Restoration of LDL receptor function in cells from patients with autosomal recessive hypercholesterolemia by retroviral expression of ARH1

Journal of Clinical Investigation

Volumn 110, Issue 11, 2002, Pages 1695-1702

  Eden, Emily R ^a   Patel, Dilipkumar D ^a   Sun, Xi Ming ^a   Burden, Jemima J ^a   Themis, Michael ^a   Edwards, Matthew ^b   Lee, Philip ^c   Neuwirth, Clare ^a   Naoumova, Rossitza P ^a   Soutar, Anne K ^a,d  

^a IMPERIAL COLLEGE LONDON   (United Kingdom)

^b ST MARY S HOSPITAL   (United Kingdom)

^c GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^d HAMMERSMITH HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ADAPTOR PROTEIN; LOW DENSITY LIPOPROTEIN RECEPTOR;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CELL LABELING; CHROMOSOME 1P; CONFOCAL MICROSCOPY; FEMALE; FIBROBLAST CULTURE; GENE ACTIVITY; GENE EXPRESSION; GENE FUNCTION; GENE IDENTIFICATION; GENE MAPPING; GENE MUTATION; HUMAN; HUMAN CELL; HUMAN TISSUE; HYPERCHOLESTEROLEMIA; INTERNALIZATION; LYMPHOCYTE TRANSFORMATION; MACROPHAGE; MALE; MONOCYTE; PRIORITY JOURNAL; PROTEIN DEGRADATION; SCHOOL CHILD; SKIN FIBROBLAST;

EID: 0036897341     PISSN: 00219738     EISSN: None     Source Type: Journal    
DOI: 10.1172/JCI0216445     Document Type: Article

References (20)

1. Goldstein, J.L., Hobbs, H., and Brown, M.S. 1995. Familial hypercholesterolemia. In The Metabolic and Molecular Bases of Inherited Disease. C.R. Scriver, A.L. Beaudet, W.S. Sly, and D. Valle, editors. McGraw-Hill, New York, New York, USA. 1981-2030.
2. Norman, D., et al. 1999. Characterization of a novel cellular defect in patients with phenotypic homozygous familial hypercholesterolemia J. Clin. Invest 104:619-628.
3. Eden, E.R., Naoumova, R.P., Burden, J.J., McCarthy, M.I., and Soutar, A.K. 2001. Use of homozygosity mapping to identify a region on chromosome 1 bearing a defective gene that causes autosomal recessive homozygous hypercholesterolemia in two unrelated families. Am. J. Hum. Genet. 68:653-660.
4. Garcia, C.K., et al. 2001. Autosomal recessive hypercholesterolemia caused by mutations in a putative LDL receptor adaptor protein. Science. 292:1394-1398.
5. Zuliani, G., et al. 1999. Characterization of a new form of inherited hypercholesterolemia: Familial recessive hypercholesterolemia. Arterioscler. Thromb. Vasc. Biol. 19:802-809.
6. Sun, X.M., Patel, D.D., Knight, B.L., and Soutar, A.K. 1997. Comparison of the genetic defect with LDL-receptor activity in cultured cells from patients with a clinical diagnosis of heterozygous familial hypercholesterolemia. Arterioscler. Thromb Vasc. Biol. 17:3092-3101.
7. Maniatis, T. 1989. Analysis of genomic DNA by Southern hybridization. In Molecular Cloning: A Laboratory Manual. 2nd Edition. J. Sambrook, E.F. Fritsch, and T. Maniatis, editors. Cold Spring Harbor Laboratory Press. Cold Spring Harbor, New York, USA. 9.31-9.57.
8. Al-Kateb, H., et al. 2002. Mutation in the ARH gene and a chromosome 13q locus influence cholesterol levels in a new form of digenic-recessive familial hypercholesterolemia. Circ. Res. 90:951-958.
9. Arca, M., et al. 2002. Autosomal recessive hypercholesterolaemia in Sardinia, Italy, and mutations in ARH: A clinical and molecular genetic analysis. Lancet. 359:841-847.
10. 2001. Human Cytogenetics. I. Constitutional Analysis. D.E. Rooney, editor. Oxford University Press. Oxford, United Kingdom. 39-188.
11. Knight, B.L., and Soutar, A.K. 1982. Changes in the metabolism of modified and unmodified low-density lipoproteins during the maturation of cultured blood monocyte-macrophages from normal and homozygous familial hypercholesterolaemic subjects. Eur. J. Biochem. 125:407-413.
12. Miller, A., and Rosman, G. 1989. Improved retroviral vectors for gene transfer and expression. Biotechniques. 7:980-990.
13. Pitas, R.E., Innerarity, T.L., and Mahley, R.W. 1983. Foam cells in explants of atherosclerotic rabbit aortas have receptors for beta-very low density lipoproteins and modified low density lipoproteins. Arteriosclerosis. 3:2-12.
14. Hentze, M.W., and Kulozik, A.E. 1999. A perfect message: RNA surveillance and nonsense-mediated decay. Cell. 96:307-310.
15. Knight, B.L., and Soutar, A.K. 1982. Degradation by cultured fibroblasts and macrophages of unmodified and 1,2-cyclohexanedione-modified low-density lipoprotein from normal and homozygous familial hypercholesterolaemic subjects. Biochem. J. 202:145-152.
16. Gaetano, C., et al. 2000 Transcriptionally active drugs improve adenovirus vector performance in vitro and in vivo. Gene Ther. 19:1624-1630.
17. Kirchhausen, T. 1999. Adaptors for clathrin-mediated traffic. Annu. Rev. Cell Dev. Biol. 15:705-732.
18. Pathak, R.K., et al. 1990. Tissue-specific sorting of the human LDL receptor in polarized epithelia of transgenic mice. J. Cell Biol. 111:347-359.
19. Mishra, S.K., et al. 2002. Disabled-2 exhibits the properties of a cargoselective endocytic clathrin adaptor. EMBO J. 21:4915-4926.
20. He, G., et al. 2002. ARH is a modular adaptor protein that interacts with the LDL receptor, clathrin and AP-2. J. Biol. Chem. 277:44044-44049. doi:10.1074/jbc.M208539200.