| Literature DB >> 17442906 |
Antonio M Almeida1, Yoshiko Murakami, Alastair Baker, Yusuke Maeda, Irene A G Roberts, Taroh Kinoshita, D Mark Layton, Anastasios Karadimitris.
Abstract
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 hypoacetylation at the promoter of PIGM. The histone deacetylase inhibitor butyrate increases PIGM transcription and surface GPI expression in vitro as well as in vivo through enhanced histone acetylation in an Sp1-dependent manner. More important, the drug caused complete cessation of intractable seizures in a child with inherited GPI deficiency. Copyright 2007 Massachusetts Medical Society.Entities:
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Year: 2007 PMID： 17442906 DOI： 10.1056/NEJMoa063369
Source DB: PubMed Journal: N Engl J Med ISSN： 0028-4793 Impact factor: 91.245