Results 21 to 30 of about 5,489 (166)

Alterations in energy production in a Drosophila model for the X-linked dystonia-parkinsonism-related Taf1 deficiency [PDF]

Frontiers in Aging Neuroscience
BackgroundX-linked dystonia-parkinsonism (XDP), an adult-onset neurodegenerative disorder, is caused by an SVA insertion in the TAF1 gene, containing a hexanucleotide, the length of which is correlated to the severity of the disease.
Frida Mandik, Shela Marie Algodon, Philip Seibler, Christine Klein, Melissa Vos   +4 more
doaj   +2 more sources

Correction of the molecular phenotype of X-linked Dystonia-Parkinsonism reveals a non-canonical function of BRD4 [PDF]

Nature Communications
Transcription and mRNA processing are tightly coupled regulatory layers on gene expression, and their perturbations underly human disorders. X-linked Dystonia-Parkinsonism (XDP) is a unique example of a human disease connecting aberrant mRNA processing ...
Simona Capponi, Sandra Ehret, Zeynep Camgöz, Fabian Gather, Christine A. Vaine, Ezgi Özyerli-Göknar, Marie Follo, D. Cristopher Bragg, Tanja Vogel, H. Th. Marc Timmers   +9 more
doaj   +2 more sources

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

Brain, 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 ...
Hernández IH, Cabrera JR, Santos-Galindo M, Sánchez-Martín M, Domínguez V, García-Escudero R, Pérez-Álvarez MJ, Pintado B, Lucas JJ.   +8 more
europepmc   +2 more sources

Validation of the XDP–MDSP rating scale for the evaluation of patients with X-linked dystonia-parkinsonism

npj Parkinson's Disease, 2017
Disease rating scale: Adressing a Philippine problem Researchers validate a tool to assess patients with X-linked dystonia parkinsonism (XDP), a movement disorder that affects men of Filipino descent.
Paul Matthew D. Pasco, Roland Dominic G. Jamora, Raymond L. Rosales, Cid Czarina E. Diesta, Arlene R. Ng, Rosalia A. Teleg, Criscely L. Go, Lillian Lee, Hubert H. Fernandez   +8 more
doaj   +2 more sources

Proteomic analysis of X-linked dystonia parkinsonism disease striatal neurons reveals altered RNA metabolism and splicing [PDF]

Neurobiology of Disease
Summary: X-linked dystonia-parkinsonism (XDP) is a rare neurodegenerative disease endemic to the Philippines. The genetic cause for XDP is an insertion of a SINE-VNTR-Alu (SVA)-type retrotransposon within intron 32 of TATA-binding protein associated ...
Kizito-Tshitoko Tshilenge, Joanna Bons, Carlos Galicia Aguirre, Cristian Geronimo-Olvera, Samah Shah, Jacob Rose, Akos A. Gerencser, Sally K. Mak, Michelle E. Ehrlich, D. Cristopher Bragg, Birgit Schilling, Lisa M. Ellerby   +11 more
doaj   +2 more sources

Lubag Syndrome (X-linked Dystonia Parkinsonism) Case Study of Mr G. Infante [PDF]

Movement Disorders, 2017
Sex-linked dystonia parkinsonism (XDP) also known as Lubag Syndrome is a rare sex-linked genetic progressive movement disorder affecting almost exclusively males from the province of Capiz in the Philippines and their descendants. At the Mater Centre for
Vincent Cheah
core   +9 more sources

G-quadruplexes in an SVA retrotransposon cause aberrant TAF1 gene expression in X-linked dystonia parkinsonism. [PDF]

Nucleic Acids Res
International audienceG-quadruplexes (G4s) are non-canonical nucleic acid structures that form in guanine (G)-rich genomic regions. X-linked dystonia parkinsonism (XDP) is an inherited neurodegenerative disease in which a SINE–VNTR–Alu (SVA ...
Nicoletto G, Terreri M, Maurizio I, Ruggiero E, Cernilogar FM, Vaine CA, Cottini MV, Shcherbakova I, Penney EB, Gallina I, Monchaud D, Bragg DC, Schotta G, Richter SN.   +13 more
europepmc   +5 more sources

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

Parkinsonism & Related Disorders, 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
core   +3 more sources

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

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   +2 more sources

ZNF91 is an endogenous repressor of the molecular phenotype associated with X-linked dystonia-parkinsonism (XDP). [PDF]

Proc Natl Acad Sci U S A
X-linked dystonia–parkinsonism (XDP) is a severe neurodegenerative disorder resulting from an inherited intronic SINE-Alu-VNTR (SVA) retrotransposon in the TAF1 gene that causes dysregulation of TAF1 transcription.
Rosenkrantz JL, Brandorff JE, Raghib S, Kapadia A, Vaine CA, Bragg DC, Farmiloe G, Jacobs FMJ.   +7 more
europepmc   +2 more sources