Results 21 to 30 of about 2,327 (119)

Pathogenic SREK1 decrease in Huntington's disease lowers TAF1 mimicking X-linked dystonia parkinsonism [PDF]

, 2020
The Author(s) (2020).Huntington’s disease and X-linked dystonia parkinsonism are two monogenic basal ganglia model diseases. Huntington’s disease is caused by a polyglutamine-encoding CAG repeat expansion in the Huntingtin (HTT) gene leading to several ...
Cabrera, Jorge R., García-Escudero, Ramón, Hernández Hernández, Ivo, Sanchez-Martin, Manuel, Lucas, José Javier, Santos Galindo, María, Cabrera, Jorge Rubén, Pérez-Álvarez, María José, Lucas, José J, Cabrera, Jorge R, Pérez Álvarez, María José, Santos-Galindo, María, Lucas, José J., Pérez-Álvarez, María J, Sánchez-Martín, Manuel A., Domínguez, Verónica, Hernández, Ivó H., Pintado, Belén, Hernández, Ivó H   +18 more
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Tissue-specific and repeat length-dependent somatic instability of the X-linked dystonia parkinsonism-associated CCCTCT repeat

Acta Neuropathologica Communications, 2022
X-linked dystonia-parkinsonism (XDP) is a progressive adult-onset neurodegenerative disorder caused by insertion of a SINE-VNTR-Alu (SVA) retrotransposon in the TAF1 gene.
Lindsey N. Campion, Alan Meijia Maza, Rachita Yadav, Ellen B. Penney, Micaela G. Murcar, Kevin Correia, Tammy Gillis, Cara Fernandez-Cerado, M. Salvie Velasco-Andrada, G. Paul Legarda, Niecy G. Ganza-Bautista, J. Benedict B. Lagarde, Patrick J. Acuña, Trisha Multhaupt-Buell, Gabrielle Aldykiewicz, Melanie L. Supnet, Jan K. De Guzman, Criscely Go, Nutan Sharma, Edwin L. Munoz, Mark C. Ang, Cid Czarina E. Diesta, D. Cristopher Bragg, Laurie J. Ozelius, Vanessa C. Wheeler   +24 more
doaj   +1 more source

Depression in X-linked dystonia-parkinsonism: A case-control study [PDF]

, 2013
X-linked dystonia-parkinsonism (XDP), also known as lubag, was originally described as endemic to Panay, Philippines [ [1] ]. XDP demonstrates a primary and progressive neuronal degeneration of the striatum and is characterized by an adult-onset movement
Nakataki, Masahito, Morigaki, Ryoma, Mure, Hideo, Ohmori, Tetsuro, Teleg, Rosalia A., Kawarai, Toshitaka, Tabuena, Ma. Daisy P., Kaji, Ryuji, Nagahiro, Shinji, Pasco, Paul Matthew D., Goto, Satoshi, Lee, Lillian V., Iga, Junichi, Sako, Wataru   +13 more
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Psychomotor impairments and therapeutic implications revealed by a mutation associated with infantile Parkinsonism-Dystonia

eLife, 2021
Parkinson disease (PD) is a progressive, neurodegenerative disorder affecting over 6.1 million people worldwide. Although the cause of PD remains unclear, studies of highly penetrant mutations identified in early-onset familial parkinsonism have ...
Jenny I Aguilar, Mary Hongying Cheng, Josep Font, Alexandra C Schwartz, Kaitlyn Ledwitch, Amanda Duran, Samuel J Mabry, Andrea N Belovich, Yanqi Zhu, Angela M Carter, Lei Shi, Manju A Kurian, Cristina Fenollar-Ferrer, Jens Meiler, Renae Monique Ryan, Hassane S Mchaourab, Ivet Bahar, Heinrich JG Matthies, Aurelio Galli   +18 more
doaj   +1 more source

levels in X‐linked dystonia‐parkinsonism

, 2018
Background: The most likely genetic cause of X‐linked dystonia‐parkinsonism, a neurodegenerative movement disorder endemic to the Philippines, is a 2672‐bp‐long retrotransposon insertion in intron 32 of the TAF1 gene. The objectives of this study were to
Rolfs, A, Sally A. Cowley, Norbert Brüggemann, Rakovic, A, Philipp Capetian, Rosales, R, Insa Lenz, Karen Grütz, Brüggemann, N, Ana Westenberger, Cowley, Sally, Jamora, D, Capetian, P, Inke König, Westenberger, A, Cowley, SA, Arndt Rolfs, Lenz, I, Klein, C, Domingo, A, Kulikovskaja, L, Dominic Jamora, Seibler, P, Aleksandar Rakovic, König, I, Raymond Rosales, Grütz, K, Christine Klein, Philip Seibler, Aloysius Domingo, Leonora Kulikovskaja   +30 more
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Transcriptional Alterations in X-Linked Dystonia–Parkinsonism Caused by the SVA Retrotransposon

