Citations for
1DSDFEH, PGM2L1
Impaired glucose-1,6-biphosphate production due to bi-allelic PGM2L1 mutations is associated with a neurodevelopmental disorder
Morava E, Schatz UA, Torring PM, Abbott MA, Baumann M, Brasch-Andersen C, Chevalier N, Dunkhase-Heinl U, Fleger M, Haack TB, Nelson S, Potelle S, Radenkovic S, Bommer GT, Van Schaftingen E, Veiga-da-Cunha M.
Am J Hum Genet. jun 3;108(6):1151-1160. doi: 10.1016/j.ajhg.2021.04.017. Epub 2021 May 11. 2021
2PGM2, PGM2L1, PGM3, PGM5
Sequence-structure relationships, expression profiles, and disease-associated mutations in the paralogs of phosphoglucomutase 1
Muenks AG, Stiers KM, Beamer LJ.
PLoS One. Aug 24;12(8):e0183563. doi: 10.1371/journal.pone.0183563. 2017
3PGM2, PGM2L1, PMM1, PMM2
Mammalian phosphomannomutase PMM1 is the brain IMP-sensitive glucose-1,6-bisphosphatase.
Veiga-da-Cunha M, Vleugels W, Maliekal P, Matthijs G, Van Schaftingen E.
J Biol Chem 283(49):33988-93. Epub 2008 Oct 16. 2008
4PGM2, PGM2L1
Molecular identification of mammalian phosphopentomutase and glucose-1,6-bisphosphate synthase, two members of the alpha-D-phosphohexomutase family.
Maliekal P, Sokolova T, Vertommen D, Veiga-da-Cunha M, Van Schaftingen E.
J Biol Chem 282(44):31844-51. Epub 2007 Sep 5. 2007