PubMed (cited) for id: 609520

Year	Number of Results
2003	1
2005	1
2006	1
2007	2
2008	1
2009	3
2010	3
2011	2
2012	1
2018	1
2019	1
2021	1
2022	2
2024	0

1

DYT6 mutated THAP1 is a cell type dependent regulator of the SP1 family.

Cheng F, Zheng W, Barbuti PA, Bonsi P, Liu C, Casadei N, Ponterio G, Meringolo M, Admard J, Dording CM, Yu-Taeger L, Nguyen HP, Grundmann-Hauser K, Ott T, Houlden H, Pisani A, Krüger R, Riess O. Cheng F, et al. Brain. 2022 Nov 21;145(11):3968-3984. doi: 10.1093/brain/awac001. Brain. 2022. PMID: 35015830

2

A pathogenic DYT-THAP1 dystonia mutation causes hypomyelination and loss of YY1 binding.

Yellajoshyula D, Rogers AE, Kim AJ, Kim S, Pappas SS, Dauer WT. Yellajoshyula D, et al. Hum Mol Genet. 2022 Mar 31;31(7):1096-1104. doi: 10.1093/hmg/ddab310. Hum Mol Genet. 2022. PMID: 34686877 Free PMC article.

3

Dystonia-specific mutations in THAP1 alter transcription of genes associated with neurodevelopment and myelin.

Domingo A, Yadav R, Shah S, Hendriks WT, Erdin S, Gao D, O'Keefe K, Currall B, Gusella JF, Sharma N, Ozelius LJ, Ehrlich ME, Talkowski ME, Bragg DC. Domingo A, et al. Am J Hum Genet. 2021 Nov 4;108(11):2145-2158. doi: 10.1016/j.ajhg.2021.09.017. Epub 2021 Oct 20. Am J Hum Genet. 2021. PMID: 34672987 Free PMC article.

4

Loss of the dystonia gene Thap1 leads to transcriptional deficits that converge on common pathogenic pathways in dystonic syndromes.

Frederick NM, Shah PV, Didonna A, Langley MR, Kanthasamy AG, Opal P. Frederick NM, et al. Hum Mol Genet. 2019 Apr 15;28(8):1343-1356. doi: 10.1093/hmg/ddy433. Hum Mol Genet. 2019. PMID: 30590536 Free PMC article.

5

Mutations in THAP1/DYT6 reveal that diverse dystonia genes disrupt similar neuronal pathways and functions.

Zakirova Z, Fanutza T, Bonet J, Readhead B, Zhang W, Yi Z, Beauvais G, Zwaka TP, Ozelius LJ, Blitzer RD, Gonzalez-Alegre P, Ehrlich ME. Zakirova Z, et al. PLoS Genet. 2018 Jan 24;14(1):e1007169. doi: 10.1371/journal.pgen.1007169. eCollection 2018 Jan. PLoS Genet. 2018. PMID: 29364887 Free PMC article.

6

Identification and functional analysis of novel THAP1 mutations.

Lohmann K, Uflacker N, Erogullari A, Lohnau T, Winkler S, Dendorfer A, Schneider SA, Osmanovic A, Svetel M, Ferbert A, Zittel S, Kühn AA, Schmidt A, Altenmüller E, Münchau A, Kamm C, Wittstock M, Kupsch A, Moro E, Volkmann J, Kostic V, Kaiser FJ, Klein C, Brüggemann N. Lohmann K, et al. Eur J Hum Genet. 2012 Feb;20(2):171-5. doi: 10.1038/ejhg.2011.159. Epub 2011 Aug 17. Eur J Hum Genet. 2012. PMID: 21847143 Free PMC article.

7

DYT6 dystonia: review of the literature and creation of the UMD Locus-Specific Database (LSDB) for mutations in the THAP1 gene.

Blanchard A, Ea V, Roubertie A, Martin M, Coquart C, Claustres M, Béroud C, Collod-Béroud G. Blanchard A, et al. Hum Mutat. 2011 Nov;32(11):1213-24. doi: 10.1002/humu.21564. Epub 2011 Sep 15. Hum Mutat. 2011. PMID: 21793105 Free article. Review.

8

The dystonia gene DYT1 is repressed by the transcription factor THAP1 (DYT6).

Kaiser FJ, Osmanoric A, Rakovic A, Erogullari A, Uflacker N, Braunholz D, Lohnau T, Orolicki S, Albrecht M, Gillessen-Kaesbach G, Klein C, Lohmann K. Kaiser FJ, et al. Ann Neurol. 2010 Oct;68(4):554-9. doi: 10.1002/ana.22157. Ann Neurol. 2010. PMID: 20976771

9

THAP1 mutations (DYT6) are an additional cause of early-onset dystonia.

Houlden H, Schneider SA, Paudel R, Melchers A, Schwingenschuh P, Edwards M, Hardy J, Bhatia KP. Houlden H, et al. Neurology. 2010 Mar 9;74(10):846-50. doi: 10.1212/WNL.0b013e3181d5276d. Neurology. 2010. PMID: 20211909 Free PMC article.

10

Novel THAP1 sequence variants in primary dystonia.

Xiao J, Zhao Y, Bastian RW, Perlmutter JS, Racette BA, Tabbal SD, Karimi M, Paniello RC, Wszolek ZK, Uitti RJ, Van Gerpen JA, Simon DK, Tarsy D, Hedera P, Truong DD, Frei KP, Dev Batish S, Blitzer A, Pfeiffer RF, Gong S, LeDoux MS. Xiao J, et al. Neurology. 2010 Jan 19;74(3):229-38. doi: 10.1212/WNL.0b013e3181ca00ca. Neurology. 2010. PMID: 20083799 Free PMC article.

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