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Details on Person D'Eustachio, P, 2013-04-11
| Class:Id | InstanceEdit:3274539 |
| _displayName | D'Eustachio, P, 2013-04-11 |
| _timestamp | 2013-04-11 21:29:01 |
| author | [Person:140934] D'Eustachio, Peter |
| dateTime | 2013-04-12 01:28:45 |
| (created) | [Person:3274527] Sidbury, James B [LiteratureReference:3274528] Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a [EntityWithAccessionedSequence:3274529] G6PC R83C [endoplasmic reticulum membrane] [Homo sapiens] [Person:3274530] Tsai, Fuu-Jen [Pathway:3274531] Glycogen storage disease type Ia (G6PC) [Homo sapiens] [ReplacedResidue:3274532] L-arginine 170 replaced with L-glutamine [Person:3274533] Scheffer, Hans [Person:3274534] ten Berge, Annelies M [DefinedSet:3274535] G6PC mutants [endoplasmic reticulum membrane] [Homo sapiens] [EntityFunctionalStatus:3274536] loss_of_function of G6PC mutants [endoplasmic reticulum membrane] |
| (modified) | [Person:70316] Wu, Jer-Yuarn [Summation:71789] Glucose-6-phosphatase (G6PC) associated with the inner face ... [Reaction:71825] G6PC hydrolyzes G6P to Glc and Pi (liver) [Homo sapiens] [PathwayDiagram:541418] Diagram of Cellular hexose transport, Defective SLC2A1 causes GLUT1 deficiency syndrome 1 (GLUT1DS1), Defective SLC2A9 causes hypouricemia renal 2 (RHUC2), Defective SLC2A10 causes arterial tortuosity syndrome (ATS), Defective SLC5A1 causes congenital glucose/galactose malabsorption (GGM), and Defective SLC5A2 causes renal glucosuria (GLYS1) [Pathway:3229121] Glycogen storage diseases [Homo sapiens] [Summation:3229128] The SLC37A4 transport protein in the endoplasmic reticulum m... |
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No pathways have been reviewed or authored by D'Eustachio, P, 2013-04-11 (3274539)