Results 21 to 30 of about 3,520 (162)

Decreased N-TAF1 expression in X-linked dystonia-parkinsonism patient-specific neural stem cells [PDF]

Disease Models & Mechanisms, 2016
X-linked dystonia-parkinsonism (XDP) is a hereditary neurodegenerative disorder involving a progressive loss of striatal medium spiny neurons. The mechanisms underlying neurodegeneration are not known, in part because there have been few cellular models ...
Naoto Ito, William T. Hendriks, Jyotsna Dhakal, Christine A. Vaine, Christina Liu, David Shin, Kyle Shin, Noriko Wakabayashi-Ito, Marisela Dy, Trisha Multhaupt-Buell, Nutan Sharma, Xandra O. Breakefield, D. Cristopher Bragg   +12 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

Tissue-specific and repeat length-dependent somatic instability of the X-linked dystonia parkinsonism-associated CCCTCT repeat. [PDF]

Acta Neuropathol Commun, 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.
Campion LN, Mejia Maza A, Yadav R, Penney EB, Murcar MG, Correia K, Gillis T, Fernandez-Cerado C, Velasco-Andrada MS, Legarda GP, Ganza-Bautista NG, Lagarde JBB, Acuña PJ, Multhaupt-Buell T, Aldykiewicz G, Supnet ML, De Guzman JK, Go C, Sharma N, Munoz EL, Ang MC, Diesta CCE, Bragg DC, Ozelius LJ, Wheeler VC.   +24 more
europepmc   +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]

Neurobiol Dis
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 ...
Tshilenge KT, Bons J, Aguirre CG, Geronimo-Olvera C, Shah S, Rose J, Gerencser AA, Mak SK, Ehrlich ME, Bragg DC, Schilling B, Ellerby LM.   +11 more
europepmc   +2 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

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

Nat Commun
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 ...
Capponi S, Ehret S, Camgöz Z, Gather F, Vaine CA, Özyerli-Göknar E, Follo M, Bragg DC, Vogel T, Timmers HTM.   +9 more
europepmc   +2 more sources

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

Mov Disord, 2022
BackgroundX-linked dystonia-parkinsonism (XDP) is a neurodegenerative disorder caused by the intronic insertion of a SINE-VNTR-Alu (SVA) retrotransposon carrying an (AGAGGG)n repeat expansion in the TAF1 gene.
Reyes CJ, Asano K, Todd PK, Klein C, Rakovic A.   +4 more
europepmc   +2 more sources

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

Front Neurol, 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.
Diestro JDB, Ang MAC, Mondia MWL, Pasco PMD.   +3 more
europepmc   +2 more sources