(Q24316931)

Methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1

title

Characterization and review of MTHFD1 deficiency: four new patients, cellular delineation and response to folic and folinic acid treatment (English)

0 references

main subject

1 reference

methionine biosynthetic process

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

16

D S Froese

D S

Froese

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25633902%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Matthias R Baumgartner

17

M R Baumgartner

M R

Baumgartner

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25633902%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

P Burda

1

P

Burda

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25633902%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

A Kuster

2

A

Kuster

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25633902%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

O Hjalmarson

3

O

Hjalmarson

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25633902%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

T Suormala

4

T

Suormala

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25633902%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

C Bürer

5

C

Bürer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25633902%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

S Lutz

6

S

Lutz

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25633902%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

G Roussey

7

G

Roussey

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25633902%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

L Christa

8

L

Christa

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25633902%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

J Asin-Cayuela

9

J

Asin-Cayuela

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25633902%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

G Kollberg

10

G

Kollberg

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25633902%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

B A Andersson

11

B A

Andersson

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25633902%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

D Watkins

12

D

Watkins

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25633902%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

D S Rosenblatt

13

D S

Rosenblatt

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25633902%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

B Fowler

14

B

Fowler

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25633902%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

E Holme

15

E

Holme

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25633902%20AND%20SRC:MED&resulttype=core&format=json

Journal of Inherited Metabolic Disease

1 June 2020

language of work or name

English

0 references

publication date

September 2015

0 references

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25633902%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

volume

38

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25633902%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

issue

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25633902%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

page(s)

863-872

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25633902%20AND%20SRC:MED&resulttype=core&format=json

A method and server for predicting damaging missense mutations

1 June 2020

cites work

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9810-3

A Polymorphism, R653Q, in the Trifunctional Enzyme Methylenetetrahydrofolate Dehydrogenase/Methenyltetrahydrofolate Cyclohydrolase/Formyltetrahydrofolate Synthetase Is a Maternal Genetic Risk Factor for Neural Tube Defects

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9810-3

The MTHFD1 p.Arg653Gln variant alters enzyme function and increases risk for congenital heart defects

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9810-3

Multiple sequence alignment with hierarchical clustering

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9810-3

Study of MTHFR and MS polymorphisms as risk factors for NTD in the Italian population

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9810-3

Mitochondrial NAD-dependent methylenetetrahydrofolate dehydrogenase-methenyltetrahydrofolate cyclohydrolase is essential for embryonic development

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9810-3

Quantitative flux analysis reveals folate-dependent NADPH production.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9810-3

Folate-mediated one-carbon metabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9810-3

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9810-3

Characterization of functional domains of the cblD (MMADHC) gene product

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9810-3

Severe combined immunodeficiency resulting from mutations in MTHFD1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9810-3

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9810-3

Fast and accurate short read alignment with Burrows-Wheeler transform

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9810-3

The Sequence Alignment/Map format and SAMtools

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9810-3

Mthfd1 is an essential gene in mice and alters biomarkers of impaired one-carbon metabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9810-3

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9810-3

Deletion of Mthfd1l causes embryonic lethality and neural tube and craniofacial defects in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9810-3

Structures of three inhibitor complexes provide insight into the reaction mechanism of the human methylenetetrahydrofolate dehydrogenase/cyclohydrolase

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9810-3

118 SNPs of folate-related genes and risks of spina bifida and conotruncal heart defects

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9810-3

Association of polymorphisms in one-carbon metabolism genes and postmenopausal breast cancer incidence

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9810-3

The cblD defect causes either isolated or combined deficiency of methylcobalamin and adenosylcobalamin synthesis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9810-3

Compartmentalization of Mammalian folate-mediated one-carbon metabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9810-3

Polymorphisms of MTHFD, plasma homocysteine levels, and risk of gastric cancer in a high-risk Chinese population.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9810-3

Update and new concepts in vitamin responsive disorders of folate transport and metabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9810-3

Novel inborn error of folate metabolism: identification by exome capture and sequencing of mutations in the MTHFD1 gene in a single proband

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9810-3

Confirmation of the R653Q polymorphism of the trifunctional C1-synthase enzyme as a maternal risk for neural tube defects in the Irish population

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9810-3

Methionine and serine formation in control and mutant human cultured fibroblasts: evidence for methyl trapping and characterization of remethylation defects

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25633902

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

5,10-Methylenetetrahydrofolate reductase (MTHFR) assay in the forward direction: residual activity in MTHFR deficiency.

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25633902

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Rapid prenatal and postnatal detection of inborn errors of propionate, methylmalonate, and cobalamin metabolism: a sensitive assay using cultured cells

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25633902

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1007/S10545-015-9810-3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25633902%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

1 June 2020

1031417119

0 references

Fatcat ID

release_mec2jbciovafnfna7pgpdzhhaq

0 references

1 reference