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2021 13
2022 19
2023 15
2024 0

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Whole genome sequencing vs chromosomal microarray analysis in prenatal diagnosis.
Hu P, Zhang Q, Cheng Q, Luo C, Zhang C, Zhou R, Meng L, Huang M, Wang Y, Wang Y, Qiao F, Xu Z. Hu P, et al. Am J Obstet Gynecol. 2023 Sep;229(3):302.e1-302.e18. doi: 10.1016/j.ajog.2023.03.005. Epub 2023 Mar 11. Am J Obstet Gynecol. 2023. PMID: 36907537
In addition, 3 incidental findings were detected including an expansion of the trinucleotide repeat in ATXN3, a splice-sites variant in ATRX, and an ANXA11 missense mutation in a case of trisomy 21. ...
In addition, 3 incidental findings were detected including an expansion of the trinucleotide repeat in ATXN3, a splice-sites variant …
ATXN3 controls DNA replication and transcription by regulating chromatin structure.
Hernández-Carralero E, Cabrera E, Rodríguez-Torres G, Hernández-Reyes Y, Singh AN, Santa-María C, Fernández-Justel JM, Janssens RC, Marteijn JA, Evert BO, Mailand N, Gómez M, Ramadan K, Smits VAJ, Freire R. Hernández-Carralero E, et al. Nucleic Acids Res. 2023 Jun 23;51(11):5396-5413. doi: 10.1093/nar/gkad212. Nucleic Acids Res. 2023. PMID: 36971114 Free PMC article.
The deubiquitinating enzyme Ataxin-3 (ATXN3) contains a polyglutamine (PolyQ) region, the expansion of which causes spinocerebellar ataxia type-3 (SCA3). ...The absence of ATXN3 decreases the recruitment of endogenous HDAC3 to the chromatin, as well as …
The deubiquitinating enzyme Ataxin-3 (ATXN3) contains a polyglutamine (PolyQ) region, the expansion of which causes spi …
Orexin 2 receptor-selective agonist danavorexton improves narcolepsy phenotype in a mouse model and in human patients.
Evans R, Kimura H, Alexander R, Davies CH, Faessel H, Hartman DS, Ishikawa T, Ratti E, Shimizu K, Suzuki M, Tanaka S, Yukitake H, Dauvilliers Y, Mignot E. Evans R, et al. Proc Natl Acad Sci U S A. 2022 Aug 30;119(35):e2207531119. doi: 10.1073/pnas.2207531119. Epub 2022 Aug 22. Proc Natl Acad Sci U S A. 2022. PMID: 35994639 Free PMC article.
Following evaluation in mice, the effects of the orexin 2 receptor (OX2R)-selective agonist danavorexton were evaluated in single- and multiple-rising-dose studies in healthy adults, and in individuals with NT1 and NT2. In orexin/ataxin-3 narcolepsy mice, danavorext …
Following evaluation in mice, the effects of the orexin 2 receptor (OX2R)-selective agonist danavorexton were evaluated in single- and multi …
Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study.
Ibañez K, Polke J, Hagelstrom RT, Dolzhenko E, Pasko D, Thomas ERA, Daugherty LC, Kasperaviciute D, Smith KR; WGS for Neurological Diseases Group; Deans ZC, Hill S, Fowler T, Scott RH, Hardy J, Chinnery PF, Houlden H, Rendon A, Caulfield MJ, Eberle MA, Taft RJ, Tucci A; Genomics England Research Consortium. Ibañez K, et al. Lancet Neurol. 2022 Mar;21(3):234-245. doi: 10.1016/S1474-4422(21)00462-2. Lancet Neurol. 2022. PMID: 35182509 Free PMC article.
METHODS: We retrospectively assessed the diagnostic accuracy of whole genome sequencing to detect the most common repeat expansion loci associated with neurological outcomes (AR, ATN1, ATXN1, ATXN2, ATXN3, ATXN7, C9orf72, CACNA1A, DMPK, FMR1, FXN, HTT, and TBP) using sampl …
METHODS: We retrospectively assessed the diagnostic accuracy of whole genome sequencing to detect the most common repeat expansion loci asso …
Integrative transcriptomic analysis of the amyotrophic lateral sclerosis spinal cord implicates glial activation and suggests new risk genes.
Humphrey J, Venkatesh S, Hasan R, Herb JT, de Paiva Lopes K, Küçükali F, Byrska-Bishop M, Evani US, Narzisi G, Fagegaltier D; NYGC ALS Consortium; Sleegers K, Phatnani H, Knowles DA, Fratta P, Raj T. Humphrey J, et al. Nat Neurosci. 2023 Jan;26(1):150-162. doi: 10.1038/s41593-022-01205-3. Epub 2022 Dec 8. Nat Neurosci. 2023. PMID: 36482247
Finally, we outline how common genetic variants associated with splicing of C9orf72 act as proxies for the well-known repeat expansion, and we use the same mechanism to suggest ATXN3 as a putative risk gene....
