A pathogenic DYT-THAP1 dystonia mutation causes hypomyelination and loss of YY1 binding

A pathogenic DYT-THAP1 dystonia mutation causes hypomyelination and loss of YY1 binding

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 encoding the transcription factor THAP1. The phe81leu (F81L) missense mutation is representative of a category of poorly unders...

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Bibliographic Details
Main Authors: Dauer, W.T (Author), Kim, A.J (Author), Kim, S. (Author), Pappas, S.S (Author), Rogers, A.E (Author), Yellajoshyula, D. (Author)
Format: Article
Language:English
Published: NLM (Medline) 2022
Subjects:
apoptosis regulatory protein
Apoptosis Regulatory Proteins
DNA binding protein
DNA-Binding Proteins
dystonia
Dystonia
Dystonia Musculorum Deformans
dystonic disorder
Dystonic Disorders
genetics
human
Humans
metabolism
mutation
Mutation
THAP1 protein, human
torsion dystonia
transcription factor YY1
YY1 protein, human
YY1 Transcription Factor
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