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Article

TFIIH-p52ΔC defines a ninth xeroderma pigmentosum complementation-group XP-J and restores TFIIH stability to p8-defective trichothiodystrophy.

The Journal of clinical investigation - 17 Nov 2025

Nakazawa Yuka, Ye Lin, Oka Yasuyoshi, Morinaga Hironobu, Kato Kana, Shimada Mayuko, Tsukada Kotaro, Tsujikawa Koyo, Nishio Yosuke, Fassihi Hiva, Mohammed Shehla, Lehmann Alan R, Ogi Tomoo

Abstract excerpt

Few drugs are available for rare diseases due to economic disincentives. However, tailored medications for extremely rare disorders (N-of-1) offer a ray of hope. Artificial antisense oligonucleotides (ASOs) are now best known for their use in spinal muscular atrophy (SMA). The success of nusinersen/Spinraza for SMA indicates the potential of ASO therapies for other rare conditions. We propose a strategy to...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 40924495
DOI: 10.1172/JCI195732
PMCID: PMC12618060

Genes

GTF2H4
GTF2H5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

TFIIH-p52ΔC defines a ninth xeroderma pigmentosum complementation-group XP-J and restores TFIIH stability to p8-defective trichothiodystrophy.PMID 40924495Read ↗

Structural basis for group A trichothiodystrophy.Semantic proximity Read ↗

A history of TFIIH: two decades of molecular biology on a pivotal transcription/repair factor.Semantic proximity Read ↗

Trichothiodystrophy: from basic mechanisms to clinical implications.Semantic proximity Read ↗

Disruption of TTDA results in complete nucleotide excision repair deficiency and embryonic lethality.Semantic proximity Read ↗

Neurological defects in trichothiodystrophy reveal a coactivator function of TFIIH.Semantic proximity Read ↗

Trichothiodystrophy type 3 with a mutation in the GTF2H5 gene: A case report in Argentina.Semantic proximity Read ↗

<i>C. elegans</i> TFIIH subunit GTF-2H5/TTDA is a non-essential transcription factor indispensable for DNA repairSemantic proximity Read ↗

Mutations in XPD helicase prevent its interaction and regulation by p44, another subunit of TFIIH, resulting in Xeroderma pigmentosum (XP) and trichothiodystrophy (TTD) phenotypes.Semantic proximity Read ↗

Ribosomal Dysfunction Is a Common Pathomechanism in Different Forms of Trichothiodystrophy.Semantic proximity Read ↗

Trichothiodystrophy causative TFIIEβ mutation affects transcription in highly differentiated tissue.Semantic proximity Read ↗

The Role of TFIIH Complex in Nucleotide Excision RepairSemantic proximity Read ↗

Trichothiodystrophy: Molecular insights and mechanisms of pathogenicity.Semantic proximity Read ↗

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