Disorders of NAD metabolism (Homo sapiens)

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Description

Disorders of Niacin and NAD Metabolism

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Quality Tags

Ontology Terms

 

Bibliography

  1. Manor J, Calame D, Gijavanekar C, Fisher K, Hunter J, Mizerik E, Bacino C, Scaglia F, Elsea SH; ''NAXE deficiency: A neurometabolic disorder of NAD(P)HX repair amenable for metabolic correction.''; Mol Genet Metab, 2022 PubMed Europe PMC Scholia
  2. Van Bergen NJ, Guo Y, Rankin J, Paczia N, Becker-Kettern J, Kremer LS, Pyle A, Conrotte JF, Ellaway C, Procopis P, Prelog K, Homfray T, Baptista J, Baple E, Wakeling M, Massey S, Kay DP, Shukla A, Girisha KM, Lewis LES, Santra S, Power R, Daubeney P, Montoya J, Ruiz-Pesini E, Kovacs-Nagy R, Pritsch M, Ahting U, Thorburn DR, Prokisch H, Taylor RW, Christodoulou J, Linster CL, Ellard S, Hakonarson H; ''NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses.''; Brain, 2019 PubMed Europe PMC Scholia
  3. Szot JO, Campagnolo C, Cao Y, Iyer KR, Cuny H, Drysdale T, Flores-Daboub JA, Bi W, Westerfield L, Liu P, Leung TN, Choy KW, Chapman G, Xiao R, Siu VM, Dunwoodie SL; ''Bi-allelic Mutations in NADSYN1 Cause Multiple Organ Defects and Expand the Genotypic Spectrum of Congenital NAD Deficiency Disorders.''; Am J Hum Genet, 2020 PubMed Europe PMC Scholia
  4. Nenad Blau, Carlo Dionisi Vici, Carlos R. Ferreira, Christine Vianey-Saban, Clara D. M. van Karnebeek; ''Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases''; , 2022 PubMed Europe PMC Scholia
  5. Acheson SA, Kirkman HN, Wolfenden R; ''Equilibrium of 5,6-hydration of NADH and mechanism of ATP-dependent dehydration.''; Biochemistry, 1988 PubMed Europe PMC Scholia

History

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CompareRevisionActionTimeUserComment
136162view16:49, 20 December 2024MareknogaFixing some of the missing annotations
136155view14:21, 20 December 2024Mareknogapushing unsaved changes
136143view16:40, 19 December 2024Mareknogastarted working on the NAD consumption and salvage
136124view14:13, 19 December 2024MareknogaNADSYN added
136122view13:20, 19 December 2024MareknogaUpdate structures and literature
136119view12:35, 19 December 2024EgonwOntology Term : 'disease pathway' added !
136118view12:20, 19 December 2024MareknogaModified title
136117view12:14, 19 December 2024MareknogaNew pathway

External references

DataNodes

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NameTypeDatabase referenceComment
(R)-NADHXMetaboliteCHEBI:134125 (ChEBI)
(S)-NADHXMetaboliteCHEBI:44236 (ChEBI)
NAD(+)MetaboliteCHEBI:15846 (ChEBI)
NAD(P)HX

DEHYDRATASE

GeneProductENSG00000213995 (Ensembl)
NAD(P)HX epimerase GeneProductENSG00000163382 (Ensembl)
NADHMetaboliteCHEBI:16908 (ChEBI)
Spontaneous
cyclo-NADHXMetaboliteXHATZBPBVXWMQQ-GGFUHNOESA-N (InChIKey) SMILES NC(=O)C1=CN2C(CC1)OC1C2O[C@H](COP(=O)(O)OP(=O)(O)OC[C@H]2O[C@@H](n3cnc4c(N)ncnc43)[C@H](O)[C@@H]2O)[C@H]1O

Annotated Interactions

No annotated interactions

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