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Disease on EC 2.3.1.42 - glycerone-phosphate O-acyltransferase

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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
Adrenoleukodystrophy
Dihydroxyacetone phosphate acyltransferase and alkyldihydroxyacetone phosphate synthase activities in rat liver subcellular fractions and human skin fibroblasts.
Carcinoma, Hepatocellular
Lipid composition of hepatitis B virus surface antigen particles and the particle-producing human hepatoma cell lines.
Stabilization of FASN by ACAT1-mediated GNPAT acetylation promotes lipid metabolism and hepatocarcinogenesis.
Chondrodysplasia Punctata
Abnormal myelination in peroxisomal isolated dihydroxyacetonephosphate acyltransferase deficiency.
Chondrodysplasia punctata with a mild clinical course.
X-linked dominant chondrodysplasia punctata with decreased dihydroxyacetone phosphate acyltransferase activity.
Chondrodysplasia Punctata, Rhizomelic
A new GNPAT variant of foetal rhizomelic chondrodysplasia punctata.
Chondrodysplasia punctata with a mild clinical course.
Clinical, biochemical, and molecular characterization of mild (nonclassic) rhizomelic chondrodysplasia punctata.
Dihydroxyacetone phosphate acyltransferase and alkyldihydroxyacetone phosphate synthase activities in rat liver subcellular fractions and human skin fibroblasts.
Drosophila Courtship Conditioning As a Measure of Learning and Memory.
Ether lipid biosynthesis: alkyl-dihydroxyacetonephosphate synthase protein deficiency leads to reduced dihydroxyacetonephosphate acyltransferase activities.
Functional characterization of novel mutations in GNPAT and AGPS, causing rhizomelic chondrodysplasia punctata (RCDP) types 2 and 3.
Genetic relationship between the Zellweger syndrome and other peroxisomal disorders characterized by an impairment in the assembly of peroxisomes.
Isolated dihydroxyacetonephosphate acyltransferase deficiency presenting with developmental delay.
Rhizomelic chondrodysplasia punctata with isolated DHAP-AT deficiency.
Rhizomelic chrondrodysplasia punctata type 2 resulting from paternal isodisomy of chromosome 1.
Demyelinating Diseases
Leukodystrophy caused by plasmalogen deficiency rescued by glyceryl 1-myristyl ether treatment.
glycerone-phosphate o-acyltransferase deficiency
Abnormal myelination in peroxisomal isolated dihydroxyacetonephosphate acyltransferase deficiency.
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.
Exome sequencing in HFE C282Y homozygous men with extreme phenotypes identifies a GNPAT variant associated with severe iron overload.
Human dihydroxyacetonephosphate acyltransferase deficiency: a new peroxisomal disorder.
Isolated dihydroxyacetonephosphate acyltransferase deficiency presenting with developmental delay.
Isolated dihydroxyacetonephosphate-acyl-transferase deficiency in rhizomelic chondrodysplasia punctata: clinical presentation, metabolic and histological findings.
Neonatal punctate calcifications associated with maternal mixed connective tissue disorder (MCTD).
Rhizomelic chondrodysplasia punctata with isolated DHAP-AT deficiency.
Transformation and characterization of mutant human fibroblasts defective in peroxisome assembly.
Glycogen Storage Disease
Glycerolphosphate acyltransferase, dihydroxyacetonephosphate acyltransferase and carnitine palmitoyltransferase in a glycogen storage disease (gsd/gsd) rat.
Hemochromatosis
Dysregulated hepcidin response to dietary iron in male mice with reduced Gnpat expression.
Further support for the association of GNPAT variant rs11558492 with severe iron overload in hemochromatosis.
Glyceronephosphate O-acyltransferase as a hemochromatosis modifier gene: Another iron in the fire?
GNPAT rs11558492 is not a Major Modifier of Iron Status: Study of Italian Hemochromatosis Patients and Blood Donors.
