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S J Humphray et al.
Nature, 429(6990), 369-374 (2004-05-28)
Chromosome 9 is highly structurally polymorphic. It contains the largest autosomal block of heterochromatin, which is heteromorphic in 6-8% of humans, whereas pericentric inversions occur in more than 1% of the population. The finished euchromatic sequence of chromosome 9 comprises
T Mukai et al.
European journal of biochemistry, 195(3), 781-787 (1991-02-14)
The aldolase A gene was isolated from a human DNA library, mapped and sequenced. This gene comprises 12 exons and spans 6.5 kb. From the genomic DNA sequence and from the previous sequence analysis of the cDNA, it was revealed
Natacha Scarafone et al.
PloS one, 7(3), e31253-e31253 (2012-03-23)
Nine neurodegenerative disorders, called polyglutamine (polyQ) diseases, are characterized by the formation of intranuclear amyloid-like aggregates by nine proteins containing a polyQ tract above a threshold length. These insoluble aggregates and/or some of their soluble precursors are thought to play
Helena Hernández et al.
Nature protocols, 2(3), 715-726 (2007-04-05)
The growing number of applications to determine the stoichiometry, interactions and even subunit architecture of protein complexes from mass spectra suggests that some general guidelines can now be proposed. In this protocol, we describe the necessary steps required to maintain
Rodolfo García-Contreras et al.
The FEBS journal, 279(22), 4145-4159 (2012-09-18)
Does the understanding of the dynamics of biochemical networks in vivo, in terms of the properties of their components determined in vitro, require the latter to be determined all under the same conditions? An in vivo-like assay medium for enzyme
Karina Rodrigues Lorenzatto et al.
Gene, 506(1), 76-84 (2012-07-04)
Glycolytic enzymes, such as fructose-bisphosphate aldolase (FBA) and enolase, have been described as complex multifunctional proteins that may perform non-glycolytic moonlighting functions, but little is known about such functions, especially in parasites. We have carried out in silico genomic searches
Rachel A Keuls et al.
International journal of molecular sciences, 21(20) (2020-10-18)
Neural tube closure is a critical early step in central nervous system development that requires precise control of metabolism to ensure proper cellular proliferation and differentiation. Dysregulation of glucose metabolism during pregnancy has been associated with neural tube closure defects
Valentina La Verde et al.
Bio-protocol, 7(8), e2230-e2230 (2017-04-20)
Size exclusion chromatography (SEC) or gel filtration is a hydrodynamic technique that separates molecules in solution as a function of their size and shape. In the case of proteins, the hydrodynamic value that can be experimentally derived is the Stokes
Nicolas Galazis et al.
PloS one, 8(1), e53801-e53801 (2013-02-06)
Preterm Birth (PTB) is a major cause of neonatal mortality and morbidity. Women with Polycystic Ovary Syndrome (PCOS) are at high risk of PTB. There is a need for research studies to investigate the mechanisms linking PCOS and PTB, to
Peter M Fernandes et al.
The Biochemical journal, 477(22), 4425-4441 (2020-11-04)
6-Phosphofructokinase-1-kinase (PFK) tetramers catalyse the phosphorylation of fructose 6-phosphate (F6P) to fructose 1,6-bisphosphate (F16BP). Vertebrates have three PFK isoforms (PFK-M, PFK-L, and PFK-P). This study is the first to compare the kinetics, structures, and transcript levels of recombinant human PFK
Xiang Chen et al.
Molecular carcinogenesis, 53(2), 138-144 (2012-09-06)
Osteosarcoma (OSA) is the most common primary malignancy of bone. Molecular mechanism underlying OSA remains to be fully elucidated. It is critical to identify reliable diagnostic and prognostic markers for OSA at the molecular levels. This study is designed to
C C Brooks et al.
FASEB journal : official publication of the Federation of American Societies for Experimental Biology, 8(1), 107-113 (1994-01-01)
Hereditary fructose intolerance (HFI) is a potentially fatal autosomal recessive disease of carbohydrate metabolism. HFI patients are deficient in aldolase B, the isozyme expressed in fructose-metabolizing tissues. The eight protein coding exons, including splicing signals, of the aldolase B gene
P Izzo et al.
European journal of biochemistry, 164(1), 9-13 (1987-04-01)
A full-length cDNA aldolase A clone was isolated from a human fibroblast cDNA library and completely sequenced. Excluding the poly(A) tail, the clone covers 1095 base pairs (bp) of the coding region, plus 199 bp downstream for the termination codon
Brief report: inherited metabolic myopathy and hemolysis due to a mutation in aldolase A.
J Kreuder et al.
The New England journal of medicine, 334(17), 1100-1104 (1996-04-25)
Kathleen M Clark et al.
Protein expression and purification, 71(2), 207-223 (2010-01-05)
To enhance the quantity and quality of eukaryotic transmembrane proteins (TMPs) available for structure determination by X-ray crystallography, we have optimized protocols for purification of TMPs expressed in the yeast Saccharomyces cerevisiae. We focused on a set of the highest-expressing
S J Gamblin et al.
