Spina bifida (Homo sapiens)

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7222722222224222Folic acid shortagecatalyzationLegendinhibitionconversionMTHFRTHFFolic acid2'-Deoxycytidine 5'-monophosphate(1−) residueMTRMethionine5-MethyltetrahydrofolateSpina bifidaMTRR5,10-Methylenetetrahydrofolate5,10-MethenyltetrahydrofolateCaffeine5-Methyl dCMP(1−) residue10-FormyltetrahydrofolateMethylcobalaminDNA synthesisCell proliferationMTHFD1EthanolProtein synthesisSHMT1HomocysteineCobalamin4MethylcobalaminCobalaminTHFHomocysteineMethionineMAT1ADNMT11DNMT3bKIAA0828MAT2BS-AdenosylhomocysteineS-Adenosylmethionine1DNMT3a1AHCYLow methionine intakeAlcohol intakePhysiological changeGeneMetaboliteCellular processmovement out of a groupcausationstimulationTobacco Smoke PollutionassociationDiseaseToxin


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.

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  1. Hazra A, Wu K, Kraft P, Fuchs CS, Giovannucci EL, Hunter DJ; ''Twenty-four non-synonymous polymorphisms in the one-carbon metabolic pathway and risk of colorectal adenoma in the Nurses' Health Study.''; Carcinogenesis, 2007 PubMed Europe PMC Scholia
  2. Imbard A, Benoist JF, Blom HJ; ''Neural tube defects, folic acid and methylation.''; Int J Environ Res Public Health, 2013 PubMed Europe PMC Scholia
  3. Michiel Adriaens, Chris Evelo, Egon Willighagen, Frank, Marianthi Kalafati, Kristina Hanspers, Alexander Pico, Thomas Kelder, Denise Slenter, Txr24, Friederike Ehrhart, Egoyenechea, Eric Weitz, Garima Thakur, Jeff; ''One-Carbon metabolism (Homo Sapiens)''; https://www.wikipathways.org/index.php/Pathway:WP241,
  4. Kibar Z, Capra V, Gros P; ''Toward understanding the genetic basis of neural tube defects.''; Clin Genet, 2007 PubMed Europe PMC Scholia
  5. Blom HJ, Shaw GM, den Heijer M, Finnell RH; ''Neural tube defects and folate: case far from closed.''; Nat Rev Neurosci, 2006 PubMed Europe PMC Scholia
  6. Boch J, Kempf B, Schmid R, Bremer E; ''Synthesis of the osmoprotectant glycine betaine in Bacillus subtilis: characterization of the gbsAB genes.''; J Bacteriol, 1996 PubMed Europe PMC Scholia
  7. Sourial NA, Amess JA, Amos RJ; ''Role of S-adenosylmethionine in DNA synthesis and haemopoiesis.''; Scand J Haematol, 1985 PubMed Europe PMC Scholia


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120911view15:46, 30 January 2022XNautsGene identifiers altered from Ensemble to Entrez Gene
120910view15:02, 30 January 2022XNautsSpelling error
120878view19:12, 24 January 2022XNautsVideo improvement
120863view16:32, 21 January 2022XNautsAddition of Toxins
120862view16:04, 21 January 2022XNautsVisually differently aligned, update of Legend
120848view11:37, 19 January 2022XNautsfixing legend text
120847view11:36, 19 January 2022XNautsFurther improvement of visual aligning
120841view10:38, 18 January 2022XNautsVisual updates, legend update
120803view15:16, 10 January 2022XNautsBetter visual aligning
120802view13:29, 10 January 2022Mkutmonfix publication references
120740view15:07, 27 December 2021XNautsReference added
120739view15:04, 27 December 2021XNautsBetter summary of the endpoint of the disease
120733view10:57, 27 December 2021XNautsAddition of DNA Synthesis
120628view18:52, 21 December 2021EgonwFixed the format of a ChEBI identifier
120558view15:38, 15 December 2021XNautsDaily update with more RHEA IDs
120544view16:23, 14 December 2021XNautsDaily update
120538view12:15, 13 December 2021Fehrhartreference check
120528view15:59, 11 December 2021XNautsdaily update
120523view16:26, 10 December 2021XNautsloose node
120522view16:20, 10 December 2021XNautsDaily update
120521view16:09, 10 December 2021XNautsDaily update
120502view14:00, 9 December 2021XNautsupdate
120499view11:12, 9 December 2021XNautsDaily update
120490view19:21, 8 December 2021XNautsDaily update
120487view09:32, 8 December 2021XNautsDaily update
120472view16:17, 7 December 2021XNautsdaily update
120471view14:41, 7 December 2021XNautsModified title
120470view14:23, 7 December 2021XNautsOntology Term : 'neuroepithelial stem cell' added !
120469view14:23, 7 December 2021XNautsOntology Term : 'neural tube defect' added !
120468view14:23, 7 December 2021XNautsOntology Term : 'altered folate metabolic pathway' added !
120467view14:23, 7 December 2021XNautsOntology Term : 'spina bifida' added !
120466view08:38, 7 December 2021FehrhartOntology Term : 'folate metabolic pathway' added !
120465view07:44, 7 December 2021XNautsModified title
120462view19:37, 6 December 2021XNautsNew pathway

