Associated Papers
Hypermethioninemia due to methionine adenosyltransferase I/III deficiency and brain damage.
Ma X et al.
Bmc Pediatrics, 2024
Long-term prognosis of 35 patients with methionine adenosyltransferase deficiency based on newborn screening in China.
Tong F et al.
Frontiers in Cell and Developmental Biology, 2022
36704196 (PubMed )
Supplement: DataSheet1.PDF
Polar Interactions at the Dimer-Dimer Interface of Methionine Adenosyltransferase MAT I Control Tetramerization.
Sánchez-Pérez GF et al.
International Journal of Molecular Sciences, 2021
Structural basis of the dominant inheritance of hypermethioninemia associated with the Arg264His mutation in the MAT1A gene.
Panmanee J et al.
Acta Crystallographica. Section D, Structural Biology, 2020
Determination of Autosomal Dominant or Recessive Methionine Adenosyltransferase I/III Deficiencies Based on Clinical and Molecular Studies.
Kim YM et al.
Molecular Medicine (cambridge, Mass.), 2016
Mudd's disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotes.
Chien YH et al.
Orphanet Journal of Rare Diseases, 2015
Spectrum of mutations associated with methionine adenosyltransferase I/III deficiency among individuals identified during newborn screening in Japan.
Nagao M et al.
Molecular Genetics and Metabolism, 2013
Insight into S-adenosylmethionine biosynthesis from the crystal structures of the human methionine adenosyltransferase catalytic and regulatory subunits.
Shafqat N et al.
The Biochemical Journal, 2013
23425511 (PubMed )
Supplement: bj4520027add.pdf
Methionine adenosyltransferase I/III deficiency: neurological manifestations and relevance of S-adenosylmethionine.
Furujo M et al.
Molecular Genetics and Metabolism, 2012
Reversible white matter lesion in methionine adenosyltransferase I/III deficiency.
Tada H et al.
Ajnr. American Journal of Neuroradiology, 0
Enzymatic activity of methionine adenosyltransferase variants identified in patients with persistent hypermethioninemia.
Fernández-Irigoyen J et al.
Molecular Genetics and Metabolism, 0
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