GNPAT

Summary

Gene Symbol: GNPAT
Description: glyceronephosphate O-acyltransferase
Alias: DAP-AT, DAPAT, DHAPAT, RCDP2, dihydroxyacetone phosphate acyltransferase, DHAP-AT, acyl-CoA:dihydroxyacetonephosphateacyltransferase, glycerone-phosphate O-acyltransferase
Species: human
Products:     GNPAT

Top Publications

  1. Itzkovitz B, Jiralerspong S, Nimmo G, Loscalzo M, Horovitz D, Snowden A, et al. Functional characterization of novel mutations in GNPAT and AGPS, causing rhizomelic chondrodysplasia punctata (RCDP) types 2 and 3. Hum Mutat. 2012;33:189-97 pubmed publisher
    ..and less frequently due to defects in the peroxisomal enzymes required to initiate plasmalogen synthesis, GNPAT (RCDP2) and AGPS (RCDP3)...
  2. Barton J, McLaren C, Chen W, Ramm G, Anderson G, Powell L, et al. Cirrhosis in Hemochromatosis: Independent Risk Factors in 368 HFE p.C282Y Homozygotes. Ann Hepatol. 2018;17:871-879 pubmed publisher
    ..aminotransferase; elevated aspartate aminotransferase; steatosis/fatty liver; iron removed by phlebotomy, g; and GNPAT p.D519G positivity. Mean age of 368 participants (73.6% men) was 47 ± 13 (standard deviation) y...
  3. Zhu X, Nicholson Puthenveedu S, Shen Y, La K, Ozlu C, Wang T, et al. CHP1 Regulates Compartmentalized Glycerolipid Synthesis by Activating GPAT4. Mol Cell. 2019;: pubmed publisher
    ..Interestingly, upon CHP1 loss, the peroxisomal enzyme, GNPAT, partially compensates for the loss of ER lipid synthesis, enabling cell proliferation...
  4. Youssef M, Ibrahim A, Akashi K, Hossain M. PUFA-Plasmalogens Attenuate the LPS-Induced Nitric Oxide Production by Inhibiting the NF-kB, p38 MAPK and JNK Pathways in Microglial Cells. Neuroscience. 2019;397:18-30 pubmed publisher
    ..LPS treatments suppressed the expression of Pls synthesizing enzymes, glycerone phosphate O-acyltransferase (GNPAT) and alkylglycerone phosphate synthase (AGPS) in the microglial cells by the p38MAPK and JNK pathways...
  5. Wang X, Zhu G, Cao W, Liu Z, Pan C, Hu W, et al. A novel ratiometric fluorescent probe for the detection of uric acid in human blood based on H2O2-mediated fluorescence quenching of gold/silver nanoclusters. Talanta. 2019;191:46-53 pubmed publisher
    ..oxidized to DAP in the presence of H2O2, then the fluorescence intensity corresponding to DAP at 580 nm increased dramatically with a fluorescence quenching of BSA-Au/Ag NCs at 690 nm, resulting in a RF-..
  6. Wang J, Xing Y, Xie Y, Meng Y, Xia J, Feng X. The use of calcium carbonate-enriched clay minerals and diammonium phosphate as novel immobilization agents for mercury remediation: Spectral investigations and field applications. Sci Total Environ. 2019;646:1615-1623 pubmed publisher
    ..The results showed that application of CECM and DAP at a ratio of 50:1 (w/w) removed over 90% of Hg from solutions containing 1.8??M Hg2+, which was 9- or 2...
  7. Nury T, Sghaier R, Zarrouk A, Menetrier F, Uzun T, Leoni V, et al. Induction of peroxisomal changes in oligodendrocytes treated with 7-ketocholesterol: Attenuation by α-tocopherol. Biochimie. 2018;153:181-202 pubmed publisher
    ..and ABCD3 (two ATP-dependent peroxisomal transporters), and of ACOX1 and MFP2 enzymes, and lower mRNA level of DHAPAT, involved in peroxisomal β-oxidation and plasmalogen synthesis, respectively, and increased levels of very long ..
  8. Buchert R, Tawamie H, Smith C, Uebe S, Innes A, Al Hallak B, et al. A peroxisomal disorder of severe intellectual disability, epilepsy, and cataracts due to fatty acyl-CoA reductase 1 deficiency. Am J Hum Genet. 2014;95:602-10 pubmed publisher
    ..Mutations in PEX7, GNPAT, and AGPS, all involved in the plasmalogen-biosynthesis pathway, have been described in individuals with RCDP...
