1,914
Views
18
CrossRef citations to date
0
Altmetric
Reviews

Biosynthesis of ether-phospholipids including plasmalogens, peroxisomes and human disease: new insights into an old problem

&
Pages 379-386 | Published online: 18 Jan 2017

Bibliography

  • Hajra AK: Glycerolipid biosynthesis in peroxisomes (microbodies). Prog. Lipid Res. 34(4), 343–364 (1995).
  • Heymans HSA, Schutgens RBH, Tan R, van den Bosch H, Borst P: Severe plasmalogen deficiency in tissues of infants without peroxisomes (Zellweger syndrome). Nature 306(5938), 69–70 (1983).
  • ▪▪ Key publication showing the full deficiency of plasmalogens in Zellweger patients.
  • Bowen P, Lee CSM, Zellweger H, Lindenberg R: A familial syndrome of multiple congenital defects. Bull. Johns Hopkins Hosp. 114, 402–414 (1964).
  • ▪▪ Key publication that first describes the clinical signs and symptoms of Zellweger syndrome.
  • Wanders RJA, Heymans HSA, Schutgens RBH, Barth PG, van den Bosch H, Tager JM: Peroxisomal disorders in neurology. J. Neurol. Sci. 88(1–3), 1–39 (1988).
  • Goldfischer S, Moore CL, Johnson AB et al.: Peroxisomal and mitochondrial defects in the cerebro–hepato–renal syndrome. Science 182(107), 62–64 (1973).
  • ▪▪ Seminal paper that first describes the absence of morphologically recognizable peroxisomes in Zellweger patients.
  • Hajra AK, Bishop JE: Glycerolipid biosynthesis in peroxisomes via the acyl dihydroxyacetone phosphate pathway. Ann. NY Acad. Sci. 386, 170–182 (1982).
  • ▪ Significant paper providing direct evidence for the unique role of peroxisomes in glycerolipid synthesis.
  • Datta NS, Wilson GN, Hajra AK: Deficiency of enzymes catalyzing the biosynthesis of glycerol ether lipids in Zellweger syndrome. A new category of metabolic disease involving the absence of peroxisomes. N. Engl. J. Med. 311(17), 1080–1083 (1984).
  • Biermann J, Just WW, Wanders RJA, van den Bosch H: Alkyl-dihydroxyacetone phosphate synthase and dihydroxyacetone phosphate acyltransferase form a protein complex in peroxisomes. Eur. J. Biochem. 261(2), 492–499 (1999).
  • Gee R, McGroarty E, Hsieh B, Wied DM, Tolbert NE: Glycerol phosphate dehydrogenase in mammalian peroxisomes. Arch. Biochem. Biophys. 161, 187–193 (1974).
  • Antonenkov VD: Dehydrogenases of the pentose phosphate pathway in rat liver peroxisomes. Eur. J. Biochem. 183(1), 75–82 (1989).
  • Bishop JE, Hajra AK: Mechanism and specificity of formation of long chain alcohols by developing rat brain. J. Biol. Chem. 256(18), 9542–9550 (1981).
  • Cheng JB, Russell DW: Mammalian wax biosynthesis II: expression cloning of wax synthase cDNAs encoding a member of the acyltransferase enzyme family. J. Biol. Chem. 279(36), 37798–37807 (2004).
  • Cheng JB, Russell DW: Mammalian wax biosynthesis. I. Identification of two fatty acyl-Coenzyme A reductases with different substrate specificities and tissue distributions. J. Biol. Chem. 279(36), 37789–37797 (2004).
  • Wanders RJA, Schumacher H, Heikoop J, Schutgens RBH, Tager JM: Human dihydroxyacetonephosphate acyltransferase deficiency: a new peroxisomal disorder. J. Inherit. Metab. Dis. 15(3), 389–391 (1992).
  • ▪ First identification of human dihydroxy­ acetonephosphate acyltransferase deficiency.
  • Thai TP, Heid H, Rackwitz HR, Hunziker A, Gorgas K, Just WW: Ether lipid biosynthesisisolation and molecular characterization of human dihydroxyacetonephosphate acyltransferase. FEBS Lett. 420(2–3), 205–211 (1997).
  • Ofman R, Hettema EH, Hogenhout EM, Caruso U, Muijsers AO, Wanders RJA: Acyl-CoA-dihydroxyacetonephosphate acyltransferase – cloning of the human cDNA and resolution of the molecular basis in rhizomelic chondrodysplasia punctata type 2. Hum. Mol. Genet. 7(5), 847–853 (1998).
