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Article

Mutations in TAF8 cause a neurodegenerative disorder.

Brain : a journal of neurology - 14 Sept 2022

Wong Keit Men, Jepsen Wayne M, Efthymiou Stephanie, Salpietro Vincenzo, Sanchez-Castillo Meredith, Yip Janice, Kriouile Yamna, Diegmann Susann, Dreha-Kulaczewski Steffi, Altmüller Janine, Thiele Holger, Nürnberg Peter, Toosi Mehran Beiraghi, Akhondian Javad, Ghayoor Karimiani Ehsan, Hummel-Abmeier Hannah, Huppke Brenda, Houlden Henry, Gärtner Jutta, Maroofian Reza, Huppke Peter

Abstract excerpt

TAF8 is part of the transcription factor II D complex, composed of the TATA-binding protein and 13 TATA-binding protein-associated factors (TAFs). Transcription factor II D is the first general transcription factor recruited at promoters to assemble the RNA polymerase II preinitiation complex. So far disorders related to variants in 5 of the 13 subunits of human transcription factor II D have been described....

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Identifiers

PMID: 35759269
DOI: 10.1093/brain/awac154

Provenance

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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