Publications by CCXDP Consortium Members
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Campion LN, Meijia Maza A, Yadav R, Penney EB, Murcar MG, Correia K, Gillis T, Fernandez-Cerado C, Velasco-Andrada MS, Legarda GP, Ganza-Bautista NG, Lagarde JBB, Acuña PJ, Multhaupt-Buell T, Aldykiewicz G, Supnet ML, De Guzman JK, Go C, Sharma N, Munoz EL, Ang MC, Diesta CCE, Bragg DC, Ozelius LJ, Wheeler VC. Tissue-specific and repeat length-dependent somatic instability of the X-linked dystonia parkinsonism-associated CCCTCT repeat. Acta Neuropathol Commun. 2022 Apr 8;10(1):49. doi: 10.1186/s40478-022-01349-0.
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Capponi S, Stöffler N, Penney EB, Grütz K, Nizamuddin S, Vermunt MW, Castelijns B, Fernandez-Cerado C, Legarda GP, Velasco-Andrada MS, Muñoz EL, Ang MA, Diesta CCE, Creyghton MP, Klein C, Bragg DC, De Rijk P, Timmers HTM. Dissection of TAF1 neuronal splicing and implications for neurodegeneration in X-linked Dystonia-Parkinsonism. Brain Communications, 2021 Oct 27. doi: 10.1093/braincomms/fcab253
- 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. Dystonia-specific mutations in THAP1 alter transcription of genes associated with neurodevelopment and myelin. J Hum Genet. 2021 Oct 15. doi: 10.1016/j.ajhg.2021.09.017
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Cirnaru MD, Song S, Tshilenge KT, Corwin C, Mleczko J, Galicia Aguirre C, Benlhabib H, Bendl J, Apontes P, Fullard J, Creus-Muncunill J, Reyahi A, Nik AM, Carlsson P, Roussos P, Mooney SD, Ellerby LM, Ehrlich ME.Elife. Unbiased identification of novel transcription factors in striatal compartmentation and striosome maturation. eLife 2021 Oct 5;10:e65979 doi: 10.7554/eLife.65979
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Cirnaru M, Creus-Muncunill J, Nelson S, Lewis T, Watson J, Ellerby LM, Gonzalez-Alegre P, Ehrlich ME. Striatal Cholinergic Dysregulation after Neonatal Decrease in X-Linked Dystonia-Parkinsonism-Related TAF1 Isoforms Mov Disord 2021 Aug 17. doi: 10.1002/mds.28750
- Zaninotto AL, de Guzman JK, Stipancic KL, Perry BJ, Supnet ML, Go C, Sharma N, Green JR. Speech and swallowing deficits in X-Linked Dystonia-Parkinsonism Parkinsonism Relat Disord 2021 Jul 9;89:105-110. doi: 10.1016/j.parkreldis.2021.07.006
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Fernandez-Cerado C, Legarda GP, Velasco-Andrada MS, Aguil A, Ganza-Bautista NG, Lagarde JBB, Soria J, Jamora RDG, Acuña PJ, Vanderburg C, Sapp E, DiFiglia M, Murcar MG, Campion L, Ozelius LJ, Alessi AK, Singh-Bains MK, Waldvogel HJ, Faull RLM, Macalintal-Canlas R, Muñoz EL, Penney EB, Ang MA, Diesta CCE, Bragg DC, Acuña-Sunshine G. Promise and challenges of dystonia brain banking: establishing a human tissue repository for studies of X-Linked Dystonia-Parkinsonism. J Neural Transm (Vienna). 2021 Jan 13. doi: 10.1007/s00702-020-02286-9.
- Song SA, Go CL, Acuña PB, De Guzman JKP, Sharma N, Song PC. Progressive decline in voice and voice-related quality of life in X-linked Dystonia-Parkinsonism. J Voice. 2020 Dec 14;S0892-1997(20)30428-8. doi: 10.1016/j.jvoice.2020.11.014
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Petrozziello T, Dios AM, Mueller KA, Vaine CA, Hendriks WT, Glajch KE, Mills AN, Mangkalaphiban K, Penney EB, Ito N, Fernandez-Cerado C, Legarda GPA, Velasco-Andrada MS, Acuña PJ, Ang MA, Muñoz EL, Diesta CCE, Macalintal-Canlas R, Acuña G, Sharma N, Ozelius LJ, Bragg DC, Sadri-Vakili. SVA insertion in X-linked Dystonia-Parkinsonism alters histone H3 acetylation associated with TAF1 gene.
G.PLoS One. 2020 Dec 14;15(12):e0243655. doi: 10.1371/journal.pone.0243655. eCollection 2020. - Christine J Arasaratnam, Malvindar K Singh-Bains, Henry J Waldvogel, Richard L M Faull. Neuroimaging and neuropathology studies of X-linked dystonia-parkinsonism. Neurobiol Dis 2020 Nov 20;148:105186.
