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Details on Person Stephan, Ralf, 2025-03-07
| Class:Id | InstanceEdit:9941465 |
| _displayName | Stephan, Ralf, 2025-03-07 |
| _timestamp | 2025-03-07 10:42:40 |
| author | [Person:804962] Stephan, Ralf |
| dateTime | 2025-03-07 10:37:15 |
| (created) | [DatabaseIdentifier:9941451] RHEA:72275 [Person:9941452] Bruneel, Arnaud [Person:9941453] Aguilera-Albesa, Sergio [Person:9941454] Koller, T [ReferenceGroup:9941455] 3-O-(β-D-glucuronosyl-(1→3)-β-D-galactosyl-(1→3)-β-D-galactosyl-(1→4)-β-D-xylosyl)-L-serine residue [LiteratureReference:9941456] Biallelic variants in SLC35B2 cause a novel chondrodysplasia with hypomyelinating leukodystrophy [DatabaseIdentifier:9941457] RHEA:28574 [Person:9941458] Paganini, Chiara [Person:9941459] Haouari, Walid [LiteratureReference:9941460] Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance |
| (modified) | [Pathway:174362] Transport and metabolism of PAPS [Homo sapiens] [Reaction:174389] PAPSS1,2 transfer PO4(2-) group from ATP to APS to form PAPS [Homo sapiens] [Reaction:174392] PAPSS1,2 transfer SO4(2-) group to ATP to form APS [Homo sapiens] [Summation:176614] PAPS (3'-phosphoadenosine-5'-phosphosulfate), which function... [Reaction:427555] SLC26A1,2 cotransport SO4(2-), anion from extracellular region to cytosol [Homo sapiens] [Summation:427595] The SLC26A1 and 2 genes encode proteins that facilitate sulf... [Summation:741442] The human gene SLC35B2 encodes the adenosine 3'-phospho 5'-p... [Reaction:741449] SLC35B2,3 exchange cytosolic PAPS with Golgi PAP [Homo sapiens] [Reaction:744231] SLC35D2 exchanges UDP-GlcNAc for UMP [Homo sapiens] [Summation:744884] The human gene SLC35D2 encodes the UDP-N-acetylglucosamine/U... |
| (structureModified) | [Pathway:174362] Transport and metabolism of PAPS [Homo sapiens] [Reaction:427555] SLC26A1,2 cotransport SO4(2-), anion from extracellular region to cytosol [Homo sapiens] [Reaction:741449] SLC35B2,3 exchange cytosolic PAPS with Golgi PAP [Homo sapiens] [Reaction:2046285] ST3GAL1-4,6 optionally cap keratan chain [Homo sapiens] |
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No pathways have been reviewed or authored by Stephan, Ralf, 2025-03-07 (9941465)