Dorothe Spillmann

Reviewed Pathways (29/29)
Date Identifier Pathway Reference
2015-04-30 R-HSA-4085023 Defective GFPT1 causes CMSTA1 BibTex
2015-04-30 R-HSA-5609974 Defective PGM1 causes PGM1-CDG BibTex
2015-04-30 R-HSA-4719360 Defective DPM3 causes DPM3-CDG BibTex
2015-04-30 R-HSA-4085011 Defective GNE causes sialuria, NK and IBM2 BibTex
2015-04-30 R-HSA-4755609 Defective DHDDS causes RP59 BibTex
2015-04-30 R-HSA-4043916 Defective MPI causes MPI-CDG BibTex
2015-04-30 R-HSA-4755579 Defective SRD5A3 causes SRD5A3-CDG, KHRZ BibTex
2015-04-30 R-HSA-4755583 Defective DOLK causes DOLK-CDG BibTex
2015-04-30 R-HSA-4717374 Defective DPM1 causes DPM1-CDG BibTex
2015-04-30 R-HSA-4719377 Defective DPM2 causes DPM2-CDG BibTex
2015-04-30 R-HSA-4043911 Defective PMM2 causes PMM2-CDG BibTex
2015-04-30 R-HSA-4341670 Defective NEU1 causes sialidosis BibTex
2014-07-09 R-HSA-3781865 Diseases of glycosylation BibTex
2014-07-09 R-HSA-5609975 Diseases associated with glycosylation precursor biosynthesis BibTex
2014-07-09 R-HSA-3560782 Diseases associated with glycosaminoglycan metabolism BibTex
2014-07-09 R-HSA-3656244 Defective B4GALT1 causes B4GALT1-CDG (CDG-2d) BibTex
2014-07-09 R-HSA-3656243 Defective ST3GAL3 causes MCT12 and EIEE15 BibTex
2014-07-09 R-HSA-3560796 Defective PAPSS2 causes SEMD-PA BibTex
2014-07-09 R-HSA-3656253 Defective EXT1 causes exostoses 1, TRPS2 and CHDS BibTex
2014-07-09 R-HSA-3656248 Defective HEXB causes GM2G2 BibTex
2014-07-09 R-HSA-4420332 Defective B3GALT6 causes EDSP2 and SEMDJL1 BibTex
2014-07-09 R-HSA-3595174 Defective CHST14 causes EDS, musculocontractural type BibTex
2014-07-09 R-HSA-3595172 Defective CHST3 causes SEDCJD BibTex
2014-07-09 R-HSA-3656225 Defective CHST6 causes MCDC1 BibTex
2014-07-09 R-HSA-3560801 Defective B3GAT3 causes JDSSDHD BibTex
2014-07-09 R-HSA-3560783 Defective B4GALT7 causes EDS, progeroid type BibTex
2014-07-09 R-HSA-3656237 Defective EXT2 causes exostoses 2 BibTex
2014-07-09 R-HSA-3656234 Defective HEXA causes GM2G1 BibTex
2014-07-09 R-HSA-3595177 Defective CHSY1 causes TPBS BibTex
Reviewed Reactions (41/41)
Date Identifier Reaction Reference
2015-04-30 R-HSA-4085027 Defective GFPT1 does not transfer an amino group from L-Gln to F6P to form GlcN6P BibTex
2015-04-30 R-HSA-5609939 Defective PGM1 does not isomerise G6P to G1P BibTex
2015-04-30 R-HSA-4719354 Defective DPM3 does not transfer mannose to DOLP to form DOLPman BibTex
2015-04-30 R-HSA-4088338 Defective GNE does not hydrolyse UDP-GlcNAc BibTex
2015-04-30 R-HSA-4088322 Defective GNE does not phosphorylate ManNAc to ManNAc-6-P BibTex
2015-04-30 R-HSA-4755545 Defective DHDDS does not elongate E,E-FPP BibTex
2015-04-30 R-HSA-3781832 Defective MPI does not isomerize Fru6P to Man6P BibTex
2015-04-30 R-HSA-4755572 Defective SRD5A3 does not reduce pPNOL to DCHOL BibTex
2015-04-30 R-HSA-4755600 Defective DOLK does not phosphorylate DCHOL BibTex
2015-04-30 R-HSA-4717406 Defective DPM1 does not transfer mannose to DOLP to form DOLPman BibTex
2015-04-30 R-HSA-4719375 Defective DPM2 does not transfer mannose to DOLP to form DOLPman BibTex
