Publications by CCXDP Consortium Members
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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, Acuna 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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