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Article

Targeted therapy for inherited GPI deficiency.

The New England journal of medicine - 19 Apr 2007

Almeida Antonio M, Murakami Yoshiko, Baker Alastair, Maeda Yusuke, Roberts Irene A G, Kinoshita Taroh, Layton D Mark, Karadimitris Anastasios

Abstract excerpt

Disrupted binding of the transcription factor Sp1 to the mutated promoter region of the mannosyl transferase-encoding gene PIGM causes inherited glycosylphosphatidylinositol (GPI) deficiency characterized by splanchnic vein thrombosis and epilepsy. We show that this results in histone hypoacetyla...

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Source

Identifiers

PMID: 17442906
DOI: 10.1056/NEJMoa063369

Genes

GPI
PIGM

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17442906-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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