Results 101 to 110 of about 7,623,875 (163)

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

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

Engineering of CD63 Enables Selective Extracellular Vesicle Cargo Loading and Enhanced Payload Delivery

Journal of Extracellular Vesicles
Extracellular vesicles (EVs) are mediators of intercellular communication through the transfer of nucleic acids, lipids and proteins between cells. This property makes bioengineered EVs promising therapeutic vectors.
Wataru Obuchi, Ayrton Zargani‐Piccardi, Kevin Leandro, David Rufino‐Ramos, Emilio Di Ianni, Dawn Madison Frederick, Katia Maalouf, Lisa Nieland, Tianhe Xiao, Pierre Repiton, Christine A. Vaine, Benjamin P. Kleinstiver, D. Cristopher Bragg, Hakho Lee, Miles A. Miller, Xandra O. Breakefield, Koen Breyne   +16 more
doaj   +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

Factors influencing reduced penetrance and variable expressivity in X-linked dystonia-parkinsonism. [PDF]

Med Genet, 2022
Pozojevic J, von Holt BH, Westenberger A.   +2 more
europepmc   +1 more source

Ataxia with Parkinsonism and dystonia after intentional inhalation of liquefied petroleum gas

, 2015
Massimiliano Godani,1 Francesca Canavese,1 Sonia Migliorini,2 Massimo Del Sette1 1Neurology Unit, 2Department of Neuroradiology, Sant’Andrea Hospital, La Spezia, Italy Abstract: The practice of inhaling liquefied petroleum gas (LPG) to commit ...
Migliorini S, Godani M, Canavese F, Del Sette M   +3 more
core  

Repeat-Associated Non-AUG Translation of AGAGGG Repeats that Cause X-Linked Dystonia-Parkinsonism. [PDF]

Mov Disord, 2022
Reyes CJ, Asano K, Todd PK, Klein C, Rakovic A.   +4 more
europepmc   +1 more source

Dissection of TAF1 neuronal splicing and implications for neurodegeneration in X-linked dystonia-parkinsonism. [PDF]

Brain Commun, 2021
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.   +17 more
europepmc   +1 more source

Biopsychosocial Aspect of Patients With X-Linked Dystonia-Parkinsonism: Its Implications on Quality of Life. [PDF]

Cureus, 2022
Alcachupas A, Bellosillo K, Catolico WR, Davis MC, Diaz A, Doyongan YK, Eduarte R, Gersava E, Intrepido MB, Laluma MGK, Lavalle CC, Millan JJ.   +11 more
europepmc   +1 more source