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10 Possible Causes for , acyltransferase, dolichol, phosphatidylethanolamine

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  • Plasmalogen Deficiency

    Biosynthesis of cholesterol and dolichol 6. Pipecolic acid degradation 7. Biosynthesis of decosahexaemoic acid 8. Hydrogen peroxide metabolism 9.[google.tl] Abstract The plasmalogen ratio (defined as area ratio of lysophosphatidylethanolamine to the diacyl form of phosphatidylethanolamine) was investigated in cultured skin fibroblasts[ncbi.nlm.nih.gov] Glycerol-3-phosphate acyltransferase activities were identical in mutant and parent strains.[pnas.org]

  • Mevalonate Kinase Deficiency

    […] or dolichol phosphate pool.[ncbi.nlm.nih.gov] Long-chain aldehydes can modify macromolecules by forming covalent Schiff base adducts with certain lipids (phosphatidylethanolamine) and proteins.[rarediseasesnetwork.org] […] studies, analysis of metabolites (very long-chain fatty acids, bile acids, and plasmalogens), enzyme studies (peroxisomal beta-oxidation pathway and dihydroxyacetone phosphate acyltransferase[books.google.ro]

  • Sjogren-Larsson Syndrome

    Dolichol Metabolism Disorders (DMDs) Dolichol Metabolism Disorders (DMDs) are a group of rare genetic diseases of dolichol synthesis and metabolism.[rarediseasesnetwork.org] Consistent with fatty aldehyde accumulation, incorporation of radioactivity into N-alkyl-phosphatidylethanolamine, which is derived from Schiff base formation of free aldehyde[ncbi.nlm.nih.gov] Recently, a patient with rhizomelic chondrodysplasia punctata (RCDP) due to deficiency of the peroxisomal enzyme dihydroxyaceton phosphate acyltransferase (DHAPAT) was reported[ajnr.org]

  • Beta-Ureidopropionase Deficiency

    DKC DLD deficiency DM1 DMD DMG dehydrogenase deficiency DMGDH deficiency DNA ligase IV deficiency DOA DOCK8 immunodeficiency syndrome Dol-P-mannosyltransferase deficiency Dolichol[csbg.cnb.csic.es] […] substrates for pyrimidine nucleotide salvaging, also act as the precursors of cytidine triphosphate used in the biosynthetic pathway of both brain’s phosphatidylcholine and phosphatidylethanolamine[ingentaconnect.com] Triacylglycerin-Lipase LIPC, HL, LIPH 15q21-q23 Fischaugenkrankheit, Norum-Krankheit Lecithin--Cholesterol-Acyltransferase (LCAT) LCAT 16q22.1 Kongenitales Myasthenie-Syndrom[de.wikibooks.org]

  • Hereditary Cryohydrocytosis with Normal Stomatin

    DKC DLD deficiency DM1 DMD DMG dehydrogenase deficiency DMGDH deficiency DNA ligase IV deficiency DOA DOCK8 immunodeficiency syndrome Dol-P-mannosyltransferase deficiency Dolichol[csbg.cnb.csic.es] Early studies suggested the excess PC was due to diminished transfer of PC fatty acids to phosphatidylethanolamine, a pathway that is normally stimulated by cellular dehydration[cancertherapyadvisor.com] E. ( 1 967) Familial plasma lecithin: cholesterol acyltransferase deficiency: biochemical study of a new inborn error of metabolism.[docslide.com.br]

  • Optic Atrophy-Intellectual Disability Syndrome

    […] inflammatory response(GO:0050728) 0.1 0.5 GO:0034067 protein localization to Golgi apparatus(GO:0034067) 0.1 0.7 GO:0008272 sulfate transport(GO:0008272) 0.1 1.5 GO:0006490 dolichol-linked[ismara.unibas.ch] ADSS adenylosuccinate synthase AGAP1 ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 AGO3 argonaute RISC catalytic component 3 AGPAT3 1-acylglycerol-3-phosphate O-acyltransferase[amp.pharm.mssm.edu] […] deficiency , see Schindler disease alpha-galNAc deficiency, Schindler type , see Schindler disease alpha-LCAT deficiency , see fish-eye disease alpha-lecithin:cholesterol acyltransferase[mygenomics.com]

  • Overhydrated Hereditary Stomatocytosis

    DKC DLD deficiency DM1 DMD DMG dehydrogenase deficiency DMGDH deficiency DNA ligase IV deficiency DOA DOCK8 immunodeficiency syndrome Dol-P-mannosyltransferase deficiency Dolichol[csbg.cnb.csic.es] Early studies suggested the excess PC was due to diminished transfer of PC fatty acids to phosphatidylethanolamine, a pathway that is normally stimulated by cellular dehydration[oncologynurseadvisor.com] […] cholesterol to phospholipid ratio is normal or slightly increased, reflecting changes in the distribution of plasma phospholipids and a decrease in lecithin-cholesterol acyltransferase[medtextfree.wordpress.com]

  • Glucomannan

    […] beta-D-Mannosyldiacetylchitobiosyldiphosphodolichol C00096 GDPmannose C00464 Mannan C04252 Dolichyl beta-D-mannosyl phosphate C00110 Dolichyl phosphate C00112 CDP C00381 Dolichol[aber.ac.uk] -beta-D-mannan endohydrolase precursor 10kD PSII protein 14.5 kDa heat-shock protein (1-3,1-4)-beta-D-glucanase 1,3-beta glucan endohydrolase 1-acy1-glycerol-3-phosphate acyltransferase[wheat.pw.usda.gov] The dolichol pathway of N-linked glycosylation. Biochim. Biophys. Acta 1426 : 239 -257. Burn, J. E., U. A. Hurley, R. J. Birch, T. Arioli, A. Cork, and R. E.[doi.org]

  • Familial Dyskinesia and Facial Myokymia

    Urinary sediment dolichol levels are elevated in both types.[neuroweb.us] Through the oxygenation of membrane-bound phosphatidylethanolamine in macrophages may favor clearance of apoptotic cells during inflammation by resident macrophages and prevent[molsoft.com] In addition to its acyltransferase activity, it may act as a ligase. kcaSOAT2Sterol O-acyltransferase 21260.7881membrane-bound acyltransferaseNot Available kcaSPHK1Sphingosine[molsoft.com]

  • Atrial Standstill

    DNAJC4, DANJC4, HSPF2, MCG18 DnaJ (Hsp40) homolog, subfamily C, member 4 C00001510 9732 DOCK4 dedicator of cytokinesis 4 C00001510 22845 DOLK, CDG1M, DK, DK1, SEC59, TMEM15 dolichol[genome.jp] 2 C00001510 138151 NACC2, BEND9, BTBD14, BTBD14A, BTBD31, RBB NACC family member 2, BEN and BTB (POZ) domain containing C00001510 222236 NAPEPLD, FMP30, NAPE-PLD N-acyl phosphatidylethanolamine[genome.jp] […] abhydrolase domain containing 11 C00001510 27 ABL2, ABLL, ARG c-abl oncogene 2, non-receptor tyrosine kinase (EC:2.7.10.2) C00001510 30 ACAA1, ACAA, PTHIO, THIO acetyl-CoA acyltransferase[genome.jp]