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Jamal Al Ali, Christine A Vaine, Shivangi Shah Lindsey Campion, Ahmad Hakoum, Melanie L Supnet, Patrick Acuña, Gabrielle Aldykiewicz, Trisha Multhaupt-Buell, Niecy G M Ganza, John B B Lagarde, Jan K De Guzman, Criscely Go, Benjamin Currall, Bianca Trombetta, Pia K Webb, Michael Talkowski, Steven E Arnold, Pike S Cheah, Naoto Ito, Nutan Sharma, D Cristopher Bragg, Laurie Ozelius, Xandra O Breakefield TAF1 Transcripts and Neurofilament Light Chain as Biomarkers for X-linked Dystonia-Parkinsonism 2020 Movement Disorders Sep 25
- Stephen, CD, Go, CL, Acuña, P, Sharma N. Phasic Knee Bending Dystonic and Parkinsonian Gait: A Characteristic Finding in X-Linked Dystonia-Parkinsonism Mov Disord Clin Pract 2020 Mar 26;7(4):448-452.
- T. Petrozziello, A.M. Dios, K.A. Mueller, C.A. Vaine, D. Shin, W. T. Hendriks, K.E. Glajch, A.N. Mills, K. Mangkalaphiban, E.B. Penney, Cara Fernandez-Cerado, Gierold Paul A. Legarda, M. Salvie Velasco-Andrada, Patrick J. Acuña, Mark A. Ang, Edwin L. Muñoz, Cid Czarina E. Diesta, Regina Macalintal-Canlas, Geraldine Acuña, N. Sharma, L.J. Ozelius, D.C. Bragg, G. Sadri-Vakili Neuroinflammation and histone H3 citrullination are increased in X-linked Dystonia-Parkinsonism post-mortem prefrontal cortex. 2020 Neurobiol of Dis 144:105032
- Capponi, S., Stoffler, N., Irimia, M.,et al. Neuronal-specific alternative splicing of the TAF1 gene is regulated by SRRM4/nSR100. RNA Biol 2020 Jan 17(1):62-74
- Bragg DC, Sharma N, Ozelius LJ X-Linked Dystonia-Parkinsonism: Recent Advances. Curr Opin Neurol. 2019 Aug;32(4):604-609
- Westenberger A, Reyes CJ, Saranza G et al. A hexanucleotide repeat modifies expressivity of X-linked dystonia-parkinsonism. Ann Neurol 2019 Jun;85(6):812-822
- Kleinstiver BP, Sousa AA, Walton RT, Tak YE, Hsu JY, Clement K, Welch MM, Horng JE, Malagon-Lopez J, Scarfò I, Maus MV, Pinello L, Aryee MJ, Joung JK. Engineered CRISPR-Cas12a variants with increased activities and improved targeting ranges for gene, epigenetic and base editing Nat Biotechnol. 2019 Mar;37(3):276-282
- Brueggemann, N, Domingo A, Rasche D et al. Association of Pallidal Neurostimulation and Outcome Predictors With X-linked Dystonia-Parkinsonism. JAMA Neurol 2019 Feb 76(2):211-216
- Song PC, Le H, Acuña P et al. Voice and swallowing dysfunction in X-linked Dystonia-Parkinsonism. Laryngoscope 2019 Jan;130(1):171-177
- Capetian P, Stanslowsky, N, Bernhardi, E. et al. Altered glutamate response and calcium dynamics in iPSC-derived striatal neurons from XDP patients. 2018 Exp Neurol Oct;308:47-58
- Aneichyk T, Hendriks WT, Yadav R et al. Dissecting the Causal Mechanism of X-Linked Dystonia-Parkinsonism by Integrating Genome and Transcriptome Assembly. Cell 2018; 172: 897-909 e821
- Rakovic A, Domingo A, Grutz K et al. Genome editing in induced pluripotent stem cells rescues TAF1 levels in X-linked dystonia-parkinsonism. Mov Disord 2018; 33:1108-1118
- Blood AJ, Waugh JL, Munte TF et al. Increased insula-putamen connectivity in X-linked dystonia-parkinsonism. Neuroimage Clin 2018; 17:835-846
- Bragg DC, Mangkalaphiban K, Vaine CA et al. Disease onset in X-linked dystonia-parkinsonism correlates with expansion of a hexameric repeat within an SVA Proc Natl Acad Sci USA. 2017 Dec 19; 114(51): E11020–E11028.
- Bruggemann N, Rosales, R, Waugh, JL et al. Striatal dysfunction in X-linked dystonia-parkinsonism is associated with disease progression. Eur J Neurol. 2017 May;24(5):680-686
- Ito N, Hendriks WT, Dhakal J et al. Decreased N-TAF1 expression in X-linked dystonia-parkinsonism patient-specific neural stem cells. Dis Model Mech 2016; 9:451-462
- Crittenden JR, Tillberg PW, Riad MH, et al. Striosome-dendron bouquets highlight a unique striatonigral circuit targeting dopamine-containing neurons. Proc Natl Acad Sci USA. 2016 113(40):11318-11323
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