GNPAT variant (D519G) is not associated with an elevated serum ferritin or iron removed by phlebotomy in patients referred for C282Y-linked hemochromatosis.
GNPAT variant associated with severe iron overload in HFE hemochromatosis.
Increased frequency of GNPAT p.D519G in compound HFE p.C282Y/p.H63D heterozygotes with elevated serum ferritin levels.
The D519G Polymorphism of Glyceronephosphate O-Acyltransferase Is a Risk Factor for Familial Porphyria Cutanea Tarda.
 GNPAT variant (D519G) is not associated with an elevated serum ferritin or iron removed by phlebotomy in patients referred for C282Y-linked hemochromatosis.
Hepatomegaly
Effects of two peroxisome proliferators (ciprofibrate and fenofibrate) on peroxisomal membrane proteins and dihydroxyacetone-phosphate acyl-transferase activity in rat liver.
Zellweger syndrome: diagnostic assays, syndrome delineation, and potential therapy.
Hyperferritinemia
GNPAT variant (D519G) is not associated with an elevated serum ferritin or iron removed by phlebotomy in patients referred for C282Y-linked hemochromatosis.
Increased frequency of GNPAT p.D519G in compound HFE p.C282Y/p.H63D heterozygotes with elevated serum ferritin levels.
Infertility, Male
Comparative studies of mitochondrial proteomics reveal an intimate protein network of male sterility in wheat (Triticum aestivum L.).
Using Transcriptome Analysis to Screen for Key Genes and Pathways Related to Cytoplasmic Male Sterility in Cotton (Gossypium hirsutum L.).
Iron Overload
Dysregulated hepcidin response to dietary iron in male mice with reduced Gnpat expression.
Exome sequencing in HFE C282Y homozygous men with extreme phenotypes identifies a GNPAT variant associated with severe iron overload.
Further support for the association of GNPAT variant rs11558492 with severe iron overload in hemochromatosis.
GNPAT variant (D519G) is not associated with an elevated serum ferritin or iron removed by phlebotomy in patients referred for C282Y-linked hemochromatosis.
GNPAT variant associated with severe iron overload in HFE hemochromatosis.
GNPAT variant is not associated with severe iron overload in Irish C282Y homozygotes.
Increased frequency of GNPAT p.D519G in compound HFE p.C282Y/p.H63D heterozygotes with elevated serum ferritin levels.
 GNPAT variant (D519G) is not associated with an elevated serum ferritin or iron removed by phlebotomy in patients referred for C282Y-linked hemochromatosis.
Liver Cirrhosis
GNPAT rs11558492 is not a Major Modifier of Iron Status: Study of Italian Hemochromatosis Patients and Blood Donors.
Melanoma
Identification of unique sensitizing targets for anti-inflammatory CDDO-Me in metastatic melanoma by a large-scale synthetic lethal RNAi screening.
Muscle Hypotonia
Zellweger syndrome: diagnostic assays, syndrome delineation, and potential therapy.
Neoplasms
Stabilization of FASN by ACAT1-mediated GNPAT acetylation promotes lipid metabolism and hepatocarcinogenesis.
Systems biology analysis of hepatitis C virus infection reveals the role of copy number increases in regions of chromosome 1q in hepatocellular carcinoma metabolism.
Neurologic Manifestations
Abnormal myelination in peroxisomal isolated dihydroxyacetonephosphate acyltransferase deficiency.
Parasitic Diseases
Peroxisomal function is altered during leishmania infection.
Peroxisomal Disorders
Congenital rubella syndrome associated with calcific epiphyseal stippling and peroxisomal dysfunction.
Developmental delay and growth failure caused by a peroxisomal disorder, dihydroxyacetonephosphate acyltransferase (DHAP-AT) deficiency.
Dihydroxyacetone phosphate acyltransferase.
Human dihydroxyacetonephosphate acyltransferase deficiency: a new peroxisomal disorder.
