Journal article

Targeting of the ETS factor GABPalpha disrupts neuromuscular junction synaptic function.

Debra A O'Leary, Peter G Noakes, Nick A Lavidis, Ismail Kola, Paul J Hertzog, Sika Ristevski

Mol Cell Biol | Published : 2007

Abstract

The GA-binding protein (GABP) transcription factor has been shown in vitro to regulate the expression of the neuromuscular proteins utrophin, acetylcholine esterase, and acetylcholine receptor subunits delta and epsilon through the N-box promoter motif (5'-CCGGAA-3'), but its in vivo function remains unknown. A single point mutation within the N-box of the gene encoding the acetylcholine receptor epsilon subunit has been identified in several patients suffering from postsynaptic congenital myasthenic syndrome, implicating the GA-binding protein in neuromuscular function and disease. Since conventional gene targeting results in an embryonic-lethal phenotype, we used conditional targeting to i..

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University of Melbourne Researchers