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Article

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

Human molecular genetics - 31 Mar 2022

Yellajoshyula Dhananjay, Rogers Abigail E, Kim Audrey J, Kim Sumin, Pappas Samuel S, Dauer William T

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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Source

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Identifiers

PMID: 34686877
DOI: 10.1093/hmg/ddab310
PMCID: PMC8976427

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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