Mutation Update and Review of Severe Methylenetetrahydrofolate Reductase Deficiency. (Q38731635)

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7 March 2020

title

Mutation Update and Review of Severe Methylenetetrahydrofolate Reductase Deficiency (English)

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methylenetetrahydrofolate reductase deficiency

7 March 2020

main subject

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author

D. Sean Froese

1

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7 March 2020

Martina Huemer

2

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7 March 2020

David Coelho

5

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7 March 2020

Markus Andreas Landolt

7

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7 March 2020

Viktor Kožich

8

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7 March 2020

author name string

Terttu Suormala

3

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7 March 2020

Patricie Burda

4

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7 March 2020

Jean-Louis Guéant

6

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7 March 2020

Brian Fowler

9

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7 March 2020

Matthias R Baumgartner

10

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7 March 2020

publication date

18 March 2016

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7 March 2020

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7 March 2020

volume

37

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7 March 2020

page(s)

427-438

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7 March 2020

issue

5

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Acute leukoencephalopathy possibly induced by phenytoin intoxication in an adult patient with methylenetetrahydrofolate reductase deficiency.

7 March 2020

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Cerebral edema associated with betaine treatment in classical homocystinuria

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Survival and psychomotor development with early betaine treatment in patients with severe methylenetetrahydrofolate reductase deficiency

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Life-threatening methylenetetrahydrofolate reductase (MTHFR) deficiency with extremely early onset: characterization of two novel mutations in compound heterozygous patients

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A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase

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ESPript/ENDscript: Extracting and rendering sequence and 3D information from atomic structures of proteins

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Gene structure of human and mouse methylenetetrahydrofolate reductase (MTHFR)

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Human methylenetetrahydrofolate reductase: isolation of cDNA, mapping and mutation identification

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The structure and properties of methylenetetrahydrofolate reductase from Escherichia coli suggest how folate ameliorates human hyperhomocysteinemia

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Betaine for treatment of homocystinuria caused by methylenetetrahydrofolate reductase deficiency

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Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines

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Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency

21 January 2018

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Cerebral folate deficiency

21 January 2018

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Infertility in 5,10-methylenetetrahydrofolate reductase (MTHFR)-deficient male mice is partially alleviated by lifetime dietary betaine supplementation

21 January 2018

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Increased susceptibility to mild neonatal stress in MTHFR deficient mice.

21 January 2018

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Congenital MTHFR deficiency causing early-onset cerebral stroke in a case homozygous for MTHFR thermolabile variant.

21 January 2018

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Identification of four novel mutations in severe methylenetetrahydrofolate reductase deficiency.

21 January 2018

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Complete deficiency of methylenetetrahydrofolate reductase in mice is associated with impaired retinal function and variable mortality, hematological profiles, and reproductive outcomes.

21 January 2018

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Functional Role for the Conformationally Mobile Phenylalanine 223 in the Reaction of Methylenetetrahydrofolate Reductase from Escherichia coli

21 January 2018

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Mefolinate (5-methyltetrahydrofolate), but not folic acid, decreases mortality in an animal model of severe methylenetetrahydrofolate reductase deficiency

21 January 2018

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Severe methylenetetrahydrofolate reductase deficiency: clinical clues to a potentially treatable cause of adult-onset hereditary spastic paraplegia.

21 January 2018

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21 January 2018

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Psychosis, paraplegia and coma revealing methylenetetrahydrofolate reductase deficiency in a 56-year-old woman.

21 January 2018

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Homocystinuria associated with decreased methylenetetrahydrofolate reductase activity

21 January 2018

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21 January 2018

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Structures of NADH and CH3-H4folate complexes of Escherichia coli methylenetetrahydrofolate reductase reveal a spartan strategy for a ping-pong reaction

21 January 2018

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Betaine rescue of an animal model with methylenetetrahydrofolate reductase deficiency

21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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Characterization of mutations in severe methylenetetrahydrofolate reductase deficiency reveals an FAD-responsive mutation

21 January 2018

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Determinants of the essential one-carbon metabolism metabolites, homocysteine, S-adenosylmethionine, S-adenosylhomocysteine and folate, in cerebrospinal fluid.

