Molecular genetics of the LDL receptor gene in familial hypercholesterolemia

Human Mutation - Tập 1 Số 6 - Trang 445-466 - 1992
Helen H. Hobbs1, Michael S. Brown2, Joseph L. Goldstein2
1Department of Molecular Genetics, University of Texas Southwestern Medical Center, Dallas 75235.
2Departments of Molecular Genetics and Internal Medicine, University of Texas Southwestern Medical Center at Dallas, Dallas, Texas 75235

Tóm tắt

Từ khóa


Tài liệu tham khảo

Aalto-Setälä, 1988, FEBS, 234, 411, 10.1016/0014-5793(88)80127-3

Aalto-Setälä, 1992, J Intern Med, 231, 227, 10.1111/j.1365-2796.1992.tb00528.x

Amara, 1992, Trends Cell Biol, 2, 145, 10.1016/0962-8924(92)90101-R

Anderson, 1977, Cell, 10, 351, 10.1016/0092-8674(77)90022-8

Backer, 1992, J Cell Biol, 118, 831, 10.1083/jcb.118.4.831

Bansal, 1991, Cell, 67, 1195, 10.1016/0092-8674(91)90295-A

Barber, 1991, J Biol Chem, 266, 18761, 10.1016/S0021-9258(18)55128-0

Beisiegel, 1991, Proc Natl Acad Sci USA, 88, 8342, 10.1073/pnas.88.19.8342

Bertolini, 1992, Am J Hum Genet, 51, 123

Bilheimer, 1985, Am J Med Genet, 22, 593, 10.1002/ajmg.1320220318

Britten, 1988, Proc Natl Acad Sci USA, 85, 4770, 10.1073/pnas.85.13.4770

Brown, 1976, Cell, 9, 663, 10.1016/0092-8674(76)90130-6

Brown, 1986, Science, 232, 34, 10.1126/science.3513311

Brown, 1991, Current Opinion Lipidol, 2, 65, 10.1097/00041433-199104000-00002

Bu, 1992, Proc Natl Acad Sci USA, 89, 7427, 10.1073/pnas.89.16.7427

Chen, 1990, J Biol Chem, 265, 3116, 10.1016/S0021-9258(19)39742-X

Collawn, 1991, EMBO J, 10, 3247, 10.1002/j.1460-2075.1991.tb04888.x

Cooper, 1988, Hum Genet, 78, 151, 10.1007/BF00278187

Davis, 1986, Cell, 45, 15, 10.1016/0092-8674(86)90533-7

Davis, 1987a, Nature (London), 326, 760, 10.1038/326760a0

Davis, 1987b, J Biol Chem, 262, 4075, 10.1016/S0021-9258(18)61313-4

Esser, 1988, J Biol Chem, 263, 13276, 10.1016/S0021-9258(18)37701-9

Fourie, 1988, Biochem J, 255, 411, 10.1042/bj2550411

Fumeron, 1991, N Engl J Med, 326, 69

Gething, 1992, Nature (London), 355, 33, 10.1038/355033a0

Goldstein, 1973, J Clin Invest, 52, 1544, 10.1172/JCI107332

Goldstein, 1979, Nature (London), 279, 679, 10.1038/279679a0

Goldstein, 1983, Methods Enzymol, 98, 241, 10.1016/0076-6879(83)98152-1

Goldstein, 1985, Annu Rev Cell Biol, 1, 1, 10.1146/annurev.cb.01.110185.000245

(1989) Familial hypercholesterolemia. In, The Metabolic Basis of Inherited Disease. (eds): New York: McGraw-Hill, pp 1215-1250.

