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Items: 1 to 20 of 82

1.
The DYT6 dystonia causative protein THAP1 is responsible for proteasome activity via PSMB5 transcriptional regulation
Yan Wang, Yi Wang, Tomohiro Iriki, Eiichi Hashimoto, Maki Inami, Sota Hashimoto, Ayako Watanabe, Hiroshi Takano, Ryo Motosugi, Shoshiro Hirayama, Hiroki Sugishita, Yukiko Gotoh, Ryoji Yao, Jun Hamazaki, Shigeo Murata
Nat Commun. 2025; 16: 1600. Published online 2025 Feb 14. doi: 10.1038/s41467-025-56867-x
PMCID:
PMC11828994
ArticlePDF–3.1M
2.
Transcriptional regulatory network for neuron-glia interactions and its implication for DYT6 dystonia
Dhananjay Yellajoshyula
Dystonia. Author manuscript; available in PMC 2024 May 10.
Published in final edited form as: Dystonia. 2023; 2: 11796. Published online 2023 Oct 30. doi: 10.3389/dyst.2023.11796
PMCID:
PMC11087070
ArticlePDF–518K
3.
Emerging role of a systems biology approach to elucidate factors of reduced penetrance: transcriptional changes in THAP1-linked dystonia as an example
Sokhna Haissatou Diaw, Fabian Ott, Alexander Münchau, Katja Lohmann, Hauke Busch
Med Genet. 2022 Jun; 34(2): 131–141. Published online 2022 Aug 12. doi: 10.1515/medgen-2022-2126
PMCID:
PMC11006298
ArticlePDF–765K
4.
Novel DYT11 gene mutation in patients without dopaminergic deficit (SWEDD) screened for dystonia
Roberto Cilia, Chiara Reale, Anna Castagna, Alessia Nasca, Marco Muzi-Falconi, Chiara Barzaghi, Alberto Marzegan, Magda Granata, Giorgio Marotta, Giorgio Sacilotto, Davide Vallauri, Gianni Pezzoli, Stefano Goldwurm, Barbara Garavaglia
Neurology. 2014 Sep 23; 83(13): 1155–1162. doi: 10.1212/WNL.0000000000000821
PMCID:
PMC10695665
ArticlePDF–710K
5.
Applicability of clinical genetic testing for deep brain stimulation treatment in monogenic Parkinson’s disease and monogenic dystonia: a multidisciplinary team perspective
Valentino Rački, Mario Hero, Eliša Papić, Gloria Rožmarić, Nada Starčević Čizmarević, Darko Chudy, Borut Peterlin, Vladimira Vuletić
Front Neurosci. 2023; 17: 1282267. Published online 2023 Nov 10. doi: 10.3389/fnins.2023.1282267
PMCID:
PMC10667448
ArticlePDF–376K
6.
Synaptic Dysfunction in Dystonia: Update From Experimental Models
Ilham El Atiallah, Paola Bonsi, Annalisa Tassone, Giuseppina Martella, Gerardo Biella, Antonio N. Castagno, Antonio Pisani, Giulia Ponterio
Curr Neuropharmacol. 2023 Sep 1; 21(11): 2310–2322. Published online 2023 Sep 1. doi: 10.2174/1570159X21666230718100156
PMCID:
PMC10556390
ArticlePDF–4.2M
7.
Neuroimaging findings in DYT1 dystonia and the pathophysiological implication: A systematic review
Funmilola T. Taiwo, Philip B. Adebayo
Brain Behav. 2023 Jun; 13(6): e3023. Published online 2023 May 11. doi: 10.1002/brb3.3023
PMCID:
PMC10275528
ArticlePDF–702K
8.
Disordered network structure and function in dystonia: pathological connectivity vs. adaptive responses
An Vo, Nha Nguyen, Koji Fujita, Katharina A Schindlbeck, Andrea Rommal, Susan B Bressman, Martin Niethammer, David Eidelberg
Cereb Cortex. 2023 Jun 1; 33(11): 6943–6958. Published online 2023 Feb 7. doi: 10.1093/cercor/bhad012
PMCID:
PMC10233302
ArticlePDF–1.7M
9.
GPi DBS treatment outcome in children with monogenic dystonia: a case series and review of the literature
Darko Chudy, Marina Raguž, Vladimira Vuletić, Valentino Rački, Eliša Papić, Nataša Nenadić Baranašić, Nina Barišić
Front Neurol. 2023; 14: 1151900. Published online 2023 Apr 24. doi: 10.3389/fneur.2023.1151900
PMCID:
PMC10166204
ArticlePDF–196K
10.
Intronic enhancers of the human SNCA gene predominantly regulate its expression in brain in vivo
Fubo Cheng, Wenxu Zheng, Chang Liu, Peter Antony Barbuti, Libo Yu-Taeger, Nicolas Casadei, Jeannette Huebener-Schmid, Jakob Admard, Karsten Boldt, Katrin Junger, Marius Ueffing, Henry Houlden, Manu Sharma, Rejko Kruger, Kathrin Grundmann-Hauser, Thomas Ott, Olaf Riess
Sci Adv. 2022 Nov; 8(47): eabq6324. Published online 2022 Nov 23. doi: 10.1126/sciadv.abq6324
PMCID:
PMC9683720
ArticlePDF–4.2M
11.
