an array of anatomical, behavioral, and functional assays to investigate ASH1L function. ...Taken together, our results provide comp …
The point mutations in ASH1L cause defects in its enzymatic activity. Therefore, we established a transgenic mouse line and performed …
ASH1L mutation caused seizures and intellectual disability in twin sisters.
Liu H, Liu DT, Lan S, Yang Y, Huang J, Huang J, Fang L. Liu H, et al. J Clin Neurosci. 2021 Sep;91:69-74. doi: 10.1016/j.jocn.2021.06.038. Epub 2021 Jul 1. J Clin Neurosci. 2021. PMID: 34373061
ASH1L mutations have been identified with variable phenotypes, including intellectual disability, autism spectrum disorder (ASD), and multiple congenital anomalies (MCA). ...Whole-exome sequencing of the family revealed a novel de novo heterozygous sequence variant, NM_018 …
ASH1L mutations have been identified with variable phenotypes, including intellectual disability, autism spectrum disorder (ASD), and …
Expansion of the Genotypic and Phenotypic Spectrum of ASH1L-Related Syndromic Neurodevelopmental Disorder.
Cordova I, Blesson A, Savatt JM, Sveden A, Mahida S, Hazlett H, Rooney Riggs E, Chopra M; Brain Gene Registry Subset of the ClinGen Intellectual Disability and Autism Gene Curation Expert Panel. Cordova I, et al. Genes (Basel). 2024 Mar 28;15(4):423. doi: 10.3390/genes15040423. Genes (Basel). 2024. PMID: 38674358 Free PMC article. Review.
Pathogenic ASH1L variants have been reported in probands with broad phenotypic presentations, including intellectual disability, autism spectrum disorder, attention deficit hyperactivity disorder, seizures, congenital anomalies, and other skeletal, muscular, and sleep diff …
Pathogenic ASH1L variants have been reported in probands with broad phenotypic presentations, including intellectual disability, auti …
37 results