Goldstein, 1990, Nature (London), 343, 425, 10.1038/343425a0

Henderson, 1988, Hum Genet, 80, 371, 10.1007/BF00273653

Herz, 1988, EMBO J, 7, 4119, 10.1002/j.1460-2075.1988.tb03306.x

Hobbs, 1986, J Biol Chem, 261, 13114, 10.1016/S0021-9258(18)69278-6

Hobbs, 1987, N Engl J Med, 317, 734, 10.1056/NEJM198709173171204

Hobbs, 1988, J Clin Invest, 81, 909, 10.1172/JCI113402

Hobbs, 1989, J Clin Invest, 84, 656, 10.1172/JCI114212

Hobbs, 1990, Annu Rev Genet, 24, 133, 10.1146/annurev.ge.24.120190.001025

Horsthemke, 1987a, Eur J Biochem, 164, 77, 10.1111/j.1432-1033.1987.tb10995.x

Horsthemke, 1987b, J Med Genet, 24, 144, 10.1136/jmg.24.3.144

Hu, 1991, EMBO J, 10, 2471, 10.1002/j.1460-2075.1991.tb07786.x

Hwu, 1986, Proc Natl Acad Sci USA, 83, 3875, 10.1073/pnas.83.11.3875

Jelinek, 1982, Annu Rev Biochem, 51, 813, 10.1146/annurev.bi.51.070182.004121

Kajinami, 1988, Arteriosclerosis, 8, 187, 10.1161/01.ATV.8.2.187

Kajinami, 1990, J Intern Med, 227, 247, 10.1111/j.1365-2796.1990.tb00153.x

Kajinami, 1991, Circulation, 80

Kelley, 1987, Cell, 51, 539, 10.1016/0092-8674(87)90123-1

King-Underwood, 1991, Clin Genet, 40, 17, 10.1111/j.1399-0004.1991.tb03064.x

Knight, 1989, Eur J Biochem, 179, 693, 10.1111/j.1432-1033.1989.tb14602.x

Koivisto, 1992a, Arterio Thromb, 12, 584, 10.1161/01.ATV.12.5.584

Koivisto, 1992b, J Clin Invest, 90, 219, 10.1172/JCI115839

Kornfeld, 1992, Annu Rev Biochem, 61, 307, 10.1146/annurev.bi.61.070192.001515

Kotze, 1989, S Afr Med J, 76, 399

Kotze, 1991, Ann Hum Genet, 55, 115, 10.1111/j.1469-1809.1991.tb00404.x

Kounnas, 1992, J Biol Chem, 267, 12420, 10.1016/S0021-9258(18)42291-0

Kristensen, 1990, FEBS Lett, 276, 151, 10.1016/0014-5793(90)80530-V

Landsberger, 1992, Am J Hum Genet, 50, 427

Langlois, 1988, Am J Hum Genet, 43, 60

Lee, 1991, DNA Cell Biol, 10, 67, 10.1089/dna.1991.10.67

Lehrman, 1985a, Cell, 41, 735, 10.1016/S0092-8674(85)80054-4

Lehrman, 1985b, Science, 227, 140, 10.1126/science.3155573

Lehrman, 1986, Proc Natl Acad Sci USA, 83, 3679, 10.1073/pnas.83.11.3679

Lehrman, 1987a, Cell, 48, 827, 10.1016/0092-8674(87)90079-1

Lehrman, 1987b, J Biol Chem, 262, 3354, 10.1016/S0021-9258(18)61510-8

Lehrman, 1987c, J Biol Chem, 262, 401, 10.1016/S0021-9258(19)75941-9

Leitersdorf, 1988, Proc Natl Acad Sci USA, 85, 7912, 10.1073/pnas.85.21.7912

Leitersdorf, 1989a, Am J Med Genet, 44, 409

Leitersdorf, 1989b, J Clin Invest, 84, 954, 10.1172/JCI114258

Leitersdorf, 1990, J Clin Invest, 85, 1014, 10.1172/JCI114531

(1992) A missense mutation in the low density lipoprotein receptor gene causes familial hypercholesterolemia in Sephardic Jews. Hum Genet, in press.

