Dystonia is a clinically and genetically highly heterogeneous neurological disorder
characterized by abnormal movements and postures caused by involuntary sustained or …

Four genes associated with isolated dystonia are currently well replicated and validated.
DYT-THAP1 manifests as young-onset generalized dystonia with predominant …

Dystonia is characterized by involuntary muscle contractions. Its many forms are genetically,
phenotypically and etiologically diverse and it is unknown whether their pathogenesis …

Dystonia is a disabling disease that manifests as prolonged involuntary twisting movements.
DYT-THAP1 is an inherited form of isolated dystonia caused by mutations in THAP1 …

The Shieldin complex shields double-strand DNA breaks (DSBs) from nucleolytic resection.
Curiously, the penultimate Shieldin component, SHLD1, is one of the least abundant …

Herein, we discuss data concerning the involvement of transcription factor Yin Yang 1 (YY1)
in the development of brain diseases, highlighting mechanisms of its pathological actions …

Dystonia due to pathogenic variants in the THAP1 gene (DYT-THAP1) shows variable
expressivity and reduced penetrance of~ 50%. Since THAP1 encodes a transcription factor …

The eukaryotic cell cycle involves a highly orchestrated series of events in which the cellular
genome is replicated during a synthesis (S) phase and each of the two resulting copies are …

Genome-wide in vivo protein-DNA interactions are routinely mapped using high-throughput
chromatin immunoprecipitation (ChIP). ChIP-reported regions are typically investigated for …

Advances in sequencing technologies have identified novel genes associated with inherited
forms of dystonia, providing valuable insights into its genetic basis and revealing diverse …