Regular ArticleRefined Linkage Disequilibrium and Physical Mapping of the Gene Locus for X-Linked Dystonia–Parkinsonism (DYT3)
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A scoping review on the diagnosis and treatment of X-linked dystonia-parkinsonism
2024, Parkinsonism and Related Disorders30 years of repeat expansion disorders: What have we learned and what are the remaining challenges?
2021, American Journal of Human GeneticsCitation Excerpt :Autopsy of XDP-affected brains has shown lesions in the striatum resembling those seen in individuals with HD.123 Genome-wide linkage in XDP-affected families had identified the DYT3 locus on Xq13.1.124 Using shotgun sequencing from BAC clones from a subject with XDP, Makino et al.122 identified a SINE-VNTR-Alu (SVA) retrotransposon inserted in an intron of TAF1 (MIM: 313650), encoding the largest component of the transcription factor IID complex.
Induced pluripotent stem cells for modeling of X-linked dystonia-parkinsonism
2021, iPSCs for Modeling Central Nervous System Disorders, Volume 6O-GlcNAcylation and neurodegeneration
2017, Brain Research BulletinCitation Excerpt :The Ogt gene is localized at Xq13 and its deletion in mice causes embryonic lethality (Shafi et al., 2000). Parkinsonian-dystonia (DYT3) has been mapped to the X chromosomal region that includes the Ogt locus (Nemeth et al., 1999). A rare type of glycosylation has been recently reported, which involves the O-GlcNAc modification of extracellular proteins containing folded EGF-like domains such as Notch receptors (Matsuura et al., 2008).
X-linked Dystonia-Parkinsonism patient cells exhibit altered signaling via nuclear factor-kappa B
2017, Neurobiology of DiseaseCitation Excerpt :Chi-square analysis revealed a significant difference in the distribution of fold change values between XDP and control NSCs (Χ2 = 26.3, df = 3, p < 0.0001), further suggesting that the patient NSCs respond to cytokine challenge with a broader activation of NFκB target genes than do corresponding control cells. Since the description of the first reported cases (Lee et al., 1976), most research into XDP has focused on detailed characterizations of the clinical phenotype (Aguilar et al., 2011; Evidente et al., 2002a; Evidente et al., 2002b; Evidente et al., 2004; Jamora et al., 2014; Lee et al., 1991; Lee et al., 2002; Lee et al., 2011; Pasco et al., 2011) and efforts to pinpoint the pathogenic gene lesion (Domingo et al., 2015; Graeber and Muller, 1992; Haberhausen et al., 1995; Herzfeld et al., 2007; Kupke et al., 1992; Makino et al., 2007; Muller et al., 1994; Nemeth et al., 1999; Nolte et al., 2003; Wilhelmsen et al., 1991). There have been limited analyses of post-mortem brain tissue which have described XDP-related neuropathology (Goto et al., 2013; Goto et al., 2005; Waters et al., 1993) and expression of certain transcripts within the striatum (Makino et al., 2007), but to date there has been little information about specific cellular defects which might contribute to disease pathogenesis.
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To whom correspondence and reprint requests should be addressed at Wellcome Trust Centre for Human Genetics, Roosevelt Drive, Oxford, OX3 7BN, England. Telephone: 44 1865 287518. Fax: 44 1865 764276. E-mail: [email protected].
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Present affiliation: MRC Mammalian Genetics Unit, Medical Research Council, Harwell, Didcot, Oxfordshire OX11 0RD, UK.