Lehrman MA - Search Results

1

The J.D. mutation in familial hypercholesterolemia: amino acid substitution in cytoplasmic domain impedes internalization of LDL receptors.

Davis CG, Lehrman MA, Russell DW, Anderson RG, Brown MS, Goldstein JL. Davis CG, et al. Among authors: lehrman ma. Cell. 1986 Apr 11;45(1):15-24. doi: 10.1016/0092-8674(86)90533-7. Cell. 1986. PMID: 3955657

2

The LDL receptor in familial hypercholesterolemia: use of human mutations to dissect a membrane protein.

Russell DW, Lehrman MA, Südhof TC, Yamamoto T, Davis CG, Hobbs HH, Brown MS, Goldstein JL. Russell DW, et al. Among authors: lehrman ma. Cold Spring Harb Symp Quant Biol. 1986;51 Pt 2:811-9. doi: 10.1101/sqb.1986.051.01.094. Cold Spring Harb Symp Quant Biol. 1986. PMID: 3472763

3

Duplication of seven exons in LDL receptor gene caused by Alu-Alu recombination in a subject with familial hypercholesterolemia.

Lehrman MA, Goldstein JL, Russell DW, Brown MS. Lehrman MA, et al. Cell. 1987 Mar 13;48(5):827-35. doi: 10.1016/0092-8674(87)90079-1. Cell. 1987. PMID: 3815525

4

Internalization-defective LDL receptors produced by genes with nonsense and frameshift mutations that truncate the cytoplasmic domain.

Lehrman MA, Goldstein JL, Brown MS, Russell DW, Schneider WJ. Lehrman MA, et al. Cell. 1985 Jul;41(3):735-43. doi: 10.1016/s0092-8674(85)80054-4. Cell. 1985. PMID: 3924410

5

Exon-Alu recombination deletes 5 kilobases from the low density lipoprotein receptor gene, producing a null phenotype in familial hypercholesterolemia.

Lehrman MA, Russell DW, Goldstein JL, Brown MS. Lehrman MA, et al. Proc Natl Acad Sci U S A. 1986 Jun;83(11):3679-83. doi: 10.1073/pnas.83.11.3679. Proc Natl Acad Sci U S A. 1986. PMID: 3012527 Free PMC article.

6

The Lebanese allele at the low density lipoprotein receptor locus. Nonsense mutation produces truncated receptor that is retained in endoplasmic reticulum.

Lehrman MA, Schneider WJ, Brown MS, Davis CG, Elhammer A, Russell DW, Goldstein JL. Lehrman MA, et al. J Biol Chem. 1987 Jan 5;262(1):401-10. J Biol Chem. 1987. PMID: 3025214 Free article.

7

Mutation in LDL receptor: Alu-Alu recombination deletes exons encoding transmembrane and cytoplasmic domains.

Lehrman MA, Schneider WJ, Südhof TC, Brown MS, Goldstein JL, Russell DW. Lehrman MA, et al. Science. 1985 Jan 11;227(4683):140-6. doi: 10.1126/science.3155573. Science. 1985. PMID: 3155573 Free PMC article.

8

Alu-Alu recombination deletes splice acceptor sites and produces secreted low density lipoprotein receptor in a subject with familial hypercholesterolemia.

Lehrman MA, Russell DW, Goldstein JL, Brown MS. Lehrman MA, et al. J Biol Chem. 1987 Mar 5;262(7):3354-61. J Biol Chem. 1987. PMID: 3818645 Free article.

9

Polymorphism and evolution of Alu sequences in the human low density lipoprotein receptor gene.

Hobbs HH, Lehrman MA, Yamamoto T, Russell DW. Hobbs HH, et al. Among authors: lehrman ma. Proc Natl Acad Sci U S A. 1985 Nov;82(22):7651-5. doi: 10.1073/pnas.82.22.7651. Proc Natl Acad Sci U S A. 1985. PMID: 2999774 Free PMC article.

10

Amplification and molecular cloning of the hamster tunicamycin-sensitive N-acetylglucosamine-1-phosphate transferase gene. The hamster and yeast enzymes share a common peptide sequence.

Lehrman MA, Zhu XY, Khounlo S. Lehrman MA, et al. J Biol Chem. 1988 Dec 25;263(36):19796-803. J Biol Chem. 1988. PMID: 2848842 Free article.

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