FEBS letters, 262(2), 282-286 (1990-03-26)
The three-dimensional structure of fructose-1,6-bisphosphate aldolase from human muscle has been determined at 3.0 A resolution by X-ray crystallography. The active protein is a tetramer of 4 identical subunits each of which is composed of an eight-stranded alpha/beta-barrel structure. The
J Lau et al.
Molecular and cellular probes, 13(1), 35-40 (1999-02-20)
An assay is described which is useful for genetic screening of the two most prevalent mutations that cause hereditary fructose intolerance (HFI). Both mutations lie within exon 5 of the aldolase B gene. Amplification of exon 5 from genomic DNA
P Maire et al.
Journal of molecular biology, 197(3), 425-438 (1987-10-05)
We undertook cloning and sequencing of the 5' portion of the human aldolase A gene to elucidate the mechanisms that govern synthesis of its different mRNAs. The sequenced gene is the only active gene in human-rodent fibroblastic somatic hybrids, while
P S Freemont et al.
The Biochemical journal, 249(3), 779-788 (1988-02-01)
The complete amino acid sequence of human skeletal-muscle fructose-bisphosphate aldolase, comprising 363 residues, was determined. The sequence was deduced by automated sequencing of CNBr-cleavage, o-iodosobenzoic acid-cleavage, trypsin-digest and staphylococcal-proteinase-digest fragments. Comparison of the sequence with other class I aldolase sequences
Clotilde LowKam et al.
The Journal of biological chemistry, 285(27), 21143-21152 (2010-04-30)
Tagatose-1,6-bisphosphate aldolase from Streptococcus pyogenes is a class I aldolase that exhibits a remarkable lack of chiral discrimination with respect to the configuration of hydroxyl groups at both C3 and C4 positions. The enzyme catalyzes the reversible cleavage of four
Michael C Zody et al.
Nature, 440(7087), 1045-1049 (2006-04-21)
Chromosome 17 is unusual among the human chromosomes in many respects. It is the largest human autosome with orthology to only a single mouse chromosome, mapping entirely to the distal half of mouse chromosome 11. Chromosome 17 is rich in
Structure- and ligand-based structure-activity relationships for a series of inhibitors of aldolase.
Leonardo G Ferreira et al.
Current computer-aided drug design, 8(4), 309-316 (2012-06-28)
Aldolase has emerged as a promising molecular target for the treatment of human African trypanosomiasis. Over the last years, due to the increasing number of patients infected with Trypanosoma brucei, there is an urgent need for new drugs to treat
Gabriella Esposito et al.
Human mutation, 24(6), 534-534 (2004-11-09)
Hereditary fructose intolerance (HFI) is a recessively inherited disorder of carbohydrate metabolism caused by impaired functioning of human liver aldolase (B isoform; ALDOB). To-date, 29 enzyme-impairing mutations have been identified in the aldolase B gene. Here we report six novel
Sinisa Bjelic et al.
Journal of molecular biology, 426(1), 256-271 (2013-10-29)
Designed retroaldolases have utilized a nucleophilic lysine to promote carbon-carbon bond cleavage of β-hydroxy-ketones via a covalent Schiff base intermediate. Previous computational designs have incorporated a water molecule to facilitate formation and breakdown of the carbinolamine intermediate to give the
A R Dalby et al.
Acta crystallographica. Section D, Biological crystallography, 57(Pt 11), 1526-1533 (2001-10-27)
The X-ray crystallographic structure of the human liver isozyme of fructose-1,6-bisphosphate aldolase has been determined by molecular replacement using a tetramer of the human muscle isozyme as a search model. The liver aldolase (B isozyme) crystallized in space group C2
Chih-Feng Tien et al.
Biochemical and biophysical research communications, 443(2), 464-469 (2013-12-11)
Viral replication depends on host proteins to supply energy and replication accessories for the sufficient production of viral progeny. In this study, we identified fructose-bisphosphate aldolase A as a binding partner of Japanese encephalitis virus (JEV) untranslated regions (UTRs) on
Youn-Kyoung Goo et al.
Experimental parasitology, 135(1), 42-49 (2013-06-26)
Host cell invasion by apicomplexan parasites driven by gliding motility and empowered by actin-based movement is essential for parasite survival and pathogenicity. The parasites share a conserved invasion process: actin-based motility led by the coordination of adhesin-cytoskeleton via aldolase. A
Pulmonary impairment, not muscle injury, is associated with elevated ESR in the idiopathic inflammatory myopathies.
Jin Kyun Park et al.
Rheumatology (Oxford, England), 52(7), 1336-1338 (2013-04-27)
René Santer et al.
Human mutation, 25(6), 594-594 (2005-05-10)
We investigated the molecular basis of hereditary fructose intolerance (HFI) in 80 patients from 72 families by means of a PCR-based mutation screening strategy, consisting of heteroduplex analysis, restriction enzyme digest, DNA single strand electrophoresis, and direct sequencing. For a
W H Rottmann et al.
Biochimie, 69(2), 137-145 (1987-02-01)
The complete protein sequence of the human aldolase C isozyme has been determined from recombinant genomic clones. A genomic fragment of 6673 base pairs was isolated and the DNA sequence determined. Aldolase protein sequences, being highly conserved, allowed the derivation
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