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Article

Mutation in TTI2 reveals a role for triple T complex in human brain development.

Human mutation - 1 Nov 2013

Langouët Maéva, Saadi Abdelkrim, Rieunier Guillaume, Moutton Sébastien, Siquier-Pernet Karine, Fernet Marie, Nitschke Patrick, Munnich Arnold, Stern Marc-Henri, Chaouch Malika, Colleaux Laurence

Abstract excerpt

Tel2-interacting proteins 1 and 2 (TTI1 and TTI2) physically interact with telomere maintenance 2 (TEL2) to form a conserved trimeric complex called the Triple T complex. This complex is a master regulator of phosphoinositide-3-kinase-related protein kinase (PIKKs) abundance and DNA damage response signaling. Using a combination of autozygosity mapping and high-throughput sequencing in a large consanguineous...

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Source

Identifiers

PMID: 23956177
DOI: 10.1002/humu.22399

Genes

TTI2
TTI1

Variants

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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