Lelli, 1991a, Hum Genet, 86, 359, 10.1007/BF00201833

Lelli, 1991b, Arterio Thromb, 11, 234, 10.1161/01.ATV.11.2.234

Loux, 1991, Hum Genet, 87, 373, 10.1007/BF00200923

Ma, 1989, Clin Genet, 36, 219, 10.1111/j.1399-0004.1989.tb03194.x

Mahley, 1986, Cold Spring Harbor Symp, 51, 821, 10.1101/SQB.1986.051.01.095

Mehta, 1991, J Biol Chem, 266, 10406, 10.1016/S0021-9258(18)99240-9

Meiner, 1991, Am J Hum Genet, 49, 443

Miyake, 1989, J Biol Chem, 264, 16584, 10.1016/S0021-9258(19)84746-4

Moorjani, 1989, Arteriosclerosis, 9, 211, 10.1161/01.ATV.9.2.211

Mullis, 1987, Methods Enzymol, 155, 335, 10.1016/0076-6879(87)55023-6

Neote, 1990, J Clin Invest, 86, 1524, 10.1172/JCI114871

Nora, 1985, Am J Med Genet, 22, 585, 10.1002/ajmg.1320220317

Orita, 1989a, Proc Natl Acad Sci USA, 86, 2766, 10.1073/pnas.86.8.2766

Orita, 1989b, Genomics, 5, 874, 10.1016/0888-7543(89)90129-8

Orth, 1992, Proc Natl Acad Sci USA, 89, 7422, 10.1073/pnas.89.16.7422

Raychowdhury, 1989, Science, 244, 1163, 10.1126/science.2786251

Rebay, 1991, Cell, 67, 687, 10.1016/0092-8674(91)90064-6

Rüdiger, 1991a, Eur J Biochem, 198, 107, 10.1111/j.1432-1033.1991.tb15992.x

Rüdiger, 1991b, Clin Genet, 39, 451, 10.1111/j.1399-0004.1991.tb03057.x

Russell, 1987, Cold Spring Harbor Symp Quant Biol, 51, 811, 10.1101/SQB.1986.051.01.094

Russell, 1989, J Biol Chem, 264, 21682, 10.1016/S0021-9258(20)88240-4

Schneider, 1983, Mol Biol Med, 1, 353

Seftel, 1989, Am J Med Genet, 34, 545, 10.1002/ajmg.1320340418

Slack, 1979, Atheroscler Rev, 5, 35

Smith, 1990, J Biol Chem, 265, 2306, 10.1016/S0021-9258(19)39976-4

Soutar, 1989, Proc Natl Acad Sci USA, 86, 4166, 10.1073/pnas.86.11.4166

Stacpoole, 1981, J Clin Invest, 68, 1166, 10.1172/JCI110361

Strickland, 1990, J Biol Chem, 265, 17401, 10.1016/S0021-9258(18)38172-9

Südhof, 1985, Science, 228, 815, 10.1126/science.2988123

Sun, 1992, Arterioscler Thromb, 12, 762, 10.1161/01.ATV.12.7.762

Takahashi, 1992, Proc Natl Acad Sci USA, 89, 9252, 10.1073/pnas.89.19.9252

Taylor, 1989, J Med Genet, 26, 494, 10.1136/jmg.26.8.494

Top, 1990, Atherosclerosis, 83, 127, 10.1016/0021-9150(90)90158-F

Trecartin, 1981, J Clin Invest, 68, 1012, 10.1172/JCI110323

Uauy, 1991, J Clin Endocrinol Metab, 72, 179, 10.1210/jcem-72-1-179

van der Westhuyzen, 1984, Arteriosclerosis, 4, 238, 10.1161/01.ATV.4.3.238

van der Westhuyzen, 1991, Biochem J, 278, 677, 10.1042/bj2770677

van Roggen, 1991, Hum Genet, 88, 204, 10.1007/BF00206073

van Wingerden, 1981, S Afr Med J, 60, 554

Vaux, 1992, Trends Cell Biol, 2, 189, 10.1016/0962-8924(92)90232-C

Vega, 1991, Arterioscler Thromb, 11, 578, 10.1161/01.ATV.11.3.578

Webb, 1992, J Lipid Res, 33, 689, 10.1016/S0022-2275(20)41433-6

Willnow, 1992, J Biol Chem, 267, 26172, 10.1016/S0021-9258(18)35732-6

Yamakawa, 1989, Hum Genet, 82, 317, 10.1007/BF00273989

Yamamoto, 1984, Cell, 39, 27, 10.1016/0092-8674(84)90188-0

Yamamoto, 1986, Science, 232, 1230, 10.1126/science.3010466