Enzymatic activity of methionine adenosyltransferase variants identified in patients with persistent hypermethioninemia. (Q42950424)

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9 February 2020

title

Enzymatic activity of methionine adenosyltransferase variants identified in patients with persistent hypermethioninemia (English)

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9 February 2020

4

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Joaquín Fernández-Irigoyen

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1

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Yin-Hsiu Chien

3

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S Harvey Mudd

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author name string

Enrique Santamaría

2

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Stanley H Korman

5

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Hanna Faghfoury

6

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9 February 2020

Andreas Schulze

7

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George E Hoganson

8

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Sally P Stabler

9

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Robert H Allen

10

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Conrad Wagner

11

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Fernando J Corrales

13

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publication date

15 July 2010

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Molecular Genetics and Metabolism

9 February 2020

published in

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volume

101

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issue

2-3

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page(s)

172-177

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S-adenosylmethionine and Pneumocystis carinii

9 February 2020

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Conformational signals in the C-terminal domain of methionine adenosyltransferase I/III determine its nucleocytoplasmic distribution

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Reduced mRNA abundance of the main enzymes involved in methionine metabolism in human liver cirrhosis and hepatocellular carcinoma

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Methionine adenosyltransferase 1A knockout mice are predisposed to liver injury and exhibit increased expression of genes involved in proliferation

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Loss of the glycine N-methyltransferase gene leads to steatosis and hepatocellular carcinoma in mice

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Demyelination of the brain is associated with methionine adenosyltransferase I/III deficiency

7 January 2021

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Normal brain myelination in a patient homozygous for a mutation that encodes a severely truncated methionine adenosyltransferase I/III.

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Methionine adenosyltransferase I/III deficiency: novel mutations and clinical variations

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Methionine adenosyltransferase I/III deficiency: two Korean compound heterozygous siblings with a novel mutation

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Allopurinol challenge tests performed before and after living-related donor liver transplantation in citrullinaemia

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Methionine adenosyltransferase (MAT) I/III deficiency with concurrent hyperhomocysteinaemia: two novel cases

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Spectrum of hypermethioninemia in neonatal screening.

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Hypermethioninemia associated with methionine adenosyltransferase deficiency: Clinical, morphologic, and biochemical observations on four patients

7 January 2021

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Redox regulation of methylthioadenosine phosphorylase in liver cells: molecular mechanism and functional implications

7 January 2021

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Biochemical basis for the dominant inheritance of hypermethioninemia associated with the R264H mutation of the MAT1A gene. A monomeric methionine adenosyltransferase with tripolyphosphatase activity

7 January 2021

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Hysteretic behavior of methionine adenosyltransferase III. Methionine switches between two conformations of the enzyme with different specific activity

7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

Identifiers

DOI

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9 February 2020

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