The GABA transaminase, ABAT, is essential for mitochondrial nucleoside metabolism.


ABAT is a key enzyme responsible for catabolism of principal inhibitory neurotransmitter γ-aminobutyric acid (GABA). We report an essential role for ABAT in a seemingly unrelated pathway, mitochondrial nucleoside salvage, and demonstrate that mutations in this enzyme cause an autosomal recessive neurometabolic disorder and mtDNA depletion syndrome (MDS). We… (More)
DOI: 10.1016/j.cmet.2015.02.008

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