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排序方式: 共有123条查询结果,搜索用时 31 毫秒
91.
Christine J. DiDonato Kenneth Morgan John D. Carpten Paul Fuerst Susan E. Ingraham Gary Prescott John D. McPherson Brunhilde Wirth Klaus Zerres Orest Hurko John J. Wasmuth Jerry R. Mendell Arthur H. M. Burghes Louise R. Simard 《American journal of human genetics》1994,55(6):1218-1229
The gene for autosomal recessive proximal spinal muscular atrophy (SMA) has been mapped to an 850-kb interval on 5q11.2-q13.3, between the centromeric D5S823 and telomeric D5S557 markers. We report a new complex marker, Ag1-CA, that lies in this interval, whose primers produce one, two, or rarely three amplification-fragment-length variants (AFLVs) per allele. Class I chromosomes are those which amplify a single AFLV allele, and class II chromosomes are those which amplify an allele with two or three AFLVs. Ag1-CA shows highly significant allelic association with type I SMA in both the French Canadian (Hôpital Sainte-Justine [HSJ]) and American (Ohio State University [OSU]) populations (P<.0001). Significant association between the Ag1-CA genotype and disease severity was also observed. Type I patients were predominantly homozygous for class I chromosomes (P=.0003 OSU; P=.0012 HSJ), whereas the majority of type II patients were heterozygous for class I and II chromosomes (P=.0014 OSU; P=.001 HSJ). There was no significant difference in Ag1-CA genotype frequencies between type III patients (P=.5 OSU; P=.25 HSJ) and the paired normal chromosomes from both carrier parents. Our results indicate that Ag1-CA is the most closely linked marker to SMA and defines the critical candidate-gene region. Finally, we have proposed a model that should be taken into consideration when screening candidate SMA genes. 相似文献
92.
Zubieta C Krishna SS McMullan D Miller MD Abdubek P Agarwalla S Ambing E Astakhova T Axelrod HL Carlton D Chiu HJ Clayton T Deller M DiDonato M Duan L Elsliger MA Grzechnik SK Hale J Hampton E Han GW Haugen J Jaroszewski L Jin KK Klock HE Knuth MW Koesema E Kumar A Marciano D Morse AT Nigoghossian E Oommachen S Reyes R Rife CL van den Bedem H Weekes D White A Xu Q Hodgson KO Wooley J Deacon AM Godzik A Lesley SA Wilson IA 《Proteins》2007,68(4):999-1005
93.
Wang Z Nicholls SJ Rodriguez ER Kummu O Hörkkö S Barnard J Reynolds WF Topol EJ DiDonato JA Hazen SL 《Nature medicine》2007,13(10):1176-1184
Post-translational modification and functional impairment of proteins through carbamylation is thought to promote vascular dysfunction during end-stage renal disease. Cyanate, a reactive species in equilibrium with urea, carbamylates protein lysine residues to form epsilon-carbamyllysine (homocitrulline), altering protein structure and function. We now report the discovery of an alternative and quantitatively dominant mechanism for cyanate formation and protein carbamylation at sites of inflammation and atherosclerotic plaque: myeloperoxidase-catalyzed oxidation of thiocyanate, an anion abundant in blood whose levels are elevated in smokers. We also show that myeloperoxidase-catalyzed lipoprotein carbamylation facilitates multiple pro-atherosclerotic activities, including conversion of low-density lipoprotein into a ligand for macrophage scavenger receptor A1 recognition, cholesterol accumulation and foam-cell formation. In two separate clinical studies (combined n = 1,000 subjects), plasma levels of protein-bound homocitrulline independently predicted increased risk of coronary artery disease, future myocardial infarction, stroke and death. We propose that protein carbamylation is a mechanism linking inflammation, smoking, uremia and coronary artery disease pathogenesis. 相似文献
94.
