Article

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

2021-08-05

Abstract excerpt

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 understood mutations that do not occur on residues critical for DNA binding. Here, we demonstrate that the F81L mutation (...

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Literature Corpus work: 12bceb08-59bc-5675-9049-08c05a53be0c
DOI: 10.1101/2021.08.03.454996

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