Is mutated serine hydroxymethyltransferase (SHMT) involved in the etiology of neural tube defects?

Molecular Genetics and Metabolism

Volumn 73, Issue 2, 2001, Pages 164-172

  Heil, Sandra G ^a   Van Der Put, Nathalie M J ^a   Waas, Erwin T ^a   Den Heijer, Martin ^b   Trijbels, Frans J M ^a   Blom, Henk J ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b Department of Medicine   (Netherlands)

Author keywords

Folate; Homocysteine (Hcy); Mutation; Neural tube defects (NTD); Plasma folate; RBC folate; Serine hydroxymethyltransferase (SHMT); SSCP

Indexed keywords

FOLIC ACID; GLYCINE; GLYCINE HYDROXYMETHYLTRANSFERASE; HOMOCYSTEINE; ISOENZYME; METHYLENETETRAHYDROFOLIC ACID; SERINE; TETRAHYDROFOLIC ACID;

ADOLESCENT; ADULT; AMINO ACID BLOOD LEVEL; AMINO ACID METABOLISM; ARTICLE; CHILD; CONTROLLED STUDY; DISEASE ASSOCIATION; DNA POLYMORPHISM; FEMALE; FOLIC ACID BLOOD LEVEL; GENE MUTATION; GENETIC ANALYSIS; GENETIC RISK; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; NEURAL TUBE DEFECT; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM;

EID: 0034968527     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1006/mgme.2001.3175     Document Type: Article

References (32)

1. Prevention of neural tube defects results of the Medical Research Council vitamin study
2. Prevention of the first occurrence of neural-tube defects by periconceptional vitamin supplementation
3. Maternal plasma folate and vitamin B12 are independent risk factors for neural tube defects
4. Maternal hyperhomocysteinemia: A risk factor for neural-tube defects?
5. Decreased methylene tetrahydrofolate reductase activity due to the 677C->T mutation in families with spina bifida offspring
6. Homocysteine metabolism in pregnancies complicated by neural-tube defects
7. Mutated methylenetetrahydrofolate reductase as a risk factor for spina bifida
8. A genetic defect in 5,10 methylenetetrahydrofolate reductase in neural tube defects
9. Is the common 677C>T mutation in the methylenetetrahydrofolate reductase gene a risk factor for neural tube defects? A meta-analysis
10. A second common mutation in the methylenetetrahydrofolate reductase gene: An additional risk factor for neural tube defects?
11. A second genetic polymorphism in methylenetetrahydrofolate reductase (MTHFR) associated with decreased enzyme activity
12. Sequence analysis of the coding region of human methionine synthase: Relevance to hyper-homocysteinaemia in neural-tube defects and vascular disease
13. Methionine synthase D919G polymorphism is a significant but modest determinant of circulating homocysteine concentrations
14. A common variant in methionine synthase reductase combined with low cobalamin (vitamin B12) increases risk for spina bifida
15. Are common mutations of cystathionine beta-synthase involved in the aetiology of neural tube defects?
16. Betaine-homocysteine methyltransferase (BHMT): Genomic sequencing and relevance to hyperhomocysteinemia and vascular disease in humans
17. Molecular genetic analysis of the human trifunctional enzyme MTHFD (methylenetetrahydrofolate dehydrogenase-methenyltetrahydrofolate cyclohydrolase-formylt etrahydro folate synthetase) in the etiology of neural tube defects
18. Purification and properties of mitochondrial serine hydroxymethyltransferase
19. Folylpolyglutamate synthesis and role in the regulation of one-carbon metabolism
20. 3] serine allows in vivo kinetic measurement of serine turnover, homocysteine remethylation, and transsulfuration processes in human one-carbon metabolism
21. Cloning of human cDNAs encoding mitochondrial and cytosolic serine hydroxymethyltransferases and chromosomal localization
22. Molecular cloning, characterization, and regulation of the human mitochondrial serine hydroxymethyltransferase gene
23. Molecular cloning, characterization and alternative splicing of the human cytoplasmic serine hydroxymethyltransferase gene
24. Nucleotide sequence, chromosome localization, and evolutionary conservation of a serine hydroxymethyltransferase-processed pseudogene
25. Is hyperhomocysteinaemia a risk factor for recurrent venous thrombosis?
26. Molecular genetic analysis of human folate receptors in neural tube defects
27. Single-step method of RNA isolation by acid quanidinium thiocyanate-phenol-chloroform extraction
28. A simple salting out procedure for extracting DNA from human nucleated cells
29. Detection of polymorphisms of human DNA by gel-electrophoresis as single-strand conformation polynlorphisms
30. Three different methods for the determination of total homocysteine in plasma
31. Maternal hyperhomocysteinemia: A risk factor for neural-tube defects?
32. Haploinsufficiency of cytosolic serine hydroxymethyltransferase in the Smith-Magenis syndrome