  • Elias ER, Mobassaleh M, Hajra AK, Moser AB: Developmental delay and growth failure caused by a peroxisomal disorder, dihydroxyacetonephosphate acyltransferase (DHAP-AT) deficiency. Am. J. Med. Genet. 80(3), 223–226 (1998).
  • Wanders RJA, Dekker C, Horvath VA et al.: Human alkyldihydroxyacetonephosphate synthase deficiency: a new peroxisomal disorder. J. Inherit. Metab. Dis. 17(3), 315–318 (1994).
  • ▪ First identification of human alkyl­ dihydroxyacetonephosphate deficiency.
  • de Vet EC, Biermann J, van den Bosch H: Immunological localization and tissue distribution of alkyldihydroxyacetonephosphate synthase and deficiency of the enzyme in peroxisomal disorders. Eur. J. Biochem. 247(2), 511–517 (1997).
  • de Vet EC, Ijlst L, Oostheim W et al.: Ether lipid biosynthesis. Alkyl-dihydroxyacetonephosphate synthase protein deficiency leads to reduced dihydroxyacetonephosphate acyltransferase activities. J. Lipid Res. 40(11), 1998–2003 (1999).
  • Ehehalt R, Keller P, Haass C, Thiele C, Simons K: Amyloidogenic processing of the Alzheimer b-amyloid precursor protein depends on lipid rafts. J. Cell Biol. 160(1), 113–123 (2003).
  • Goodenowe DB, Cook LL, Liu J et al.: Peripheral ethanolamine plasmalogen deficiency: a logical causative factor in Alzheimer’s disease and dementia. J. Lipid Res. 48(11), 2485–2498 (2007).
  • Moraitou M, Dimitriou E, Zafeiriou D et al.: Plasmalogen levels in Gaucher disease. Blood Cells Mol. Dis. 41(2), 196–199 (2008).
  • Kohlschutter A, Schade B, Blomer B, Hubner C: Low erythrocyte plasmalogen and plasma docosahexaenoic acid (DHA) in juvenile neuronal ceroid-lipofuscinosis (JNCL). J. Inherit. Metab. Dis. 16(2), 299–304 (1993).
  • Brites P, Motley AM, Gressens P et al.: Impaired neuronal migration and endochondral ossification in Pex7 knockout mice: a model for rhizomelic chondrodysplasia punctata. Hum. Mol. Genet. 12(18), 2255–2267 (2003).
  • ▪ Covers the first generation of a mouse model for rhizomelic chondrodysplasia punctata by disruption of the Pex7 gene.
  • Rodemer C, Thai TP, Brugger B et al.: Inactivation of ether lipid biosynthesis causes male infertility, defects in eye development and optic nerve hypoplasia in mice. Hum. Mol. Genet. 12(15), 1881–1895 (2003).
  • ▪ Covers the first generation of a mouse model for rhizomelic chondrodysplasia punctata by disruption of the Gnpat gene.
  • Brites P, Mooyer PA, El Mrabet L, Waterham HR, Wanders RJA: Plasmalogens participate in very-long-chain fatty acidinduced pathology. Brain 132(2), 482–492 (2009).
  • ▪ Significant paper documenting the protective role of plasmalogens in the pathology induced by very­long­chain fatty acids.
  • Kobayashi T, Shinnoh N, Kondo A, Yamada T: Adrenoleukodystrophy proteindeficient mice represent abnormality of very long chain fatty acid metabolism. Biochem. Biophys. Res. Commun. 232(3), 631–636 (1997).
  • Lu JF, Lawler AM, Watkins PA et al.: A mouse model for X-linked adrenoleukodystrophy. Proc. Natl Acad. Sci. USA 94, 9366–9371 (1997).
  • Forss-Petter S, Werner H, Berger J et al.: Targeted inactivation of the X-linked adrenoleukodystrophy gene in mice. J. Neurosci. Res. 50(5), 829–843 (1997).
  • Pujol A, Hindelang C, Callizot N, Bartsch U, Schachner M, Mandel JL: Late onset neurological phenotype of the X-ALD gene inactivation in mice: a mouse model for adrenomyeloneuropathy. Hum. Mol. Genet. 11(5), 499–505 (2002).
  • Gorgas K, Teigler A, Komljenovic D, Just WW: The ether lipid-deficient mouse: tracking down plasmalogen functions. Biochim. Biophys. Acta 1763(12), 1511–1526 (2006).

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.