Finally, we outline how common genetic variants associated with splicing of C9orf72 act as proxies for the well-known repeat expansion, and …
Alternative polyadenylation transcriptome-wide association study identifies APA-linked susceptibility genes in brain disorders.
Cui Y, Arnold FJ, Peng F, Wang D, Li JS, Michels S, Wagner EJ, La Spada AR, Li W. Cui Y, et al. Nat Commun. 2023 Feb 3;14(1):583. doi: 10.1038/s41467-023-36311-8. Nat Commun. 2023. PMID: 36737438 Free PMC article.
Among these 354 genes, ~57% are not significant in traditional expression- and splicing-TWAS studies, since APA may regulate the translation, localization and protein-protein interaction of the target genes independent of mRNA level expression or splicing. Furthermore, we discove …
Among these 354 genes, ~57% are not significant in traditional expression- and splicing-TWAS studies, since APA may regulate the translation …
The equilibrium of tumor suppression: DUBs as active regulators of PTEN.
Christine A, Park MK, Song SJ, Song MS. Christine A, et al. Exp Mol Med. 2022 Nov;54(11):1814-1821. doi: 10.1038/s12276-022-00887-w. Epub 2022 Nov 16. Exp Mol Med. 2022. PMID: 36385557 Free PMC article. Review.
While PTEN can be targeted by HECT-type E3 ubiquitin ligases for nuclear import and proteasomal degradation, studies have shown that several deubiquitinating enzymes, including HAUSP/USP7, USP10, USP11, USP13, OTUD3 and Ataxin-3, can remove ubiquitin from ubiquitina …
While PTEN can be targeted by HECT-type E3 ubiquitin ligases for nuclear import and proteasomal degradation, studies have shown that several …
Involvement of Ataxin-3 (ATXN3) in the malignant progression of pancreatic cancer via deubiquitinating HDAC6.
Wu X, Zhang X, Liu P, Wang Y. Wu X, et al. Pancreatology. 2023 Sep;23(6):630-641. doi: 10.1016/j.pan.2023.06.011. Epub 2023 Jul 7. Pancreatology. 2023. PMID: 37460341
BACKGROUND: Pancreatic cancer is a common digestive system cancer and one of the most lethal malignancies worldwide. Ataxin-3 (ATXN3) protein is a deubiquitinating enzyme implicated in the occurrence of diverse human cancers. ...The underlying mechanism of …
BACKGROUND: Pancreatic cancer is a common digestive system cancer and one of the most lethal malignancies worldwide. Ataxin-3 …
Allele-specific quantitation of ATXN3 and HTT transcripts in polyQ disease models.
Joachimiak P, Ciesiołka A, Kozłowska E, Świtoński PM, Figura G, Ciołak A, Adamek G, Surdyka M, Kalinowska-Pośka Ż, Figiel M, Caron NS, Hayden MR, Fiszer A. Joachimiak P, et al. BMC Biol. 2023 Feb 1;21(1):17. doi: 10.1186/s12915-023-01515-3. BMC Biol. 2023. PMID: 36726088 Free PMC article.
RESULTS: To precisely quantify expression in an allele-specific manner, we used SNP variants that are linked to either normal or CAG expanded alleles of the ataxin-3 (ATXN3) and huntingtin (HTT) genes in selected patient-derived cell lines. ...Additionally, w …
RESULTS: To precisely quantify expression in an allele-specific manner, we used SNP variants that are linked to either normal or CAG expande …
Mutant Ataxin-3-Containing Aggregates (MATAGGs) in Spinocerebellar Ataxia Type 3: Dynamics of the Disorder.
Raj K, Akundi RS. Raj K, et al. Mol Neurobiol. 2021 Jul;58(7):3095-3118. doi: 10.1007/s12035-021-02314-z. Epub 2021 Feb 24. Mol Neurobiol. 2021. PMID: 33629274 Review.
Spinocerebellar ataxia type 3 (SCA3) is the most common type of SCA worldwide caused by abnormal polyglutamine expansion in the coding region of the ataxin-3 gene. Ataxin-3 is a multi-faceted protein involved in various cellular processes such as deubi …
Spinocerebellar ataxia type 3 (SCA3) is the most common type of SCA worldwide caused by abnormal polyglutamine expansion in the coding regio …
40 results