21 January 2018

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Altered protein phosphatase 2A methylation and Tau phosphorylation in the young and aged brain of methylenetetrahydrofolate reductase (MTHFR) deficient mice

21 January 2018

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Prevention of brain disease from severe 5,10-methylenetetrahydrofolate reductase deficiency.

21 January 2018

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

21 January 2018

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Impact of new mutations in the methylenetetrahydrofolate reductase gene assessed on biochemical phenotypes: a familial study

21 January 2018

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Severe methylenetetrahydrofolate reductase deficiency revealed by a pulmonary embolism in a young adult

21 January 2018

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Relations between molecular and biological abnormalities in 11 families from siblings affected with methylenetetrahydrofolate reductase deficiency

21 January 2018

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Two-tier approach to the newborn screening of methylenetetrahydrofolate reductase deficiency and other remethylation disorders with tandem mass spectrometry

21 January 2018

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Multiple transcription start sites and alternative splicing in the methylenetetrahydrofolate reductase gene result in two enzyme isoforms

21 January 2018

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5,10-Methylenetetrahydrofolate reductase deficiency with progressive polyneuropathy in an infant.

21 January 2018

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Molecular characterization of five patients with homocystinuria due to severe methylenetetrahydrofolate reductase deficiency.

21 January 2018

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Homocystinuria due to 5,10-methylenetetra-hydrofolate reductase deficiency revealed by stroke in adult siblings

21 January 2018

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Progressive cerebral edema associated with high methionine levels and betaine therapy in a patient with cystathionine beta-synthase (CBS) deficiency

21 January 2018

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Effects of common polymorphisms on the properties of recombinant human methylenetetrahydrofolate reductase

21 January 2018

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Regulation of human methylenetetrahydrofolate reductase by phosphorylation

21 January 2018

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Mutations of the MTHFR gene (428C>T and [458G>T+459C>T]) markedly decrease MTHFR enzyme activity

21 January 2018

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MTHFR promotes heterochromatin maintenance

21 January 2018

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Rapid diagnosis and methionine administration: basis for a favourable outcome in a patient with methylene tetrahydrofolate reductase deficiency

21 January 2018

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7 January 2021

Psychotic symptoms in severe MTHFR deficiency and their successful treatment with betaine

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7 January 2021

Methylenetetrahydrofolate reductase (MTHFR) deficiency presenting as a rash

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7 January 2021

Mice deficient in methylenetetrahydrofolate reductase exhibit tissue-specific distribution of folates

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7 January 2021

The thermolabile variant 677C-->T can further reduce activity when expressed in cis with severe mutations for human methylenetetrahydrofolate reductase

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7 January 2021

Methylenetetrahydrofolate reductase (MR) deficiency: thermolability of residual MR activity, methionine synthase activity, and methylcobalamin levels in cultured fibroblasts

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7 January 2021

Intermediate hyperhomocysteinaemia and compound heterozygosity for the common variant c.677C>T and a MTHFR gene mutation

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7 January 2021

Homocysteine-betaine interactions in a murine model of 5,10-methylenetetrahydrofolate reductase deficiency

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7 January 2021

Characterization of six novel mutations in the methylenetetrahydrofolate reductase (MTHFR) gene in patients with homocystinuria

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7 January 2021

[Posterior-predominant leukoencephalopathy which was caused by methylenetetrahydrofolate reductase deficiency and successfully treated with folic acid]

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7 January 2021

Methylenetetrahydrofolate reductase deficiency in four siblings: a clinical, biochemical, and molecular study of the family

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7 January 2021

Identifiers

DOI

10.1002/HUMU.22970

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26872964%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

1 reference