Methionine adenosyltransferase I/III deficiency: novel mutations and clinical variations (Q28117687)

5 July 2017

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

1 reference

Methionine adenosyltransferase 1A

5 July 2017

1 reference

methionine catabolic process

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

author name string

Chamberlin ME

1

1 reference

5 July 2017

Ubagai T

2

1 reference

5 July 2017

Mudd SH

3

1 reference

5 July 2017

Thomas J

4

1 reference

5 July 2017

Pao VY

5

1 reference

5 July 2017

Nguyen TK

6

1 reference

5 July 2017

Levy HL

7

1 reference

5 July 2017

Greene C

8

1 reference

5 July 2017

Freehauf C

9

1 reference

5 July 2017

Chou JY

10

1 reference

5 July 2017

language of work or name

English

0 references

publication date

1 February 2000

1 reference

American Journal of Human Genetics

5 July 2017

1 reference

5 July 2017

66

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5 July 2017

2

1 reference

5 July 2017

347-355

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Chromosomal localization and catalytic properties of the recombinant alpha subunit of human lymphocyte methionine adenosyltransferase

5 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288087

Transsulfuration in an adult with hepatic methionine adenosyltransferase deficiency

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288087

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288087

Association of demyelination with deficiency of cerebrospinal-fluid S-adenosylmethionine in inborn errors of methyl-transfer pathway

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288087

S-adenosylmethionine synthesis: molecular mechanisms and clinical implications

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288087

Dominant inheritance of isolated hypermethioninemia is associated with a mutation in the human methionine adenosyltransferase 1A gene

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288087

Methionine adenosyltransferase: structure and function

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288087

Isolated persistent hypermethioninemia.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288087

Molecular mechanisms of an inborn error of methionine pathway. Methionine adenosyltransferase deficiency

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288087

Molecular cloning and nucleotide sequence of cDNA encoding the rat kidney S-adenosylmethionine synthetase

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288087

Genetic analysis of isolated persistent hypermethioninemia with dominant inheritance.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288087

Consensus nomenclature for the mammalian methionine adenosyltransferase genes and gene products.

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288087

Characterization of a full-length cDNA encoding human liver S-adenosylmethionine synthetase: tissue-specific gene expression and mRNA levels in hepatopathies

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288087

Complete purification and immunochemical analysis of S-adenosylmethionine synthetase from bovine brain

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288087

Persistent hypermethioninaemia with dominant inheritance.

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288087

Molecular cloning and developmental expression of a human kidney S-adenosylmethionine synthetase.

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288087

S-Adenosylmethionine; a new intermediate formed enzymatically from L-methionine and adenosinetriphosphate.

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288087

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

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288087

Labile methyl balances for normal humans on various dietary regimens

27 November 2018

1 reference

12 December 2020

Activation of methionine for transmethylation. V. The mechanism of action of the methionine-activating enzyme

1 reference

12 December 2020

[Still another cause of hypermethioninemia in children: S-adenosylmethionine synthetase deficiency]

1 reference

12 December 2020

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

1 reference

12 December 2020

S-Adenosylmethionine synthetase from human lymphocytes. Purification and characterization

1 reference

12 December 2020

Abnormal methionine adenosyltransferase in hypermethioninemia

1 reference

12 December 2020

Identifiers

DOI

10.1086/302752

1 reference

5 July 2017

1 reference

5 July 2017

1 reference