A point mutation in ABC1 gene in a patient with severe premature coronary heart disease and mild clinical phenotype of Tangier disease

Atherosclerosis

Volumn 154, Issue 3, 2001, Pages 599-605

  Bertolini, S ^a   Pisciotta, L ^a   Seri, M ^b   Cusano, R ^b   Cantafora, A ^c   Calabresi, L ^d   Franceschini, G ^d   Ravazzolo, R ^b   Calandra, S ^e  

^a UNIVERSITY OF GENOA   (Italy)

^b G GASLINI INSTITUTE   (Italy)

^c ISTITUTO SUPERIORE DI SANITÀ   (Italy)

^d UNIVERSITY OF MILAN   (Italy)

^e UNIVERSITY OF MODENA AND REGGIO EMILIA   (Italy)

Author keywords

ABC1 gene; Coronary heart disease; Low HDL cholesterol; Tangier disease

Indexed keywords

ADENOSINE TRIPHOSPHATE; APOLIPOPROTEIN A1; APOLIPOPROTEIN A2; APOLIPOPROTEIN B; COMPLEMENTARY DNA; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; LOW DENSITY LIPOPROTEIN CHOLESTEROL; RNA;

ADULT; ALLELE; ANEMIA; ANGINA PECTORIS; ARTICLE; CASE REPORT; CHOLESTEROL BLOOD LEVEL; CHROMOSOME 9Q; CONTROLLED STUDY; CORNEA INJURY; CORONARY ARTERY BYPASS SURGERY; DISEASE ASSOCIATION; DISEASE SEVERITY; ENZYME MECHANISM; EXON; FEMALE; GENE SEQUENCE; HAPLOTYPE; HEPATOMEGALY; HOMOZYGOSITY; HUMAN; ISCHEMIC HEART DISEASE; LIPOPROTEIN BLOOD LEVEL; NUCLEOTIDE SEQUENCE; PERIPHERAL NEUROPATHY; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; SPLENOMEGALY; TANGIER DISEASE;

AMINO ACID SEQUENCE; ATP-BINDING CASSETTE TRANSPORTERS; BASE SEQUENCE; CHROMOSOMES, HUMAN, PAIR 9; CORONARY DISEASE; FEMALE; GENETIC SCREENING; GENOTYPE; GLYCOPROTEINS; HUMANS; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PHENOTYPE; POINT MUTATION; POLYMORPHISM, GENETIC; SEVERITY OF ILLNESS INDEX; TANGIER DISEASE;

EID: 0035864640     PISSN: 00219150     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0021-9150(00)00587-6     Document Type: Article

References (21)

1. Familial high density lipoprotein deficiency: Tangier disease
2. Homozygous Tangier disease and cardiovascular disease
3. Assignment of Tangier disease to chromosome 9q31 by a graphical linkage exclusion strategy
4. The gene encoding ATP-binding cassette transporter 1 is mutated in Tangier disease
5. Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency
6. The Tangier disease gene product ABC1 controls the cellular apolipoprotein-mediated lipid removal pathway
7. Human ATP-binding cassette transporter 1 (ABC1): Genomic organization and identification of the genetic defect in the original Tangier disease kindred
8. Tangier disease is caused by mutations in the gene encoding ATP-binding cassette transporter 1
9. Novel mutations in the gene encoding ATP-binding cassette 1 in four Tangier disease kindreds
10. An inventory of the human ABC proteins
11. Transport of lipids from Golgi to plasma membrane is defective in Tangier disease patients and Abc1-deficient mice
12. Mutations in the ABC1 gene in familial HDL deficiency with defective cholesterol efflux
13. Triglycerides are major determinants of cholesterol esterification/transfer and HDL remodelling in human plasma
14. The pathology of cornea in Tangier disease (familial high density lipoprotein deficiency)
15. HDL-mediated efflux of intracellular cholesterol is impaired in fibroblasts from Tangier disease patients
16. Defective removal of cellular cholesterol and phospholipids by apolipoprotein A-I in Tangier disease
17. Decreased reverse cholesterol transport from Tangier disease fibroblasts. Acceptor specificity and effect of brefeldin on lipid efflux
18. Plasma and fibroblasts of Tangier disease patients are disturbed in transferring phospholipids onto apolipoprotein A-I
19. Cellular cholesterol transport and efflux in fibroblasts are abnormal in subjects with familial HDL deficiency
20. Molecular cloning of the human ATP-binding cassette transporter 1 (hABC1): Evidence for sterol-dependent regulation in macrophages
21. Genotype/phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease