Results 91 to 100 of about 7,564,623 (164)

Retrotransposon: an insight into neurological disorders from perspectives of neurodevelopment and aging

Translational Neurodegeneration
Neurological disorders present considerable challenges in diagnosis and treatment due to their complex and diverse etiology. Retrotransposons are a type of mobile genetic element that are increasingly revealed to play a role in these diseases.
Wenchuan Zhang, Chenxuan Huang, Haiyang Yao, Shangzhi Yang, Zeyidan Jiapaer, Juan Song, Xianli Wang   +6 more
doaj   +1 more source

Phenotypic comparison between combined dystonia-parkinsonism and idiopathic adult-onset dystonia

The clinical characteristics of dystonia occurring in association with sporadic neurodegenerative parkinsonism have not been systematically explored or compared with those of idiopathic adult-onset dystonia.
Velucci, Vittorio, Altavista, Maria Concetta, Esposito, Marcello, Zibetti, Maurizio, Squintani, Giovanna, Erro, Roberto, Fabbrini, Giovanni, Cotelli, Maria Sofia, Belvisi, Daniele, Pellicciari, Roberta, Idrissi, Sarah, Cassano, Daniela, Schirinzi, Tommaso, Castagna, Anna, Barbero, Pierangelo, Ceravolo, Roberto, Magistrelli, Luca, Muroni, Antonella, Berardelli, Alfredo, Trinchillo, Assunta, Mascia, Marcello Mario, Ferrazzano, Gina, Pisani, Antonio, Defazio, Giovanni, Terranova, Carmen, Marinelli, Lucio   +25 more
core   +1 more source

Dissecting the Causal Mechanism of X-Linked Dystonia-Parkinsonism by Integrating Genome and Transcriptome Assembly

, 2017
X-linked Dystonia-Parkinsonism (XDP) is a Mendelian neurodegenerative disease endemic to the Philippines. We integrated genome and transcriptome assembly with induced pluripotent stem cell-based modeling to identify the XDP causal locus and potential ...
Yechiam Sapir, Caroline Antolik, Michael E. Talkowski, Naoto Ito, Ryan L. Collins, D. Cristopher Bragg, David Shin, Criscely Go, William Hendriks, Alexei Stortchevoi, Rachita Yadav, Christine A. Vaine, Benjamin Currall, Xandra O. Breakefield, Jyotsna Dhakal, David Jaffe, Brian J. Wainger, Daniel Henderson, Neil Weisenfeld, Nutan Sharma, Carrie Hanscom, Harrison Brand, Ashok Ragavendran, Marisela Dy, Laurie J. Ozelius, Tatsiana Aneichyk, Patrick Acuna, Dadi Gao   +27 more
core   +1 more source

Network mechanisms in rapid-onset dystonia-parkinsonism [PDF]

Rapid-onset dystonia-parkinsonism (RDP) is a rare neurological disorder caused by mutations in the ATP1A3 gene. Symptoms are characterized by a dystonia-parkinsonism.
van Riesen, Christoph, Nikulin, V. ; https://orcid.org/, Möller, M., Nikulin, Vadim V., Nieweler, Johanna A., van Riesen, C., Nieweler, J., Möller, Meret   +7 more
core   +1 more source

Myelin pathology is a key feature of X-linked Dystonia Parkinsonism

X-linked Dystonia-Parkinsonism (XDP) is a progressive, adult-onset neurodegenerative movement disorder that predominantly affects males of Filipino descent 1-3 . The disease is caused by the insertion of a SINE-VNTR-Alu subfamily F (SVA_F) retrotransposon within an intron of the TATA-box binding ...
Priya Prakash, Kerry C Limberg, Weimin Zhang, Yu Zhao, Klaudia F Laborc, Anna O’Keeffe, Bryanna C Vilnaigre, Heather Appleby, Michael R O’Dea, Cara Fernandez-Cerado, Gierold Paul A Legarda, Michelle Sy, Edwin L Muñoz, Mark Angelo C Ang, Cid Czarina E Diesta, Justin Han, Ean Norenberg, Ellen B Penney, D Cristopher Bragg, Adam C Mar, Ran Brosh, Jef D Boeke, Shane A Liddelow   +22 more
openaire   +2 more sources

