Reactome: A Curated Pathway Database

Query author contributions in Reactome

Reactome depends on collaboration between our curation team and outside experts to assemble and peer-review its pathway modules. The integration of ORCID within Reactome enables us to meet a key challenge with authoring, curating and reviewing biological information by incentivizing and crediting the external experts that contribute their expertise and time to the Reactome curation process. More information is available at ORCID and Reactome.

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Pathways reviewed by Watkins, D (517427)

DB_ID Name
3296482 Defects in vitamin and cofactor metabolism
3296469 Defects in cobalamin (B12) metabolism
3359475 Defective MMAA causes methylmalonic aciduria type cblA
3359474 Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC
3359473 Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD
3359478 Defective MUT causes methylmalonic aciduria mut type
3359485 Defective CD320 causes methylmalonic aciduria
3359458 Defective LMBRD1 causes methylmalonic aciduria and homocystinuria type cblF
3359457 Defective GIF causes intrinsic factor deficiency
3359463 Defective CUBN causes hereditary megaloblastic anemia 1
3359462 Defective AMN causes hereditary megaloblastic anemia 1
3359467 Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE
3359471 Defective MMAB causes methylmalonic aciduria type cblB
3359469 Defective MTR causes methylmalonic aciduria and homocystinuria type cblG
3359454 Defective TCN2 causes hereditary megaloblastic anemia

Details on Person Watkins, D

_displayNameWatkins, D
_timestamp2017-08-22 20:43:26
created[InstanceEdit:517430] D'Eustachio, P, 2010-02-18
modified[InstanceEdit:517431] D'Eustachio, P, 2010-02-18
(author)[LiteratureReference:517423] The molecular basis of glutamate formiminotransferase deficiency
[LiteratureReference:3000076] Positive newborn screen for methylmalonic aciduria identifies the first mutation in TCblR/CD320, the gene for cellular uptake of transcobalamin-bound vitamin B(12)
[LiteratureReference:3095895] Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type
[LiteratureReference:3132779] Inborn errors of cobalamin absorption and metabolism
[LiteratureReference:3149525] Subcellular location of MMACHC and MMADHC, two human proteins central to intracellular vitamin B(12) metabolism
[LiteratureReference:3159300] Mutations in the MMAA gene in patients with the cblA disorder of vitamin B12 metabolism
[LiteratureReference:3318577] Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations
[LiteratureReference:3322111] Hyperhomocysteinemia due to methionine synthase deficiency, cblG: structure of the MTR gene, genotype diversity, and recognition of a common mutation, P1173L
[LiteratureReference:3928676] Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism
[InstanceEdit:4093346] Watkins, D, 2013-08-14
(chapterAuthors)[Book:3446763] The Online Metabolic and Molecular Bases of Inherited Disease 0079130356 Valle, D Chapter 155: Inherited Disorders of Folate and Cobalamin Transport and Metabolism
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