Spina bifida (WP5150)
Homo sapiens
Pathway under construction to explain how Spina Bifida occurs during development. Many genes in the pathway are known risk factors for Spina Bifida. The current theory suggests that the shortage of nucleotides in neuroepithelial cells slows the cellular replication leading to a 'retarded' neural fold development.
Authors
XNauts , Friederike Ehrhart , Egon Willighagen , and Martina Summer-KutmonActivity
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Cited In
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Organisms
Homo sapiensCommunities
Rare DiseasesAnnotations
Disease Ontology
spina bifida neural tube defectCell Type Ontology
neuroepithelial stem cellPathway Ontology
folate metabolic pathway altered folate metabolic pathwayLabel | Type | Compact URI | Comment |
---|---|---|---|
Folic acid | Metabolite | chebi:27470 | |
10-Formyltetrahydrofolate | Metabolite | hmdb:HMDB00972 | |
5,10-Methenyltetrahydrofolate | Metabolite | chebi:57455 | |
THF | Metabolite | chebi:20506 | |
Cobalamin | Metabolite | chebi:30411 | |
Ethanol | Metabolite | chebi:16236 | |
Homocysteine | Metabolite | hmdb:HMDB00742 | |
5,10-Methylenetetrahydrofolate | Metabolite | chebi:12071 | |
Methionine | Metabolite | chebi:16643 | |
2'-Deoxycytidine 5'-monophosphate(1−) residue | Metabolite | chebi:85452 | |
Methylcobalamin | Metabolite | hmdb:HMDB02274 | |
5-Methyl dCMP(1−) residue | Metabolite | chebi:85454 | |
5-Methyltetrahydrofolate | Metabolite | chebi:15641 | |
Methylcobalamin | Metabolite | hmdb:HMDB02274 | |
Cobalamin | Metabolite | chebi:30411 | |
THF | Metabolite | chebi:20506 | |
Homocysteine | Metabolite | hmdb:HMDB00742 | |
Methionine | Metabolite | chebi:16643 | |
S-Adenosylhomocysteine | Metabolite | chebi:57856 | |
S-Adenosylmethionine | Metabolite | chebi:67040 | |
MTR | GeneProduct | ncbigene:4548 | |
MTHFR | GeneProduct | ncbigene:4524 | |
SHMT1 | GeneProduct | ncbigene:6470 | |
MTHFD1 | GeneProduct | ncbigene:4522 | |
MTRR | GeneProduct | ncbigene:4552 | |
MAT1A | GeneProduct | ncbigene:4143 | |
DNMT1 | GeneProduct | ncbigene:1786 | |
DNMT3b | GeneProduct | ncbigene:1789 | |
KIAA0828 | GeneProduct | ncbigene:23382 | |
MAT2B | GeneProduct | ncbigene:27430 | |
DNMT3a | GeneProduct | ncbigene:1788 | |
AHCY | GeneProduct | ncbigene:191 |
References
- Role of S-adenosylmethionine in DNA synthesis and haemopoiesis. Sourial NA, Amess JA, Amos RJ. Scand J Haematol. 1985 Apr;34(4):303–7. PubMed Europe PMC Scholia
- Twenty-four non-synonymous polymorphisms in the one-carbon metabolic pathway and risk of colorectal adenoma in the Nurses’ Health Study. Hazra A, Wu K, Kraft P, Fuchs CS, Giovannucci EL, Hunter DJ. Carcinogenesis. 2007 Jul;28(7):1510–9. PubMed Europe PMC Scholia
- Toward understanding the genetic basis of neural tube defects. Kibar Z, Capra V, Gros P. Clin Genet. 2007 Apr;71(4):295–310. PubMed Europe PMC Scholia
- Neural tube defects, folic acid and methylation. Imbard A, Benoist JF, Blom HJ. Int J Environ Res Public Health. 2013 Sep 17;10(9):4352–89. PubMed Europe PMC Scholia