M. Salvie Velasco-Andrada

Tau isoform imbalance and aggregation are pathological hallmarks of X-linked dystonia-parkinsonism

Charles Jourdan Reyes, Aloysius Domingo, Ellen B. Penney, Ean P. Norenberg et autres

SUMMARY 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. Here we report that X-linked Dystonia-Parkinsonism (XDP), caused by a non-coding retrotransposon-associated …

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Therapeutic targeting of alternative splicing caused by a lethal noncoding structural variant in X-linked dystonia parkinsonism

Rachita Yadav, Christine A. Vaine, Aloysius Domingo, Sheldon C. Reed et autres

X-linked Dystonia-Parkinsonism (XDP) is a lethal adult-onset neurodegenerative disorder that exhibits features of dystonia and parkinsonism and is exclusively associated with a causal founder haplotype that is indigenous to the Philippines and affects Filipino males. Using patient-specific fibroblasts, neural stem cells (NSC), …

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A hexamer tandem repeat RNA embedded within an SVA retrotransposon drives R-loop formation and neurodegeneration

Laura D’Ignazio, Alan P. R. Lorenzetti, Ellen B. Penney, Taylor A. Evans et autres

A hexamer tandem repeat RNA embedded within an SVA retrotransposon drives R-loop formation and neurodegeneration

Laura D’Ignazio, Alan P. R. Lorenzetti, Ellen B. Penney, Taylor A. Evans et autres

Retrotransposon activation is emerging as a significant factor in neurodegenerative disease pathogenesis. SINE-VNTR-Alu (SVAs) are hominid-specific retrotransposons that create genetic variation through insertion polymorphisms and variable short tandem repeat (STR) lengths. We investigate how the SVA (CCCTCT) n STR contributes to the …

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Therapeutic Targeting of Alternative Splicing Caused by a Lethal Noncoding Structural Variant in X-Linked Dystonia Parkinsonism

Rachita Yadav, Christine A. Vaine, Aloysius Domingo, Shivangi Shah et autres

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Correction to: Tissue-specific and repeat length-dependent somatic instability of the X-linked dystonia parkinsonism-associated CCCTCT repeat

Lindsey N. Campion, Alan Mejia Maza, Rachita Yadav, Ellen B. Penney et autres

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

Lindsey N. Campion, Alan Mejia Maza, Rachita Yadav, Ellen B. Penney et autres

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. The SVA retrotransposon contains a CCCTCT hexameric repeat tract of variable length, whose length is inversely correlated with age at onset. …

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

Lindsey N. Campion, Alan Mejia Maza, Rachita Yadav, Ellen B. Penney et autres

Abstract 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. The SVA retrotransposon contains a CCCTCT hexameric repeat tract of variable length, whose length is inversely correlated with age at …

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Dissection of TAF1 neuronal splicing and implications for neurodegeneration in X-linked dystonia-parkinsonism

Simona Capponi, Nadja Stöffler, Ellen B. Penney, Karen Grütz et autres

Abstract X-linked dystonia-parkinsonism (XDP) is a monogenic neurodegenerative disorder of the basal ganglia, which presents as a combination of hyperkinetic movements and parkinsonian features. The underlying genetic mechanism involves the insertion of a SINE-VNTR-Alu retrotransposon within the TAF1 gene. Interestingly, alterations of …

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Promise and challenges of dystonia brain banking: establishing a human tissue repository for studies of X-Linked Dystonia-Parkinsonism

Cara Fernandez‐Cerado, G. Paul Legarda, M. Salvie Velasco-Andrada, Abegail Aguil et autres

X-Linked Dystonia-Parkinsonism (XDP) is a neurodegenerative disease affecting individuals with ancestry to the island of Panay in the Philippines. In recent years there has been considerable progress at elucidating the genetic basis of XDP and candidate disease mechanisms in patient-derived cellular models, …

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SVA insertion in X-linked Dystonia Parkinsonism alters histone H3 acetylation associated with TAF1 gene

Tiziana Petrozziello, Amanda M. Dios, Kaly A. Mueller, Christine A. Vaine et autres

X-linked Dystonia-Parkinsonism (XDP) is a neurodegenerative disease linked to an insertion of a SINE-VNTR-Alu (SVA)-type retrotransposon within an intron of TAF1. This SVA insertion induces aberrant TAF1 splicing and partial intron retention, thereby decreasing levels of the full-length transcript. Here we sought …

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Neuroinflammation and histone H3 citrullination are increased in X-linked Dystonia Parkinsonism post-mortem prefrontal cortex

Tiziana Petrozziello, Alexandra N. Mills, Christine A. Vaine, Ellen B. Penney et autres

Neuroinflammation plays a pathogenic role in neurodegenerative diseases and recent findings suggest that it may also be involved in X-linked Dystonia-Parkinsonism (XDP) pathogenesis. Previously, fibroblasts and neuronal stem cells derived from XDP patients demonstrated hypersensitivity to TNF-α, dysregulation in NFκB signaling, and …

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