Search Results - "Lehrman, M A"

A mutation in the human MPDU1 gene causes congenital disorder of glycosylation type If (CDG-If) by Kranz, C, Denecke, J, Lehrman, M A, Ray, S, Kienz, P, Kreissel, G, Sagi, D, Peter-Katalinic, J, Freeze, H H, Schmid, T, Jackowski-Dohrmann, S, Harms, E, Marquardt, T

“…We describe a new congenital disorder of glycosylation, CDG-If. The patient has severe psychomotor retardation, seizures, failure to thrive, dry skin and…”
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Requirement of the Lec35 gene for all known classes of monosaccharide-P-dolichol-dependent glycosyltransferase reactions in mammals by Anand, M, Rush, J S, Ray, S, Doucey, M A, Weik, J, Ware, F E, Hofsteenge, J, Waechter, C J, Lehrman, M A

“…The Lec35 gene product (Lec35p) is required for utilization of the mannose donor mannose-P-dolichol (MPD) in synthesis of both lipid-linked oligosaccharides…”
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Extension of lipid-linked oligosaccharides is a high-priority aspect of the unfolded protein response: endoplasmic reticulum stress in Type I congenital disorder of glycosylation fibroblasts by Shang, Jie, Körner, Christian, Freeze, Hudson, Lehrman, Mark A.

“…Asparagine (N)-linked glycans on endoplasmic reticulum (ER) glycoproteins have critical roles in multiple facets of protein folding and quality control…”
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The Lebanese allele at the low density lipoprotein receptor locus. Nonsense mutation produces truncated receptor that is retained in endoplasmic reticulum by Lehrman, M A, Schneider, W J, Brown, M S, Davis, C G, Elhammer, A, Russell, D W, Goldstein, J L

“…We here describe a mutant low density lipoprotein receptor gene that produces a shortened receptor protein lacking three domains: the region of clustered…”
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Alu-Alu recombination deletes splice acceptor sites and produces secreted low density lipoprotein receptor in a subject with familial hypercholesterolemia by Lehrman, M.A., Russell, D.W., Goldstein, J.L., Brown, M.S.

“…A Japanese subject with homozygous familial hypercholesterolemia was found to have a 7.8-kilobase deletion in the gene for the low density lipoprotein…”
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Both potential dolichol recognition sequences of hamster GlcNAc-1-phosphate transferase are necessary for normal enzyme function by DATTA, A. K, LEHRMAN, M. A

“…A potential dolichol recognition sequence (PDRS) with the 11-residue consensus F-I/V-X-F/Y-X-X-I-P-F-X-F/Y can be found in each of five microsomal enzymes that…”
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Exon-Alu Recombination Deletes 5 Kilobases from the Low Density Lipoprotein Receptor Gene, Producing a Null Phenotype in Familial Hypercholesterolemia by Lehrman, Mark A., Russell, David W., Goldstein, Joseph L., Brown, Michael S.

“…Among patients with familial hypercholesterolemia, half of the mutant alleles at the low density lipoprotein (LDL) receptor locus produce no immunologically…”
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Cloning, sequence, and expression of a cDNA encoding hamster UDP-GlcNAc:dolichol phosphate N-acetylglucosamine-1-phosphate transferase by Zhu, X Y, Lehrman, M A

“…UDP-GlcNAc:dolichol phosphate N-acetylglucosamine-1-phosphate transferase (GPT) catalyzes the initial reaction required for synthesis of…”
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Pleiotropic resistance to glycoprotein processing inhibitors in Chinese hamster ovary cells. The role of a novel mutation in the asparagine-linked glycosylation pathway by LEHRMAN, M. A, YUCHENG ZENG

“…In order to obtain a better understanding of the control mechanisms involved in asparagine-linked glycosylation, we developed conditions under which the…”
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Defective mannosylation of glycosylphosphatidylinositol in Lec35 Chinese hamster ovary cells by CAMP, L. A, PAROO CHAUHAN, FARRAR, J. D, LEHRMAN, M. A

“…The Lec35 mutation (previously designated PIR) of Chinese hamster ovary cells is a recessive mutation that affects the participation of mannose-P-dolichol…”
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Oligosaccharide-based Information in Endoplasmic Reticulum Quality Control and Other Biological Systems by Lehrman, Mark A.

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Conserved sequences in enzymes of the UDP-GlcNAc/MurNAc family are essential in hamster UDP-GlcNAc:dolichol-P GlcNAc-1-P transferase by Dal Nogare, Anthony R., Dan, Ning, Lehrman, Mark A.

“…The UDP-GlcNAc/MurNAc family of eukaryotic and prokaryotic enzymes use UDP-GlcNAc or UDP-MurNAc-pentapeptide as donors, dolichol-P or polyprenol-P as…”
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Duplication of seven exons in LDL receptor gene caused by Alu-Alu recombination in a subject with familial hypercholesterolemia by Lehrman, M A, Goldstein, J L, Russell, D W, Brown, M S

“…A defective LDL receptor gene in a child with familial hypercholesterolemia produces a receptor precursor that is 50,000 daltons larger than normal (apparent…”
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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 by Lehrman, M A, Zhu, X Y, Khounlo, S

“…The first step in the assembly of the dolichol-linked oligosaccharides required for asparagine-linked glycosylation in eukaryotes is catalyzed by a…”
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The distribution and localization of the fucose-binding lectin in rat tissues and the identification of a high affinity form of the mannose/N-acetylglucosamine-binding lectin in rat liver by Haltiwanger, R S, Lehrman, M A, Eckhardt, A E, Hill, R L

“…A small-scale affinity chromatographic procedure was developed to screen for the presence of fucose and mannose/N-acetylglucosamine-binding lectins in small…”
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Role of the carboxyl terminus in stable expression of hamster UDP-GlcNAc:dolichol-P GlcNAc-1-P transferase by ZARA, J, LEHRMAN, M. A

“…In order to examine the function of the carboxyl terminus of UDP-GlcNAc:dolichol-P GlcNAc-1-P transferase (GPT), an endoplasmic reticulum enzyme that…”
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The binding of fucose-containing glycoproteins by hepatic lectins. Purification of a fucose-binding lectin from rat liver by Lehrman, M A, Hill, R L

“…A lectin with a high affinity for binding ligands through fucose residues has been purified to homogeneity from rat liver. Affinity chromatography of the…”
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Mutation in LDL Receptor: Alu-Alu Recombination Deletes Exons Encoding Transmembrane and Cytoplasmic Domains by Lehrman, Mark A., Schneider, Wolfgang J., Südhof, Thomas C., Brown, Michael S., Goldstein, Joseph L., Russell, David W.

“…The molecular size of the plasma LDL (low density lipoprotein) receptor synthesized by cultured fibroblasts from a patient with the internalization-defective…”
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Evidence that the hamster tunicamycin resistance gene encodes UDP-GlcNAc:dolichol phosphate N-acetylglucosamine-1-phosphate transferase by XIAYING ZHU, YUCHENG ZENG, LEHRMAN, M. A

“…A cDNA clone isolated from Chinese hamster ovary cells conferred elevated GlcNAc-1-P-transferase (GPT) activity and resistance to tunicamycin in transfected…”
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Internalization-defective LDL receptors produced by genes with nonsense and frameshift mutations that truncate the cytoplasmic domain by Lehrman, M A, Goldstein, J L, Brown, M S, Russell, D W, Schneider, W J

“…Certain mutant alleles at the low density lipoprotein (LDL) receptor locus produce receptors that bind LDL normally, but fail to cluster in coated pits and…”
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