  9. Gu L, Zhu Y, Lin X, Li Y, Cui K, Prochownik E, et al. Amplification of Glyceronephosphate O-Acyltransferase and Recruitment of USP30 Stabilize DRP1 to Promote Hepatocarcinogenesis. Cancer Res. 2018;78:5808-5819 pubmed publisher
    ..In this study, we report that, in a bioinformatic screen of 2,783 genes encoding metabolic enzymes, GNPAT, which encodes the enzyme glyceronephosphate O-acyltransferase, is amplified, upregulated, and highly correlated ..

More Information

Publications53

  1. Smith J, Yim J, Rice S, Stamper K, Kebriaei R, Rybak M. Combination of Tedizolid and Daptomycin against Methicillin-Resistant Staphylococcus aureus in an In Vitro Model of Simulated Endocardial Vegetations. Antimicrob Agents Chemother. 2018;62: pubmed publisher
    ..simulations of 6 mg/kg of body weight and 10 mg/kg once daily were tested alone and in the combinations TZD plus DAP at 6 mg/kg or DAP at 10 mg/kg against two clinical strains of MRSA, 494 and 67...
  2. Ali F, Hossain M, Sejimo S, Akashi K. Plasmalogens Inhibit Endocytosis of Toll-like Receptor 4 to Attenuate the Inflammatory Signal in Microglial Cells. Mol Neurobiol. 2019;56:3404-3419 pubmed publisher
    ..In addition, the reduction of cellular Pls by sh-RNA-mediated knockdown of GNPAT (glyceronephosphate O-acyltransferase), a Pls synthesizing enzyme, enhanced the endocytosis of TLR4 and activation ..
  3. Verma R, Fischer B, Gregory R, Yassen G. The Radiopacity and Antimicrobial Properties of Different Radiopaque Double Antibiotic Pastes Used in Regenerative Endodontics. J Endod. 2018;44:1376-1380 pubmed publisher
    ..ZrO2 DAP at 1 mg/mL and Ca(OH)2 did not show significant residual antibacterial effects...
  4. Sabrah A, Yassen G, Spolnik K, Hara A, Platt J, Gregory R. Evaluation of Residual Antibacterial Effect of Human Radicular Dentin Treated with Triple and Double Antibiotic Pastes. J Endod. 2015;41:1081-4 pubmed publisher
    ..For treatment groups, specimens were treated with either TAP or DAP at various concentrations (1000, 1, or 0.5 mg/mL) for 2 weeks...
  5. Sánchez A, Gil J, Rojas Rejón O, de Alba A, Medina A, Flores R, et al. Sequential pretreatment strategies under mild conditions for efficient enzymatic hydrolysis of wheat straw. Bioprocess Biosyst Eng. 2015;38:1127-41 pubmed publisher
    ..Acid and alkali concentrations played a relevant role in all pretreatment sequences, while reaction time and temperature were less important with an almost-linear effect on the total monosaccharide yields. ..
  6. Kebriaei R, Rice S, Singh K, Stamper K, Dinh A, Rios R, et al. Influence of Inoculum Effect on the Efficacy of Daptomycin Monotherapy and in Combination with β-Lactams against Daptomycin-Susceptible Enterococcus faecium Harboring LiaSR Substitutions. Antimicrob Agents Chemother. 2018;62: pubmed publisher
    ..In contrast, at an inoculum of ∼107 CFU/g, marked reductions in bacterial counts were observed with DAP at 6 mg/kg/day, with no resistance. The inoculum effect was confirmed in a rat model using humanized DAP exposures...
  7. Lopes R, Rao M, Simon D, Thomas L, Ansell J, Fonarow G, et al. Triple vs Dual Antithrombotic Therapy in Patients with Atrial Fibrillation and Coronary Artery Disease. Am J Med. 2016;129:592-599.e1 pubmed publisher
    ..The use of triple antithrombotic therapy, OAC plus AA, and DAP at baseline was 8.5% (n = 155), 80.4% (n = 1468), and 11.2% (n = 204), respectively...