Shawna Battle Valentin Gogonea Belinda Willard Zeneng Wang Xiaoming Fu Ying Huang Linda M. Graham Scott J. Cameron Joseph A. DiDonato John W. Crabb Stanley L. Hazen 《The Journal of biological chemistry》2022,298(4)
Protein lysine carbamylation is an irreversible post-translational modification resulting in generation of homocitrulline (N-ε-carbamyllysine), which no longer possesses a charged ε-amino moiety. Two distinct pathways can promote protein carbamylation. One results from urea decomposition, forming an equilibrium mixture of cyanate (CNO−) and the reactive electrophile isocyanate. The second pathway involves myeloperoxidase (MPO)-catalyzed oxidation of thiocyanate (SCN−), yielding CNO− and isocyanate. Apolipoprotein A-I (apoA-I), the major protein constituent of high-density lipoprotein (HDL), is a known target for MPO-catalyzed modification in vivo, converting the cardioprotective lipoprotein into a proatherogenic and proapoptotic one. We hypothesized that monitoring site-specific carbamylation patterns of apoA-I recovered from human atherosclerotic aorta could provide insights into the chemical environment within the artery wall. To test this, we first mapped carbamyllysine obtained from in vitro carbamylation of apoA-I by both the urea-driven (nonenzymatic) and inflammatory-driven (enzymatic) pathways in lipid-poor and lipidated apoA-I (reconstituted HDL). Our results suggest that lysine residues within proximity of the known MPO-binding sites on HDL are preferentially targeted by the enzymatic (MPO) carbamylation pathway, whereas the nonenzymatic pathway leads to nearly uniform distribution of carbamylated lysine residues along the apoA-I polypeptide chain. Quantitative proteomic analyses of apoA-I from human aortic atheroma identified 16 of the 21 lysine residues as carbamylated and suggested that the majority of apoA-I carbamylation in vivo occurs on “lipid-poor” apoA-I forms via the nonenzymatic CNO− pathway. Monitoring patterns of apoA-I carbamylation recovered from arterial tissues can provide insights into both apoA-I structure and the chemical environment within human atheroma. 相似文献
95.
Pauly M; Andersen LN; Kauppinen S; Kofod LV; York WS; Albersheim P; Darvill A 《Glycobiology》1999,9(1):93-100
A full-length c-DNA encoding a xyloglucan-specific endo -beta-1, 4-
glucanase (XEG) has been isolated from the filamentous fungus Aspergillus
aculeatus by expression cloning in yeast. The colonies expressing
functional XEG were identified on agar plates containing azurine-dyed
cross-linked xyloglucan. The cDNA encoding XEG was isolated, sequenced,
cloned into an Aspergillus expression vector, and transformed into
Aspergillus oryzae for heterologous expression. The recombinant enzyme was
purified to apparent homogeneity by anion- exchange and gel permeation
chromatography. The recombinant XEG has a molecular mass of 23,600, an
isoelectric point of 3.4, and is optimally stable at a pH of 3.4 and
temperature below 30 degreesC. The enzyme hydrolyzes structurally diverse
xyloglucans from various sources, but hydrolyzes no other cell wall
component and can therefore be considered a xyloglucan-specific endo
-beta-1, 4-glucanohydrolase. XEG hydrolyzes its substrates with retention
of the anomeric configuration. The Kmof the recombinant enzyme is 3.6
mg/ml, and its specific activity is 260 micromol/min per mg protein. The
enzyme was tested for its ability to solubilize xyloglucan oligosaccharides
from plant cell walls. It was shown that treatment of plant cell walls with
XEG yields only xyloglucan oligosaccharides, indicating that this enzyme
can be a powerful tool in the structural elucidation of xyloglucans.
相似文献
96.
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99.
Molecular and phenotypic reassessment of an infrequently used mouse model for spinal muscular atrophy 总被引:1,自引:0,他引:1
Rocky G. Gogliotti Suzan M. Hammond Cathleen Lutz Christine J. DiDonato 《Biochemical and biophysical research communications》2010,391(1):517-126
Proximal spinal muscular atrophy (SMA) results from loss of the survival motor neuron 1 (SMN1) gene, with retention of its nearly identical homolog, SMN2. There is a direct correlation between disease severity and SMN2 copy number. Mice do not have a Smn2 gene, and thus cannot naturally replicate the disorder. However, two murine models of SMA have been generated using SMN2-BAC transgenic mice bred onto a mutant Smn background. In these instances mice die shortly after birth, have variable phenotypes within the same litter, or completely correct the SMA phenotype. Both models have been imported to The Jackson Laboratory for distribution to the research community. To ensure that similar results are obtained after importation to The Jackson Laboratory to what was originally reported in the literature, we have begun a molecular and phenotypic evaluation of these mouse models. Here we report our findings for the SMA mouse model that has been deposited by the Li group from Taiwan. These mice, JAX stock number TJL-005058, are homozygous for the SMN2 transgene, Tg(SMN2)2Hung, and a targeted Smn allele that lacks exon 7, Smn1tm1Hung. Our findings are consistent with those reported originally for this line and clarify some of the original data. In addition, we have cloned and mapped the integration site for Tg(SMN2)2Hung to Chromosome 4, and provide a simple genotyping assay that is specific to the junction fragment. Finally, based upon the survival data from our genetic crosses, we suggest that this underused SMA model may be a useful compliment or alternative to the more commonly used “delta7” SMA mouse. We provide breeding schemes in which two genotypes of mice can be generated so that 50% of the litter will be SMA-like pups while 50% will be controls. 相似文献
100.