Citations for
1AGPS, GNPAT, RCDP2, RCDP3
Functional characterization of novel mutations in GNPAT and AGPS, causing rhizomelic chondrodysplasia punctata (RCDP) types 2 and 3.
Itzkovitz B, Jiralerspong S, Nimmo G, Loscalzo M, Horovitz DD, Snowden A, Moser A, Steinberg S, Braverman N.
Hum Mutat 33(1):189-97. doi: 10.1002/humu.21623. Epub 2011 Oct 31. 2012
2AGPS, RCDP3
Blind sterile 2 (bs2), a hypomorphic mutation in Agps, results in cataracts and male sterility in mice.
Liegel R, Chang B, Dubielzig R, Sidjanin DJ.
Mol Genet Metab 103(1):51-9. doi: 10.1016/j.ymgme.2011.02.002. Epub 2011 Feb 25. 2011
3AGPS, ARSE, CDPX1, CDPX2A, CHILD, DHAPAT, EBP, GGCX, HEMSK, KES, LBR, MGP, NSHDL, PEX7, RCDP1, RCDP2, RCDP3, VKCFD2, VKORC1
Chondrodysplasia punctata: a clinical diagnostic and radiological review.
Irving MD, Chitty LS, Mansour S, Hall CM.
Clin Dysmorphol 17(4):229-41. 2008
4AGPS
Isolation and characterization of mutant animal cell line defective in alkyl-dihydroxyacetonephosphate synthase: localization and transport of plasmalogens to post-Golgi compartments.
Honsho M, Yagita Y, Kinoshita N, Fujiki Y.
Biochim Biophys Acta 1783(10):1857-65. doi: 10.1016/j.bbamcr.2008.05.018. Epub 2008 Jun 3. 2008
5AGPS, GNPAT, RCDP3
Impaired membrane traffic in defective ether lipid biosynthesis.
Thai TP, Rodemer C, Jauch A, Hunziker A, Moser A, Gorgas K, Just WW.
Hum Mol Genet 10(2):127-36. 2001
6AGPS
Stability of alkyl-dihydroxyacetonephosphate synthase in human control and peroxisomal disorder fibroblasts.
Biermann J, Gootjes J, Wanders RJ, van den Bosch H.
IUBMB Life 48(6):635-9. 1999
7AGPS
Ether lipid biosynthesis: alkyl-dihydroxyacetonephosphate synthase protein deficiency leads to reduced dihydroxyacetonephosphate acyltransferase activities.
de Vet EC, Ijlst L, Oostheim W, Dekker C, Moser HW, van Den Bosch H, Wanders RJ.
J Lipid Res 40(11):1998-2003. 1999