Associated Papers
Biochemical investigation of pathogenic missense mutations of human 4-amino butyrate aminotransferase towards the understanding of the molecular pathogenesis of GABA transaminase deficiency.
Ambrosini G et al.
Molecular Genetics and Metabolism, 2025
Computational Exploration of the Effects of Mutations on GABA Aminotransferase in GABA Aminotransferase Deficiency.
Yasir M et al.
International Journal of Molecular Sciences, 2023
Sources of discordance among germ-line variant classifications in ClinVar.
Yang S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
28569743 (PubMed )
Supplement: gim201760x7.xlsx › table_all_ExAC_consensus_Oct201
Personalized medicine approach confirms a milder case of ABAT deficiency.
Besse A et al.
Molecular Brain, 2016
Phenotyping GABA transaminase deficiency: a case description and literature review.
Louro P et al.
Journal of Inherited Metabolic Disease, 2016
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
25670805 (PubMed )
Supplement: supp_M114.043083_mcp.M114.043083-16.xlsx › TableS9A
The GABA transaminase, ABAT, is essential for mitochondrial nucleoside metabolism.
Besse A et al.
Cell Metabolism, 2015
Disorders of GABA metabolism: SSADH and GABA-transaminase deficiencies.
Parviz M et al.
Journal of Pediatric Epilepsy, 2014
A new case of GABA transaminase deficiency facilitated by proton MR spectroscopy.
Tsuji M et al.
Journal of Inherited Metabolic Disease, 2010
Identification of a familial mutation associated with GABA-transaminase deficiency disease.
Medina-Kauwe LK et al.
Neurobiology of Disease, 1998
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