Literature DB >> 6805319

Detection of heterozygotes for familial lecithin: cholesterol acyltransferase (LCAT) deficiency.

J Frohlich, K Hon, R McLeod.   

Abstract

"Rocket" immunoelectrophoresis using specific anti-lecithin: cholesterol acyltransferase (LCAT) antiserum showed no immunoreactive protein in two patients with familial LCAT deficiency. Subnormal quantity of plasma LCAT was found in the maternal grandmother, the parents, and in two of four siblings of the patients (3.3-3.4 mg/l vs. 5.4 +/- 0.5 mg/l in 12 controls). The immunochemical quantitation of the enzyme correlated well (r = .93) with LCAT activity in an artificial substrate assay. These two methods allow detection of heterozygotes for LCAT deficiency.

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Year:  1982        PMID: 6805319      PMCID: PMC1685214     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN: 0002-9297            Impact factor:   11.025


  23 in total

1.  A comprehensive evaluation of the heparin-manganese precipitation procedure for estimating high density lipoprotein cholesterol.

Authors:  G R Warnick; J J Albers
Journal:  J Lipid Res       Date:  1978-01       Impact factor: 5.922

2.  A method for the purification of milligram quantities of stable human phosphatidylcholine-cholesterol acyltransferase.

Authors:  K G Varma; L A Soloff
Journal:  Biochem J       Date:  1976-06-01       Impact factor: 3.857

3.  Studies on enzymatic and molecular properties of lecithin:cholesterol acyltransferase.

Authors:  A G Lacko; K G Varma; H L Rutenberg; L A Soloff
Journal:  Scand J Clin Lab Invest Suppl       Date:  1974

4.  Phospholipid substrate specificity of purified human plasma lecithin:cholesterol acyltransferase.

Authors:  C J Fielding
Journal:  Scand J Clin Lab Invest Suppl       Date:  1974

5.  Rocket immunoelectrophoresis.

Authors:  B Weeke
Journal:  Scand J Immunol Suppl       Date:  1973

6.  Lipoproteins in LCAT-deficiency.

Authors:  G Utermann; W Schoenborn; K H Langer; P Dieker
Journal:  Humangenetik       Date:  1972

7.  Determination of lecithin: cholesterol acyltransfer in human blood plasma.

Authors:  K T Stokke; K R Norum
Journal:  Scand J Clin Lab Invest       Date:  1971-02       Impact factor: 1.713

8.  Letter: Primary L.C.A.T.-deficiency disease.

Authors:  A J Bron; J K Lloyd; A S Fosbrooke; A F Winder; R C Tripathi
Journal:  Lancet       Date:  1975-04-19       Impact factor: 79.321

9.  Purification and characterization of human plasma lecithin:cholesterol acyltransferase.

Authors:  J J Albers; V G Cabana; Y Dee Barden Stahl
Journal:  Biochemistry       Date:  1976-03-09       Impact factor: 3.162

10.  Genetics of LCAT (lecithin: cholesterol acyltransferase) deficiency.

Authors:  P Teisberg; E Gjone; B Olaisen
Journal:  Ann Hum Genet       Date:  1975-01       Impact factor: 1.670

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  2 in total

1.  Genetic and phenotypic heterogeneity in familial lecithin: cholesterol acyltransferase (LCAT) deficiency. Six newly identified defective alleles further contribute to the structural heterogeneity in this disease.

Authors:  H Funke; A von Eckardstein; P H Pritchard; A E Hornby; H Wiebusch; C Motti; M R Hayden; C Dachet; B Jacotot; U Gerdes
Journal:  J Clin Invest       Date:  1993-02       Impact factor: 14.808

Review 2.  A systematic review of the natural history and biomarkers of primary lecithin:cholesterol acyltransferase deficiency.

Authors:  Cecilia Vitali; Archna Bajaj; Christina Nguyen; Jill Schnall; Jinbo Chen; Kostas Stylianou; Daniel J Rader; Marina Cuchel
Journal:  J Lipid Res       Date:  2022-01-20       Impact factor: 5.922

  2 in total

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