  8. Liu F, Li S, Liu G, Li F. Triosephosphate isomerase (TPI) facilitates the replication of WSSV in Exopalaemon carinicauda. Dev Comp Immunol. 2017;71:28-36 pubmed publisher
    ..G-3-P) showed down-regulation at 12-27 hpi, while the gene encoding dihydroxyacetone-phosphate acyltransferase (DHAPAT) catalyzing DHAP to further synthesis of phospholipids showed up-regulation at 12-24 hpi...
  9. Naksen W, Prapamontol T, Mangklabruks A, Chantara S, Thavornyutikarn P, Srinual N, et al. Associations of maternal organophosphate pesticide exposure and PON1 activity with birth outcomes in SAWASDEE birth cohort, Thailand. Environ Res. 2015;142:288-96 pubmed publisher
    ..activity (n=23), newborn head circumference was negatively correlated with log10 maternal ∑DEAP and ∑DAP at enrollment (gestational age=12±3 weeks; β=-1.0 cm, p=0.03 and β=-1.8 cm, p<0...
  10. Smith J, Barber K, Hallesy J, Raut A, Rybak M. Telavancin demonstrates activity against methicillin-resistant Staphylococcus aureus isolates with reduced susceptibility to vancomycin, daptomycin, and linezolid in broth microdilution MIC and one-compartment pharmacokinetic/pharmacodynamic models. Antimicrob Agents Chemother. 2015;59:5529-34 pubmed publisher
    ..were randomly selected for 168-h in vitro models to evaluate treatment with TLV at 10 mg/kg of body weight/day, DAP at 10 mg/kg/day, VAN at 1 g every 12 h (q12h), and LZD at 600 mg q12h...
  11. Barøy T, Koster J, Strømme P, Ebberink M, Misceo D, Ferdinandusse S, et al. A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform. Hum Mol Genet. 2015;24:5845-54 pubmed publisher
    ..Three additional RCDP types, RCDP2-3-4, are caused, respectively, by mutations in GNPAT, AGPS and FAR1, encoding enzymes involved in plasmalogen ..
  12. Panesso D, Reyes J, Gaston E, Deal M, Londoño A, Nigo M, et al. Deletion of liaR Reverses Daptomycin Resistance in Enterococcus faecium Independent of the Genetic Background. Antimicrob Agents Chemother. 2015;59:7327-34 pubmed publisher
    ..25 and 0.094 μg/ml, respectively). Moreover, DAP at concentrations of 13 μg/ml (achieved with human doses of 12 mg/kg body weight) retained bactericidal activity ..
  13. Greiwe G, Tariparast P, Behem C, Petzoldt M, Herich L, Trepte C, et al. Is applanation tonometry a reliable method for monitoring blood pressure in morbidly obese patients undergoing bariatric surgery?. Br J Anaesth. 2016;116:790-6 pubmed publisher
    ..Bias for MAPAT compared with MAPAL was +3.97 mm Hg (SAPAT +3.45 mm Hg; DAPAT +3.66 mm Hg) with limits of agreement for MAPAT of -14.47 and +22.41 mm Hg (SAPAT -22.0 and +28.9 mm Hg; DAPAT -15...
  14. Hall Snyder A, Werth B, Nonejuie P, McRoberts J, Pogliano J, Sakoulas G, et al. Fosfomycin Enhances the Activity of Daptomycin against Vancomycin-Resistant Enterococci in an In Vitro Pharmacokinetic-Pharmacodynamic Model. Antimicrob Agents Chemother. 2016;60:5716-23 pubmed publisher
    ..The activity of DAP at 8 and 12 mg/kg of body weight/day (DAP 8 and DAP 12, respectively) and FOF of 40 mg/kg intravenously every 8 h, ..
  15. Duker A, Niiler T, Eldridge G, Brereton N, Braverman N, Bober M. Growth charts for individuals with rhizomelic chondrodysplasia punctata. Am J Med Genet A. 2017;173:108-113 pubmed publisher
    ..autosomal recessive inheritance, and their associated genes are known: RCDP type 1 with PEX7, RCDP type 2 with GNPAT, RCDP type 3 with AGPS, RCDP type 4 with FAR1, and RCDP type 5 with PEX5...
  16. Yan X, Tian M, Liu F, Wang C, Zhang Y. Hormonal and morphological changes during seed development of Cypripedium japonicum. Protoplasma. 2017;254:2315-2322 pubmed publisher
    ..05). It indicated that the lack of endosperm and suspensor tissues, delayed differentiation of embryos, and high levels of ABA may lead to the difficulty of germination. ..
