ABCMdb

ABCA1 p.Cys733Arg

None has been submitted yet.

Publications

PMID: 15066991 [PubMed] Kockx M et al: "Apolipoprotein A-I-stimulated apolipoprotein E secretion from human macrophages is independent of cholesterol efflux."

No. Sentence Comment

7 Finally, apoA-I stimulates apoE secretion normally from macrophages of two unrelated subjects with genetically confirmed Tangier Disease (mutations C733R and c.5220-5222delTCT; and mutations A1046D and c.4629-4630insA), despite severely inhibited cholesterol efflux. Login to comment
127 Two novel amino acid mutations within the ABCA1 gene were found: C733R in exon 16 (c.2197CϾT) and a deletion of three nucleotides in exon 38 (c.5220-5222delTCT) on different alleles as shown by segregation analysis (numbering follows recommendations of the international nomenclature working group). Login to comment
310 The first subject with TD (TD1, see "Experimental Procedures"), was a compound heterozygote for the novel ABCA1 mutations C733R in exon 16 and a deletion of three nucleotides (c.5220-5222 delTCT) in exon 38 (TD1-HMDM). Login to comment
348 Subject Mutation HDL-C Basal apoE secretion ApoA-I-specific cholesterol efflux ApoA-I-stimulated apoE secretion mg/dL ␮g/mg cell protein ␮g/mg cell protein Aa HC1 44.0b 2.2 Ϯ 0.49b 3.1 Ϯ 0.5b 6.3 Ϯ 0.9 TD1 C733R;C.5220-5222delTCT 3.1 0.5 Ϯ 0.21 0.5 Ϯ 0.5 5.6 Ϯ 1.2 Bc HC2 43.0d 1.1 Ϯ 1.6 2.2 Ϯ 0.4d 4.2 Ϯ 1.0 TD2d A1046D;4629insA 2.7 NDe 0.2 Ϯ 0.2 3.8 Ϯ 0.7 HZ2A 4629insA 25.8d ND 1.9 Ϯ 0.3d 2.6 Ϯ 0.6 HZ2B A1046D 38.6d 1.4 Ϯ 0.2 2.8 Ϯ 0.1d 4.5 Ϯ 0.9 a Part A: macrophages from newly characterized TD1 and unrelated control subject HC1 were compared for cholesterol efflux and apoE secretion in the presence and absence of 25 ␮g/ml apoA-I. Cholesterol efflux and apoE secretion were determined at 8 h, and apoA-I-specific efflux derived by subtracting efflux to control medium (without A-I) from that to apoA-I. b Conditions are significantly different between HC1 and TD1, p Ͻ 0.01. c Part B: TD2 has previously been described (44). Login to comment
128 Two novel amino acid mutations within the ABCA1 gene were found: C733R in exon 16 (c.2197Cb0e;T) and a deletion of three nucleotides in exon 38 (c.5220-5222delTCT) on different alleles as shown by segregation analysis (numbering follows recommendations of the international nomenclature working group). Login to comment
309 The first subject with TD (TD1, see "Experimental Procedures"), was a compound heterozygote for the novel ABCA1 mutations C733R in exon 16 and a deletion of three nucleotides (c.5220-5222 delTCT) in exon 38 (TD1-HMDM). Login to comment
346 Subject Mutation HDL-C Basal apoE secretion ApoA-I-specific cholesterol efflux ApoA-I-stimulated apoE secretion mg/dL òe;g/mg cell protein òe;g/mg cell protein Aa HC1 44.0b 2.2 afe; 0.49b 3.1 afe; 0.5b 6.3 afe; 0.9 TD1 C733R;C.5220-5222delTCT 3.1 0.5 afe; 0.21 0.5 afe; 0.5 5.6 afe; 1.2 Bc HC2 43.0d 1.1 afe; 1.6 2.2 afe; 0.4d 4.2 afe; 1.0 TD2d A1046D;4629insA 2.7 NDe 0.2 afe; 0.2 3.8 afe; 0.7 HZ2A 4629insA 25.8d ND 1.9 afe; 0.3d 2.6 afe; 0.6 HZ2B A1046D 38.6d 1.4 afe; 0.2 2.8 afe; 0.1d 4.5 afe; 0.9 a Part A: macrophages from newly characterized TD1 and unrelated control subject HC1 were compared for cholesterol efflux and apoE secretion in the presence and absence of 25 òe;g/ml apoA-I. Cholesterol efflux and apoE secretion were determined at 8 h, and apoA-I-specific efflux derived by subtracting efflux to control medium (without A-I) from that to apoA-I. b Conditions are significantly different between HC1 and TD1, p b0d; 0.01. c Part B: TD2 has previously been described (44). Login to comment