Targeted Therapy for Inherited GPI Deficiency  

Oleh:

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

Jenis: Article from Journal - ilmiah internasional
Dalam koleksi: The New England Journal of Medicine (keterangan: ada di Proquest) vol. 356 no. 16 (Apr. 2007), page 1641.

Ketersediaan

Perpustakaan FK Nomor Panggil: N08.K.2007.02 Non-tandon: 1 (dapat dipinjam: 0) Tandon: tidak ada

Lihat Detail Induk

Isi artikel

Disrupted binding of the transcription factor Spl 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 Spl-dependent manner. More important, the drug caused complete cessation of intractable seizures in a child with inherited GPI deficiency.

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