  17. Geisler Lee J, Brooks M, Gerfen J, Wang Q, Fotis C, Sparer A, et al. Reproductive Toxicity and Life History Study of Silver Nanoparticle Effect, Uptake and Transport in Arabidopsis thaliana. Nanomaterials (Basel). 2014;4:301-318 pubmed publisher
    ..i> 2001 [41]), AgNPs attached to the surface of primary roots and then entered their root tips; (2) At 14 DAP at S1...
  18. Kumaraswamy M, Do C, Sakoulas G, Nonejuie P, Tseng G, King H, et al. Listeria monocytogenes endocarditis: case report, review of the literature, and laboratory evaluation of potential novel antibiotic synergies. Int J Antimicrob Agents. 2018;51:468-478 pubmed publisher
    ..These in vitro and ex vivo studies suggest further investigation of combination therapy using AMP + CRO or AMP + DAP as an alternative treatment for LM infection is warranted. ..
  19. Smith J, Arya A, Yim J, Barber K, Hallesy J, Singh N, et al. Daptomycin in Combination with Ceftolozane-Tazobactam or Cefazolin against Daptomycin-Susceptible and -Nonsusceptible Staphylococcus aureus in an In Vitro, Hollow-Fiber Model. Antimicrob Agents Chemother. 2016;60:3970-5 pubmed publisher
    ..Ninety-six-hour in vitro models were run, simulating DAP at 10 mg/kg of body weight/day; TOL-TAZ at 1,500 mg every 8 h; TOL at 1,000 mg every 8 h; and DAP combined with TOL-..
  20. Funakoshi N, Chaze I, Alary A, Tachon G, Cunat S, Giansily Blaizot M, et al. The role of genetic factors in patients with hepatocellular carcinoma and iron overload - a prospective series of 234 patients. Liver Int. 2016;36:746-54 pubmed publisher
    ..Genetic analyses of genes involved in hereditary IO (HFE, HJV/HFE2, HAMP, TFR2, SLC40A1, GNPAT) were performed in patients with increased LIC...
  21. Wang G, Fang X, Wu X, Hu X, Li Z. Label-free and ratiometric detection of nuclei acids based on graphene quantum dots utilizing cascade amplification by nicking endonuclease and catalytic G-quadruplex DNAzyme. Biosens Bioelectron. 2016;81:214-220 pubmed publisher
    ..The method also had additional advantages such as facile preparation and easy operation. ..
  22. Shi X, Tarazona P, Brock T, Browse J, Feussner I, Watts J. A Caenorhabditis elegans model for ether lipid biosynthesis and function. J Lipid Res. 2016;57:265-75 pubmed publisher
    ..the proteins required for the initial three steps in the ether lipid biosynthetic pathway, FARD-1/FAR1, ACL-7/GNPAT, and ADS-1/AGPS...
  23. Thai T, Rodemer C, Worsch J, Hunziker A, Gorgas K, Just W. Synthesis of plasmalogens in eye lens epithelial cells. FEBS Lett. 1999;456:263-8 pubmed
    ..paper describes cloning and sequencing of the mouse cDNA encoding dihydroxyacetonephosphate acyltransferase (DAPAT), the peroxisomal key enzyme of plasmalogen (PM) biosynthesis...
  24. Hardeman D, van den Bosch H. Topography of ether phospholipid biosynthesis. Biochim Biophys Acta. 1989;1006:1-8 pubmed
    ..In addition it was shown that endogenously generated substrate is used at a higher efficiency compared to exogenously added acyl-DHAP, suggesting a close interaction of the two enzymes in the peroxisomal membrane. ..
  25. Biermann J, Just W, Wanders R, van den Bosch H. Alkyl-dihydroxyacetone phosphate synthase and dihydroxyacetone phosphate acyltransferase form a protein complex in peroxisomes. Eur J Biochem. 1999;261:492-9 pubmed
    ..We conclude that alkyl-GrnP synthase interacts selectively with GrnP-acyltransferase in a heterotrimeric complex and in the absence of GrnP-acyltransferase can also form a homotrimeric complex. ..