A case of novel DYT6 dystonia variant with serious complications after deep brain stimulation therapy: a case report
M. Grofik, M. Cibulka, J. Olekšáková, M. Turčanová Koprušáková, T. Galanda, J. Necpál, P. Jungová, E. Kurča, J Winkelmann, M. Zech, R. Jech
BMC Neurol. 2022; 22: 344. Published online 2022 Sep 12. doi: 10.1186/s12883-022-02871-3
Correction in:
BMC Neurol. 2022; 22: 407.
PMCID:
PMC9465909
ArticlePDF–2.5M
12.
A Critical Investigation of Cerebellar Associative Learning in Isolated Dystonia
Anna Sadnicka, Lorenzo Rocchi, Anna Latorre, Elena Antelmi, James Teo, Isabel Pareés, Britt S. Hoffland, Kristian Brock, Katja Kornysheva, Mark J. Edwards, Kailash P. Bhatia, John C. Rothwell
Mov Disord. 2022 Jun; 37(6): 1187–1192. Published online 2022 Mar 21. doi: 10.1002/mds.28967
PMCID:
PMC9313805
ArticlePDF–962K
13.
The Dystonia Gene THAP1 Controls DNA Double Strand Break Repair Choice
Kenta Shinoda, Dali Zong, Elsa Callen, Wei Wu, Lavinia C. Dumitrache, Frida Belinky, Raj Chari, Nancy Wong, Momoko Ishikawa, Andre Stanlie, Trisha Multhaupt-Buell, Nutan Sharma, Laurie Ozelius, Michelle Ehrlich, Peter J. McKinnon, Andre Nussenzweig
Mol Cell. Author manuscript; available in PMC 2022 Jun 17.
Published in final edited form as: Mol Cell. 2021 Jun 17; 81(12): 2611–2624.e10. Published online 2021 Apr 14. doi: 10.1016/j.molcel.2021.03.034
PMCID:
PMC8985095
ArticlePDF–2.1M
14.
A pathogenic DYT-THAP1 dystonia mutation causes hypomyelination and loss of YY1 binding
Dhananjay Yellajoshyula, Abigail E Rogers, Audrey J Kim, Sumin Kim, Samuel S Pappas, William T Dauer
Hum Mol Genet. 2022 Apr 1; 31(7): 1096–1104. Published online 2021 Oct 23. doi: 10.1093/hmg/ddab310
PMCID:
PMC8976427
ArticlePDF–1.2M
15.
Changes in pallidal neural activity following long-term symptom improvement from botulinum toxin treatment in DYT6 dystonia: a case report
Andrea Giorni, Terry Coyne, Peter A. Silburn, George D. Mellick, Pankaj Sah, François Windels
J Med Case Rep. 2022; 16: 15. Published online 2022 Jan 9. doi: 10.1186/s13256-021-03215-4
PMCID:
PMC8742936
ArticlePDF–2.6M
16.
Pharmacological perturbation reveals deficits in D2 receptor responses in Thap1 null mice
Natalie M. Frederick, Morgan M. Pooler, Parth Shah, Alessandro Didonna, Puneet Opal
Ann Clin Transl Neurol. 2021 Dec; 8(12): 2302–2308. Published online 2021 Nov 21. doi: 10.1002/acn3.51481
PMCID:
PMC8670318
ArticlePDF–484K
17.
Abnormal cerebellar function and tremor in a mouse model for non-manifesting DYT6
Meike E. van der Heijden, Dominic J. Kizek, Ross Perez, Elena K. Ruff, Michelle E. Ehrlich, Roy V. Sillitoe
J Physiol. Author manuscript; available in PMC 2022 Apr 1.
Published in final edited form as: J Physiol. 2021 Apr; 599(7): 2037–2054. Published online 2021 Jan 9. doi: 10.1113/JP280978
PMCID:
PMC8559601
ArticlePDF–1.3M
18.
Factors Influencing the Surgical Decision in Dystonia Patients Referred for Deep Brain Stimulation
Carolina Gorodetsky, Paula Azevedo, Carolina Candeias da Silva, Alfonso Fasano
Toxins (Basel) 2021 Aug; 13(8): 511. Published online 2021 Jul 22. doi: 10.3390/toxins13080511
PMCID:
PMC8402533
ArticlePDF–592K
19.
DYT6 Dystonia: A Neuropathological Study
Reema Paudel, Abi Li, John Hardy, Kailash P. Bhatia, Henry Houlden, Janice Holton
Neurodegener Dis. Author manuscript; available in PMC 2021 Jul 31.
Published in final edited form as: Neurodegener Dis. 2016; 16(3-4): 273–278. Published online 2015 Nov 27. doi: 10.1159/000440863
PMCID:
PMC8325067
ArticlePDF–809K
20.
Reduced Expression of GABAA Receptor Alpha2 Subunit Is Associated With Disinhibition of DYT-THAP1 Dystonia Patient-Derived Striatal Medium Spiny Neurons
Selma Staege, Anna Kutschenko, Hauke Baumann, Hannes Glaß, Lisa Henkel, Thomas Gschwendtberger, Norman Kalmbach, Martin Klietz, Andreas Hermann, Katja Lohmann, Philip Seibler, Florian Wegner
Front Cell Dev Biol. 2021; 9: 650586. Published online 2021 May 21. doi: 10.3389/fcell.2021.650586
PMCID:
PMC8176025
ArticlePDF–3.7M

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