Ontology highlight
ABSTRACT:
SUBMITTER: Besse A
PROVIDER: S-EPMC4757431 | biostudies-literature | 2015 Mar
REPOSITORIES: biostudies-literature
Besse Arnaud A Wu Ping P Bruni Francesco F Donti Taraka T Graham Brett H BH Craigen William J WJ McFarland Robert R Moretti Paolo P Lalani Seema S Scott Kenneth L KL Taylor Robert W RW Bonnen Penelope E PE
Cell metabolism 20150301 3
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 describe a family with encephalomyopathic MDS caused by a homozygous missense mutation in ABAT that results in elevated GABA in subjects' br ...[more]