  26. Ofman R, Hettema E, Hogenhout E, Caruso U, Muijsers A, Wanders R. Acyl-CoA:dihydroxyacetonephosphate acyltransferase: cloning of the human cDNA and resolution of the molecular basis in rhizomelic chondrodysplasia punctata type 2. Hum Mol Genet. 1998;7:847-53 pubmed
    ..peroxisomal abnormalities which includes a deficiency of acyl-CoA:dihydroxyacetonephosphate acyltransferase (DHAPAT), alkyl-dihydroxyacetonephosphate synthase (alkyl-DHAP synthase), peroxisomal 3-ketoacyl-CoA thiolase and ..
  27. Ofman R, Wanders R. Purification of peroxisomal acyl-CoA: dihydroxyacetonephosphate acyltransferase from human placenta. Biochim Biophys Acta. 1994;1206:27-34 pubmed
    The peroxisomal enzyme acyl-CoA:dihydroxyacetonephosphate acyltransferase (DHAPAT) was extracted from human placental membranes using CHAPS as a detergent in the presence of 1 M KCl...
  28. Ofman R, Lajmir S, Wanders R. Etherphospholipid biosynthesis and dihydroxyactetone-phosphate acyltransferase: resolution of the genomic organization of the human gnpat gene and its use in the identification of novel mutations. Biochem Biophys Res Commun. 2001;281:754-60 pubmed
    ..an enigma but the recent identification of patients suffering from an isolated defect in either dihydroxyacetone phosphate acyltransferase (GNPAT) or alkyldihydroxyacetone phosphate synthase provides conclusive evidence that ..
  29. Thai T, Heid H, Rackwitz H, Hunziker A, Gorgas K, Just W. Ether lipid biosynthesis: isolation and molecular characterization of human dihydroxyacetonephosphate acyltransferase. FEBS Lett. 1997;420:205-11 pubmed
    ..Monospecific antibodies raised against this polypeptide efficiently immunoprecipitated DAP-AT activity from solubilized peroxisomal preparations, thus demonstrating that the cloned cDNA codes for DAP-AT. ..
  30. Jang J, Park H, Yoo H, Baek I, Yoon J, Ko M, et al. Protective role of endogenous plasmalogens against hepatic steatosis and steatohepatitis in mice. Hepatology. 2017;66:416-431 pubmed publisher
    ..levels of docosahexaenoic acid (DHA)-containing plasmalogens, expression of glyceronephosphate O-acyltransferase (Gnpat; the rate-limiting enzyme in plasmalogen biosynthesis), and expression of Ppar? were lower in mice with NASH ..
  31. Elsemman I, Mardinoglu A, Shoaie S, Soliman T, Nielsen J. Systems biology analysis of hepatitis C virus infection reveals the role of copy number increases in regions of chromosome 1q in hepatocellular carcinoma metabolism. Mol Biosyst. 2016;12:1496-506 pubmed publisher
    ..Moreover, GNPAT and BCAP31 expression was upregulated in the early and advanced HCC stages and could lead to increased acyl-CoA ..
  32. Hossain M, Abe Y, Ali F, Youssef M, Honsho M, Fujiki Y, et al. Reduction of Ether-Type Glycerophospholipids, Plasmalogens, by NF-κB Signal Leading to Microglial Activation. J Neurosci. 2017;37:4074-4092 pubmed publisher
    ..via NF-κB activation, which then downregulated a Pls-synthesizing enzyme, glycerone phosphate O-acyltransferase (Gnpat) through increased c-Myc recruitment onto the Gnpat promoter...
  33. Liu Y, Fann C, Liu C, Chen W, Wu J, Hung S, et al. A single nucleotide polymorphism fine mapping study of chromosome 1q42.1 reveals the vulnerability genes for schizophrenia, GNPAT and DISC1: Association with impairment of sustained attention. Biol Psychiatry. 2006;60:554-62 pubmed
    ..Block 1 (five-SNP), located between intron 2 and intron 13 of the glyceronephosphate O-acyltransferase (GNPAT) gene, showed the most significant associations using single-locus TDT (z = -2.07, p = ...
  34. Greni F, Valenti L, Mariani R, Pelloni I, Rametta R, Busti F, et al. GNPAT rs11558492 is not a Major Modifier of Iron Status: Study of Italian Hemochromatosis Patients and Blood Donors. Ann Hepatol. 2017;16:451-456 pubmed publisher
    ..Among them, GNPAT rs11558492 was proposed as genetic modifier of iron status, but results are still controversial...