Measurement of dihydroxyacetone-phosphate acyltransferase (DHAPAT) in chorionic villous samples, blood cells and cultured cells.
Neonatal punctate calcifications associated with maternal mixed connective tissue disorder (MCTD).
[Chondrodysplasia punctata (the Conradi-Hünermann syndrome). A clinical case report and review of the literature]
Porphyria Cutanea Tarda
The D519G Polymorphism of Glyceronephosphate O-Acyltransferase Is a Risk Factor for Familial Porphyria Cutanea Tarda.
Porphyrias
The D519G Polymorphism of Glyceronephosphate O-Acyltransferase Is a Risk Factor for Familial Porphyria Cutanea Tarda.
Protein Deficiency
Ether lipid biosynthesis: alkyl-dihydroxyacetonephosphate synthase protein deficiency leads to reduced dihydroxyacetonephosphate acyltransferase activities.
Refsum Disease
Dihydroxyacetone phosphate acyltransferase and alkyldihydroxyacetone phosphate synthase activities in rat liver subcellular fractions and human skin fibroblasts.
Partial deficiency of dihydroxyacetone phosphate acyltransferase activity in both classical and infantile Refsum's diseases.
Refsum Disease, Infantile
Partial deficiency of dihydroxyacetone phosphate acyltransferase activity in both classical and infantile Refsum's diseases.
Starvation
A study of the glycerol phosphate acyltransferase and dihydroxyacetone phosphate acyltransferase activities in rat liver mitochondrial and microsomal fractions. Relative distribution in parenchymal and non-parenchymal cells, effects of N-ethylmaleimide, palmitoyl-coenzyme A concentration, starvation, adrenalectomy and anti-insulin serum treatment.
The activities of lipoprotein lipase and of enzymes involved in triacylglycerol synthesis in rat adipose tissue. Effects of starvation, dietary modification and of corticotropin injection.
Tuberculosis
The three-dimensional structure of N-succinyldiaminopimelate aminotransferase from Mycobacterium tuberculosis.
Zellweger Syndrome
A prenatal test for the cerebro-hepato-renal (Zellweger) syndrome by demonstration of the absence of catalase-containing particles (peroxisomes) in cultured amniotic fluid cells.
Acyl-CoA oxidase, peroxisomal thiolase and dihydroxyacetone phosphate acyltransferase: aberrant subcellular localization in Zellweger syndrome.
Biochemical and morphologic aspects of peroxisomes in the human rectal mucosa: diagnosis of Zellweger syndrome simplified by rectal biopsy.
Defective lipid remodeling of GPI anchors in peroxisomal disorders, Zellweger syndrome, and rhizomelic chondrodysplasia punctata.
Deficiency of enzymes catalyzing the biosynthesis of glycerol-ether lipids in Zellweger syndrome. A new category of metabolic disease involving the absence of peroxisomes.
Diagnosis of Zellweger syndrome by rectal biopsy: immunoblot of peroxisomal beta-oxidation enzyme and activity of dihydroxyacetone phosphate acyltransferase in rectal mucosa.
Neonatal punctate calcifications associated with maternal mixed connective tissue disorder (MCTD).
Partial deficiency of dihydroxyacetone phosphate acyltransferase activity in both classical and infantile Refsum's diseases.
Properties of the enzymes catalyzing the biosynthesis of lysophosphatidate and its ether analog in cultured fibroblasts from Zellweger syndrome patients and normal controls.
Purification of peroxisomal acyl-CoA: dihydroxyacetonephosphate acyltransferase from human placenta.
The cerebro-hepato-renal (Zellweger) syndrome: prenatal detection based on impaired biosynthesis of plasmalogens.
Zellweger syndrome: diagnostic assays, syndrome delineation, and potential therapy.
Zellweger-like syndrome with detectable hepatic peroxisomes: a variant form of peroxisomal disorder.