2015-04-30 R-HSA-3781926 Defective PMM2 does not isomerise Man6P to Man1P BibTex
2015-04-30 R-HSA-4341669 Defective NEU1 does not hydrolyse Neu5Ac from glycoconjugates BibTex
2014-07-09 R-HSA-3656230 Defective B4GALT1 does not transfer Gal to the keratan chain BibTex
2014-07-09 R-HSA-9035949 Defective B4GALT1 does not transfer Gal to the N-glycan precursor BibTex
2014-07-09 R-HSA-9035950 Defective B4GALT1 does not transfer Gal to a branch of keratan BibTex
2014-07-09 R-HSA-3656258 Defective ST3GAL3 does not transfer SA to keratan BibTex
2014-07-09 R-HSA-3560785 Defective PAPSS2 does not transfer PO4(2-) group from ATP to APS to form PAPS BibTex
2014-07-09 R-HSA-3560794 Defective PAPSS2 does not transfer SO4(2-) group to ATP to form APS BibTex
2014-07-09 R-HSA-3656261 Defective EXT1 (in EXT1:EXT2) does not transfer GlcNAc to the heparan chain BibTex
2014-07-09 R-HSA-9036283 Defective EXT1 (in EXT1:EXT2) does not transfer GlcNAc to the terminal GlcA residue BibTex
2014-07-09 R-HSA-9036285 Defective EXT1 (in EXT1:EXT2) does not transfer GlcA to heparan BibTex
2014-07-09 R-HSA-3656257 Defective EXT1 (in EXT1:EXT2) does not transfer GlcA to heparan BibTex
2014-07-09 R-HSA-9035983 Defective HEXB does not cleave the terminal GalNAc from keratan sulfate BibTex
2014-07-09 R-HSA-9035982 Defective HEXB does not cleave the terminal GalNAc from HA fragments BibTex
2014-07-09 R-HSA-3662344 Defective HEXB does not cleave the terminal GalNAc from DS BibTex
2014-07-09 R-HSA-4420365 Defective B3GALT6 does not transfer Gal to the tetrasaccharide linker BibTex
2014-07-09 R-HSA-3636919 Defective CHST14 does not transfer SO4(2-) to GalNAc in dermatan or DS BibTex
2014-07-09 R-HSA-3595175 Defective CHST3 does not transfer SO4(2-) to chondroitin BibTex
2014-07-09 R-HSA-3656269 Defective CHST6 does not transfer SO4(2-) to GlcNAc residues on keratan-PG BibTex
2014-07-09 R-HSA-3560802 Defective B3GAT3 does not transfer GlcA to tetrasaccharide linker BibTex
2014-07-09 R-HSA-3560804 Defective B4GALT7 does not transfer Gal to xylosyl-unit of the tetrasaccharide linker BibTex
2014-07-09 R-HSA-9036289 Defective EXT2 (in EXT1:EXT2) does not transfer GlcA to heparan BibTex
2014-07-09 R-HSA-3656254 Defective EXT2 (in EXT1:EXT2) does not transfer GlcNAc to the heparan chain BibTex
2014-07-09 R-HSA-9036290 Defective EXT2 (in EXT1:EXT2) does not transfer GlcNAc to heparan BibTex
2014-07-09 R-HSA-3656267 Defective EXT2 (in EXT1:EXT2) does not transfer GlcA to heparan BibTex
2014-07-09 R-HSA-9035976 Defective HEXA does not cleave the terminall GalNAc from small HA fragments BibTex
2014-07-09 R-HSA-9035978 Defective HEXA does not cleave the terminal GalNAc from keratan sulfate BibTex
2014-07-09 R-HSA-3656259 Defective HEXA does not cleave the terminal GalNAc from DS BibTex
2014-07-09 R-HSA-3595178 Defective CHSY1 does not transfer GlcA to chondroitin BibTex
2014-07-09 R-HSA-3595176 Defective CHSY1 does not transfer GalNAc to chondroitin BibTex
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