, 2022
X-linked dystonia–parkinsonism (XDP) is a severe neurodegenerative disorder that manifests as adult-onset dystonia combined with parkinsonism. A SINE-VNTR-Alu (SVA) retrotransposon inserted in an intron of the TAF1 gene reduces its expression and ...
Norbert Brüggemann, Roland Dominic G. Jamora, Cid Czarina E. Diesta, Susen Schaake, Malte Spielmann, Karen Grütz, Frank J. Kaiser, Ana Westenberger, Ronnie Tse, Joseph Neos Cruz, Jelena Pozojevic, Raymond L. Rosales, Markus Glatzel, Veronica Yumiceba, Henriette Kirchner, Jakob Matschke, Joanne Trinh, Shela Marie Algodon, Varun K. A. Sreenivasan, Kristin Schulz, Joshua Laß, Aleksandar Rakovic, Christine Klein, Nathalie Kruse, Philip Seibler, Kristian Händler   +25 more
core   +1 more source

Phenomenology of "Lubag" or X-linked dystonia-parkinsonism

, 2002
X-linked dystonia-parkinsonism (XDP), or Lubag syndrome, is known to cause progressive dystonia, with or without parkinsonism, among Filipino male adults with maternal roots from the Philippine island of Panay.
Esteban, Raymund, Cuanang, Joven, Pasco, Paul, Hernandez, Dena, Singleton, Andrew, San Luis, Amado, Gwinn-Hardy, Katrina, Alfon, Jhoe Anthony, Advincula, Joel, Natividad, Filipinas F., Evidente, Virgilio Gerald, Hardy, John   +11 more
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Non-invasive detection of allele-specific CRISPR-SaCas9-KKH disruption of TOR1A DYT1 allele in a xenograft mouse model

Molecular Therapy: Nucleic Acids
DYT1 dystonia is a neurological movement disorder characterized by a dominant 3-base pair deletion (ΔGAG) in the TOR1A gene. This study demonstrates a gene-editing approach that selectively targets the ΔGAG mutation in the TOR1A DYT1 allele while ...
Katia E. Maalouf, Dawn Madison Frederick, Nutan Sharma, Edwina Abou Haidar, Tianhe Xiao, Justin Seungkyu Han, Mohammed S. Mahamdeh, Roy J. Soberman, David Rufino-Ramos, Benjamin P. Kleinstiver, Hyder A. Jinnah, Christine A. Vaine, D. Cristopher Bragg, Koen Breyne   +13 more
doaj   +1 more source

Validation of a Questionnaire for Distinguishing X-Linked Dystonia Parkinsonism From Its Mimics

Frontiers in Neurology, 2018
Objectives: X-linked dystonia parkinsonism (XDP) is a neurodegenerative movement disorder endemic to the island of Panay in the Philippines. We undertook a population-based prevalence study to enumerate all cases of XDP in Panay.
Jose Danilo B. Diestro, Mark Angelo C. Ang, Mark Willy L. Mondia, Paul Matthew D. Pasco   +3 more
doaj   +1 more source

Postnatal Conditional Deletion of Bcl11b in Striatal Projection Neurons Mimics the Transcriptional Signature of Huntington’s Disease

Biomedicines, 2022
The dysregulation of striatal gene expression and function is linked to multiple diseases, including Huntington’s disease (HD), Parkinson’s disease, X-linked dystonia-parkinsonism (XDP), addiction, autism, and schizophrenia. Striatal medium spiny neurons
Sicheng Song, Jordi Creus Muncunill, Carlos Galicia Aguirre, Kizito-Tshitoko Tshilenge, B. Wade Hamilton, Akos A. Gerencser, Houda Benlhabib, Maria-Daniela Cirnaru, Mark Leid, Sean D. Mooney, Lisa M. Ellerby, Michelle E. Ehrlich   +11 more
doaj   +1 more source