Tau isoform imbalance and aggregation are pathological hallmarks of X-linked dystonia-parkinsonism

Tauopathies encompass diverse neurodegenerative diseases unified by aberrant patterns of tau deposition in brain. Although most appear sporadic, some are linked to genetic etiologies that offer unique mechanistic insights.
Benjamin Wymann, John Lemanski, Mark Angelo C Ang, Nandini Ramesh, Chao-zong Lee, Nil F Saez-Calveras, Madison Hincher, Nicolas A Bravo-Vasquez, Siddarth Reed, Criscely Go, Steven Arnold, Michael Talkowski, Ranee Zara Monsanto, Yin Yin Ruan, Cid Czarina E Diesta, Gelbert Crescencio, Michelle Sy, Grant Griesman, Ghazaleh Sadri-Vakili, Noe Quittot, M. Salvie Velasco-Andrada, Anastasie Mate de Gerando, Bimal Jana, Clotilde Lagier-Tourenne, Matthew Nolan, Aloysius Domingo, Justin Han, Micaela G Murcar, Tiziana Petrozziello, Aaron Held, Edwin L Munoz, Hoang-Dai Tran, Pia Kivisakk Webb, Ean Norenberg, Charles Jourdan F Reyes, Grace Anne Field, Brian J Wainger, Hayden Wheeler, Rachita Yadav, Laura Moran, Mark W Albers, Bradley T Hyman, Christine A Vaine, Kathryn OKeefe, Serkan Erdin, Ellen B Penney, Rachel E Bennett, Cara Fernandez-Cerado, Nutan Sharma, Yogesh Tak, Gierold Paul A Legarda, Jeffrey W Miller, Laurie J Ozelius, Marc I Diamond, D Cristopher Bragg, Dadi Gao   +55 more
core   +1 more source

Patterns and biomarkers of X-linked dystonia parkinsonism disease progression [PDF]

2024X-linked dystonia parkinsonism is a neurodegenerative movement disorder that originate from the island of Panay, Philippines. Though this is a relatively novel disease, efforts have been directed towards solving the etiology, which currently points ...
Joy, Keziah
core   +1 more source

Oculomotor abnormalities indicate early executive dysfunction in prodromal X-linked dystonia-parkinsonism (XDP). [PDF]

J Neurol, 2023
Mertin R, Diesta C, Brüggemann N, Rosales RL, Hanssen H, Westenberger A, Steinhardt J, Heldmann M, Manalo HTS, Oropilla JQ, Klein C, Helmchen C, Sprenger A.   +12 more
europepmc   +1 more source

The genetics of primary dystonias and related disorders.

, 2002
Dystonias are a heterogeneous group of disorders which are known to have a strong inherited basis. This review details recent advances in our understanding of the genetic basis of dystonias, including the primary dystonias, the 'dystonia-plus' syndromes ...
Németh, AH
core   +1 more source

Mosaic divergent repeat interruptions of motif length and sequence, mDRILS, of XDP-linked repeats affect formation of DNA/RNA triplexes & quadruplexes.

PLoS ONE
An inserted SINE-VNTR-Alu(AGAGGG)n repeat into the TAF1 gene is the cause of X-linked dystonia-parkinsonism. Mosaic divergent repeat interruptions affecting both motif length and sequence (mDRILS) of the canonical repeat (AGAGGG)n arise and can diminish ...
Niousha Sharifi Soltani, Bita Zamiri, Amirreza Shafieeha, Ali Akbar Moosavi-Movahedi, Joshua Laß, Christine Klein, Ana Westenberger, Joanne Trinh, Sebastian Hönes, Christopher E Pearson   +9 more
doaj   +1 more source