Search Results - "NAGAN, N"

UNIPARENTAL DISOMY OF CHROMOSOME 1 CAUSING CONCURRENT CHARCOT-MARIE-TOOTH AND GAUCHER DISEASE TYPE 3 by BENKO, W. S, HRUSKA, K. S, NAGAN, N, GOKER-ALPAN, O, HART, P. S, SCHIFFMANN, R, SIDRANSKY, E

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In cis autosomal dominant mutation of Senataxin associated with tremor/ataxia syndrome by BASSUK, A. G, CHEN, Y. Z, BATISH, S. D, NAGAN, N, OPAL, P, CHANCE, P. F, BENNETT, C. L

“…Senataxin mutations are the molecular basis of two distinct syndromes: (1) ataxia oculomotor apraxia type 2 (AOA2) and (2) juvenile amyotrophic lateral…”
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Modulation of lysyl oxidase activity toward peptidyl lysine by vicinal dicarboxylic amino acid residues. Implications for collagen cross-linking by Nagan, N, Kagan, H M

“…The substrate specificity of lysyl oxidase has been explored with synthetic oligopeptides. kcat/Km increased with increasing peptide length in…”
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Plasmalogens: biosynthesis and functions by Nagan, Narasimhan, Zoeller, Raphael A

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Technical standards and guidelines for spinal muscular atrophy testing by Prior, Thomas W., Nagan, Narasimhan, Sugarman, Elaine A., De Batish, Sat v., Braastad, Corey

“…Spinal muscular atrophy is a common autosomal recessive neuromuscular disorder caused by mutations in the survival motor neuron (SMN1) gene, affecting…”
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Aminoalkylaziridines as substrates and inhibitors of lysyl oxidase: specific inactivation of the enzyme by N-(5-aminopentyl)aziridine by Nagan, N, Callery, P S, Kagan, H M

“…The reaction of lysyl oxidase was assessed with members of a series of aminoalkylaziridines in which the primary amino group and the aziridinyl nitrogen were…”
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Plasmalogens as endogenous antioxidants: somatic cell mutants reveal the importance of the vinyl ether by Zoeller, R A, Lake, A C, Nagan, N, Gaposchkin, D P, Legner, M A, Lieberthal, W

“…Exposure of plasmalogen-deficient variants of the murine cell line RAW 264.7 to short-term (0-100 min) treatment with electron transport inhibitors antimycin A…”
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Function of the Cloned Putative Neutral Sphingomyelinase as Lyso-platelet Activating Factor-Phospholipase C by Sawai, H, Domae, N, Nagan, N, Hannun, Y A

“…Sphingolipids such as ceramide and sphingosine have been regarded as novel signal mediators in cells. However, the mechanisms of generation of these lipids…”
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Role of dihydroxyacetonephosphate acyltransferase in the biosynthesis of plasmalogens and nonether glycerolipids by Liu, Dailan, Nagan, Narasimhan, Just, Wilhelm W., Rodemer, Claus, Thai, Thanh-Phuong, Zoeller, Raphael A.

“…The variant CHO-K1 cell line, NRel-4, is unable to synthesize plasmalogens because of a severe reduction in dihydroxyacetonephosphate acyltransferase (DHAPAT)…”
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The frequency of short-chain acyl-CoA dehydrogenase gene variants in the US population and correlation with the C 4-acylcarnitine concentration in newborn blood spots by Nagan, Narasimhan, Kruckeberg, Kent E., Tauscher, Angela L., Snow Bailey, Karen, Rinaldo, Piero, Matern, Dietrich

“…Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a clinically heterogeneous disorder. The clinical phenotype varies from fatal metabolic decompensation…”
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A novel duplication/insertion mutation of NEFL in a patient with Charcot-Marie-Tooth disease by Leung, Conrad L., Nagan, Narasimhan, Graham, Thomas H., Liem, Ronald K.H.

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Validation of a single nucleotide polymorphism genotyping assay for the human serum paraoxonase gene using electronically active customized microarrays by Nagan, Narasimhan, O’Kane, Dennis J.

“…Objectives: Develop a microarray based genotyping assay to detect SNPs in human paraoxonase (PON I) and compare its accuracy with DNA sequencing and RFLP based…”
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Isolation of a Chinese hamster fibroblast variant defective in dihydroxyacetonephosphate acyltransferase activity and plasmalogen biosynthesis: use of a novel two-step selection protocol by Nagan, N, Hajra, A K, Larkins, L K, Lazarow, P, Purdue, P E, Rizzo, W B, Zoeller, R A

“…We have developed a two-step selection protocol to generate a population of Chinese hamster ovary (CHO) cell variants that are plasmalogen-deficient, but…”
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The crystal field and exchange interactions in NdNi sub 5 , UGa sub 2 and UPd sub 2 Al sub 3 by Radwanski, R J, Kim-Nagan, N H

“…Magnetic and electronic properties of the hexagonal NdNi sub 5 , UGa sub 2 and UPd sub 2 Al sub 3 have been reviewed within a crystalline electric field…”
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A Fibroblast Cell Line Defective in Alkyl-Dihydroxyacetone Phosphate Synthase: A Novel Defect in Plasmalogen Biosynthesis by Nagan, Narasimhan, Hajra, Amiya K., Das, Arun K., Moser, Hugo W., Moser, Ann, Lazarow, Paul, Purdue, P. Edward, Zoeller, Raphael A.

“…Using fluorescence-activated cytotoxicity selection, followed by colony autoradiographic screening of the surviving population, we have isolated a unique…”
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Expression of lysyl oxidase from cDNA constructs in mammalian cells: the propeptide region is not essential to the folding and secretion of the functional enzyme by Kagan, H M, Reddy, V B, Panchenko, M V, Nagan, N, Boak, A M, Gacheru, S N, Thomas, K M

“…Rat aortic lysyl oxidase cDNA was expressed under a metallothionein promoter in Chinese hamster ovary cells using a dihydrofolate reductase selection marker…”
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