  35. Dorninger F, Herbst R, Kravic B, Camurdanoglu B, Macinkovic I, Zeitler G, et al. Reduced muscle strength in ether lipid-deficient mice is accompanied by altered development and function of the neuromuscular junction. J Neurochem. 2017;143:569-583 pubmed publisher
    ..Here, we used glyceronephosphate O-acyltransferase knockout (Gnpat KO) mice to study the consequences of complete inactivation of ether lipid biosynthesis and documented substantial ..
  36. Piano V, Nenci S, Magnani F, Aliverti A, Mattevi A. Recombinant human dihydroxyacetonephosphate acyl-transferase characterization as an integral monotopic membrane protein. Biochem Biophys Res Commun. 2016;481:51-58 pubmed publisher
    ..By exploring several expression systems and designing a number of constructs, we were able to purify the enzyme in its active form and we found that it is tightly bound to the membrane through the N-terminal residues. ..
  37. Levstik A, Stuart A, Adams P.  GNPAT variant (D519G) is not associated with an elevated serum ferritin or iron removed by phlebotomy in patients referred for C282Y-linked hemochromatosis. Ann Hepatol. 2016;15:907-910 pubmed
    Previous studies in high and low expressors has demonstrated that a variant in the GNPAT gene (D519G, Rs11558492, chromosome 1, exon 11) has been associated with severe iron overload in C282Y homozygotes for hemochromatosis...
  38. McLaren C, Emond M, Subramaniam V, Phatak P, Barton J, Adams P, et al. Exome sequencing in HFE C282Y homozygous men with extreme phenotypes identifies a GNPAT variant associated with severe iron overload. Hepatology. 2015;62:429-39 pubmed publisher
    ..A variant in the GNPAT gene showed the most significant association with severe iron overload (P = 3 × 10(-6) ; Pâ€..
  39. Barton J, Chen W, Emond M, Phatak P, Subramaniam V, Adams P, et al. GNPAT p.D519G is independently associated with markedly increased iron stores in HFE p.C282Y homozygotes. Blood Cells Mol Dis. 2017;63:15-20 pubmed publisher
    b>GNPAT p.D519G positivity is significantly increased in HFE p.C282Y homozygotes with markedly increased iron stores. We sought to determine associations of p.D519G and iron-related variables with iron stores in p.C282Y homozygotes...
  40. Miyazaki C, Saitoh M, Itoh M, Yamashita S, Miyagishi M, Takashima S, et al. Altered phospholipid molecular species and glycolipid composition in brain, liver and fibroblasts of Zellweger syndrome. Neurosci Lett. 2013;552:71-5 pubmed publisher
    ..glycolipids metabolism, RNAi of peroxisomal acylCo-A oxidase (ACOX1) and glyceronephosphate O-acyltransferase (GNPAT) was performed using cultured neural cells...
  41. Wanders R, Waterham H. Biochemistry of mammalian peroxisomes revisited. Annu Rev Biochem. 2006;75:295-332 pubmed
  42. Liu D, Nagan N, Just W, Rodemer C, Thai T, Zoeller R. Role of dihydroxyacetonephosphate acyltransferase in the biosynthesis of plasmalogens and nonether glycerolipids. J Lipid Res. 2005;46:727-35 pubmed
    ..is unable to synthesize plasmalogens because of a severe reduction in dihydroxyacetonephosphate acyltransferase (DHAPAT) activity (Nagan, N., A. K. Hajra, L. K. Larkins, P. Lazarow, P. E. Purdue, W. B. Rizzo, and R. A. Zoeller. 1998...
  43. Thai T, Rodemer C, Jauch A, Hunziker A, Moser A, Gorgas K, et al. Impaired membrane traffic in defective ether lipid biosynthesis. Hum Mol Genet. 2001;10:127-36 pubmed
    ..The data suggest that plasmalogens, analogous to cholesterol, are essential for correct membrane functioning and their deficiency results in impaired membrane trafficking...
  44. Schutgens R, Heymans H, Purvis R, Wanders R, Schrakamp G, van den Bosch H. [Diagnosis of Zellweger's cerebrohepatorenal syndrome]. Tijdschr Kindergeneeskd. 1984;52:231-8 pubmed
    ..Moreover, we recently found that in Zellweger patients the activity of dihydroxyacetone phosphate acyltransferase is deficient in tissues, fibroblasts and cultured amniotic fluid cells and that the ..