In vitro expression of structural defects in the lecithin-cholesterol acyltransferase gene. (Q52509864)

2 May 2018

title

In vitro expression of structural defects in the lecithin-cholesterol acyltransferase gene. (English)

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2 May 2018

4

Marcovina S

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2 May 2018

author name string

Klein HG

1

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2 May 2018

Duverger N

2

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Albers JJ

3

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Brewer HB Jr

5

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Santamarina-Fojo S

6

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2 May 2018

language of work or name

English

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publication date

1 April 1995

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2 May 2018

Journal of Biological Chemistry

published in

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2 May 2018

volume

270

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issue

16

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2 May 2018

page(s)

9443-9447

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2 May 2018

Effects of inhibitors of N-linked oligosaccharide processing on the secretion, stability, and activity of lecithin:cholesterol acyltransferase

cites work

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The isolation and characterisation of a cDNA clone for human lecithin:cholesterol acyl transferase and its use to analyse the genes in patients with LCAT deficiency and fish eye disease

21 January 2018

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Effects of site-directed mutagenesis at residues cysteine-31 and cysteine-184 on lecithin-cholesterol acyltransferase activity

21 January 2018

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Structure-function relationships in human lecithin:cholesterol acyltransferase. Site-directed mutagenesis at serine residues 181 and 216.

21 January 2018

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Lecithin-cholesterol acyltransferase: effects of mutagenesis at N-linked oligosaccharide attachment sites on acyl acceptor specificity

21 January 2018

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Lecithin cholesterol acyl transferase deficiency: molecular analysis of a mutated allele

21 January 2018

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A molecular defect causing fish eye disease: an amino acid exchange in lecithin-cholesterol acyltransferase (LCAT) leads to the selective loss of alpha-LCAT activity

21 January 2018

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Two different allelic mutations in the lecithin-cholesterol acyltransferase gene associated with the fish eye syndrome. Lecithin-cholesterol acyltransferase (Thr123----Ile) and lecithin-cholesterol acyltransferase (Thr347----Met)

21 January 2018

1 reference

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An amino acid exchange in exon I of the human lecithin: cholesterol acyltransferase (LCAT) gene is associated with fish eye disease

21 January 2018

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Lecithin-cholesterol acyltransferase (LCAT) deficiency with a missense mutation in exon 6 of the LCAT gene

21 January 2018

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Differential phenotypic expression by three mutant alleles in familial lecithin:cholesterol acyltransferase deficiency

21 January 2018

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Molecular defect in familial lecithin:cholesterol acyltransferase (LCAT) deficiency: a single nucleotide insertion in LCAT gene causes a complete deficient type of the disease

21 January 2018

1 reference

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Fish eye syndrome: a molecular defect in the lecithin-cholesterol acyltransferase (LCAT) gene associated with normal alpha-LCAT-specific activity. Implications for classification and prognosis

21 January 2018

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Human lecithin-cholesterol acyltransferase gene: complete gene sequence and sites of expression

21 January 2018

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Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia

21 January 2018

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[21] Specific synthesis of DNA in vitro via a polymerase-catalyzed chain reaction

21 January 2018

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Lipoprotein lipaseBethesda: a single amino acid substitution (Ala-176----Thr) leads to abnormal heparin binding and loss of enzymic activity

21 January 2018

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A dye-buoyant-density method for the detection and isolation of closed circular duplex DNA: the closed circular DNA in HeLa cells

21 January 2018

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Site-directed mutagenesis by overlap extension using the polymerase chain reaction

21 January 2018

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Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease

21 January 2018

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Radioimmunoassay of human plasma lecithin-cholesterol acyltransferase

21 January 2018

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Determination of Lecithin: Cholesterol Acyltransfer in Human Blood Plasma

21 January 2018

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Analysis of the accuracy and implications of simple methods for predicting the secondary structure of globular proteins

21 January 2018

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A program for prediction of protein secondary structure from nucleotide sequence data: application to histocompatibility antigens

21 January 2018

1 reference

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The genetic defect of the original Norwegian lecithin:cholesterol acyltransferase deficiency families

21 January 2018

1 reference

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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

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.270.16.9443

21 January 2018

Identifiers

DOI

10.1074/JBC.270.16.9443

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2 May 2018

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2 May 2018