External references


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NameTypeDatabase referenceComment
10-FormyltetrahydrofolateMetaboliteHMDB00972 (HMDB)
2'-Deoxycytidine 5'-monophosphate(1−) residueMetaboliteCHEBI:85452 (ChEBI)
5,10-MethenyltetrahydrofolateMetaboliteCHEBI:57455 (ChEBI)
5,10-MethylenetetrahydrofolateMetaboliteCHEBI:12071 (ChEBI)
5-Methyl dCMP(1−) residueMetabolite85454 (ChEBI)
5-MethyltetrahydrofolateMetaboliteCHEBI:15641 (ChEBI)
AHCYGeneProduct191 (Entrez Gene)
Alcohol intakeFOODON:00001579 (Other)
Caffeine2519 (PubChem-compound)
Cell proliferationQ1952798 (Wikidata)
Cellular process-
CobalaminMetaboliteCHEBI:30411 (ChEBI)
DNA synthesisQ5205774 (Wikidata)
DNMT1GeneProduct1786 (Entrez Gene)
DNMT3aGeneProduct1788 (Entrez Gene)
DNMT3bGeneProduct1789 (Entrez Gene)
EthanolMetaboliteCHEBI:16236 (ChEBI)
Folic acidMetaboliteCHEBI:27470 (ChEBI)
Gene- (Ensembl)
HomocysteineMetaboliteHMDB00742 (HMDB)
KIAA0828GeneProduct23382 (Entrez Gene)
Low methionine intake
MAT1AGeneProduct4143 (Entrez Gene)
MAT2BGeneProduct27430 (Entrez Gene)
MTHFD1GeneProduct4522 (Entrez Gene)
MTHFRGeneProduct4524 (Entrez Gene)
MTRGeneProduct4548 (Entrez Gene)
MTRRGeneProduct4552 (Entrez Gene)
MethionineMetaboliteCHEBI:16643 (ChEBI)
MethylcobalaminMetaboliteHMDB02274 (HMDB)
Physiological change
Protein synthesisQ211935 (Wikidata)
S-AdenosylhomocysteineMetabolite57856 (ChEBI)
S-AdenosylmethionineMetabolite67040 (ChEBI)
SHMT1GeneProduct6470 (Entrez Gene)
Spina bifidaQ844717 (Wikidata)
THFMetaboliteCHEBI:20506 (ChEBI)
Tobacco Smoke PollutionQ66901592 (Wikidata)

Annotated Interactions

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SourceTargetTypeDatabase referenceComment
10-FormyltetrahydrofolateTHFmim-conversion20221 (Rhea)
5,10-Methenyltetrahydrofolate5-Methyltetrahydrofolatemim-conversion19817 (Rhea)
5,10-Methylenetetrahydrofolate10-Formyltetrahydrofolatemim-conversion23700 (Rhea)
5,10-Methylenetetrahydrofolate5,10-Methenyltetrahydrofolatemim-conversion22813 (Rhea)
MTRRmim-catalysis23908 (Rhea)
mim-conversion10280 (Rhea)
mim-conversion14714 (Rhea)
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