Abstract：
:Glycosylation is the most common chemical process of protein modification and occurs in every living cell. Disturbances of this process may be either congenital or acquired. Congenital disorders of glycosylation (CDG) are a rapidly growing disease family, with about 50 disorders reported since its first clinical description in 1980. Most of the human diseases have been discovered recently. CDG result from defects in the synthesis of the N- and O-glycans moiety of glycoproteins, and in the attachment to the polypeptide chain of proteins. These defects have been found in the activation, presentation, and transport of sugar precursors, in the enzymes responsible for glycosylation, and in proteins that control the traffic of component. There are two main types of protein glycosylation: N-glycosylation and O-glycosylation. Most diseases are due to defects in the N-glycosylation pathway. For the sake of convenience, CDG were divided into 2 types, type I and II. CDG can affect nearly all organs and systems. The considerable variability of clinical features makes it difficult to recognize patients with CDG. Diagnosis can be made on the basis of abnormal glycosylation display. In this paper, an overview of CDG with a new nomenclature limited to the group of protein N-glycosylation disorders, clinical phenotype and diagnostic approach, have been presented. The location, reasons for defects, and the number of cases have been also described. This publication aims to draw attention to the possibility of occurrence of CDG in each multisystem disorder with an unknown origin.
journal_name
Acta Biochim Poljournal_title
Acta biochimica Polonicaauthors
Cylwik B,Naklicki M,Chrostek L,Gruszewska Esubject
Has Abstractpub_date
2013-01-01 00:00:00pages
151-61issue
2eissn
0001-527Xissn
1734-154Xpii
2012_417journal_volume
60pub_type
杂志文章,评审abstract：:The purpose of this study was to examine the effects of oxidative stress caused by hydroperoxide (H(2)O(2)) in the presence of iron ions (Fe(2+)) on mitochondria of the amoeba Acanthamoeba castellanii. We used isolated mitochondria of A. castellanii and exposed them to four levels of H(2)O(2) concentration: 0.5, 5, 15...
journal_title：Acta biochimica Polonica
pub_type： 杂志文章
doi：
更新日期：2007-01-01 00:00:00
abstract：:Pathogen-specific acquired immunity in bacteria is mediated by the CRISPR (clustered regularly interspaced short palindromic repeats)-Cas systems. Thermus thermophilus strain HB8 contains CRISPR systems of several major subtypes (type I, IIIA and IIIB), and has become a widely studied model for CRISPR biology. We have...
journal_title：Acta biochimica Polonica
pub_type： 杂志文章
doi：10.18388/abp.2016_1261
更新日期：2016-01-01 00:00:00
abstract：:Staphylococcus aureus is responsible for many types of infections related to biofilm presence. As the early diagnostics remains the best option for prevention of biofilm infections, the aim of the work presented was to search for differences in metabolite patterns of S. aureus ATCC6538 biofilm vs. free-swimming S. aur...
journal_title：Acta biochimica Polonica
pub_type： 杂志文章
doi：
更新日期：2013-01-01 00:00:00
abstract：:The approach for the unification of published proposals for the nomenclature and abbreviations of aminoalkylphosphonic acids and their derivatives is presented. Their modification was made on the basis of the IUPAC-IUB rules concerning the nomenclature and code system of proteinogenic amino acids. Our present proposal...
journal_title：Acta biochimica Polonica
pub_type： 杂志文章
doi：10.18388/abp.2014_904
更新日期：2015-01-01 00:00:00
abstract：:1. The lupin cotyledons contain two cytoplasm-specific lysine tRNAs, one chloroplast-specific, one mitochondria-specific species, and three species common to all the cell compartments investigated; the lysine tRNAs were separated by reversed-phase chromatography (RPC-5). 2. The two cytoplasmic lysine tRNAs are predomi...
journal_title：Acta biochimica Polonica
pub_type： 杂志文章
doi：
更新日期：1978-01-01 00:00:00
abstract：:A method has been developed for functional reconstitution of the isolated pyruvate carrier. Optimal conditions were reached after removal of deoxycholate with 27 mg Triton X-100 per gram of moist Amberlite XAD-2 beads and 7 micrograms protein/mg of phospholipid. Uptake of pyruvate into proteoliposomes and sensitivity ...
journal_title：Acta biochimica Polonica
pub_type： 杂志文章
doi：
更新日期：1990-01-01 00:00:00
abstract：:This review describes the recently developed GeneChip technology that provides efficient access to genetic information using miniaturised, high-density arrays of DNA or oligonucleotide probes. Such microarrays are powerful tools to study the molecular basis of interactions on a scale that would be impossible using con...
journal_title：Acta biochimica Polonica
pub_type： 杂志文章,评审
doi：
更新日期：2001-01-01 00:00:00
abstract：:The base analogue 6-N-hydroxylaminopurine (HAP) is a potent mutagen in a variety of prokaryotic and eukaryotic organisms. Mutations in the yeast ham1 gene render the cells hypersensitive to the mutagenic effect of HAP. We have found that this gene has homologues in a variety of organisms from bacteria to man. We have ...
journal_title：Acta biochimica Polonica
pub_type： 杂志文章
doi：
更新日期：1998-01-01 00:00:00
abstract：:We recently reported that kinobeon A, produced from safflower cells, suppressed the free radical-induced damage of cell and microsomal membranes. In the present study, we investigated whether kinobeon A quenches singlet oxygen, another important active oxygen species. Kinobeon A inhibited the singlet oxygen-induced ox...
journal_title：Acta biochimica Polonica
pub_type： 杂志文章
doi：
更新日期：2005-01-01 00:00:00
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journal_title：Acta biochimica Polonica
pub_type： 杂志文章
doi：10.18388/abp.2015_1050
更新日期：2015-01-01 00:00:00
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journal_title：Acta biochimica Polonica
pub_type： 杂志文章
doi：
更新日期：2014-01-01 00:00:00
abstract：:The role of Survivin in the pathogenesis of leukemia was explored in order to discover the effective avenues for gene therapy. Most primary leukemia cells isolated from patients as well as three leukemia cell lines (HL-60, K562, and U937) all expressed Survivin gene. To investigate the relationship between Survivin an...
journal_title：Acta biochimica Polonica
pub_type： 杂志文章
doi：
更新日期：2008-01-01 00:00:00
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journal_title：Acta biochimica Polonica
pub_type： 杂志文章
doi：
更新日期：1996-01-01 00:00:00
abstract：:The walls of human abdominal aortas and atherosclerosis-induced aneurysms contain similar amounts of collagen. The quantitative ratio between collagens of various types of this protein does not differ significantly either, whereas solubility of the collagen in aneurysmal wall and its susceptibility to the action of ED...
journal_title：Acta biochimica Polonica
pub_type： 杂志文章
doi：
更新日期：1995-01-01 00:00:00
abstract：:The influence of exogenous inorganic pyrophosphate on the transport of oleanolic acid monoglucoside and monoglucuronide to vacuoles isolated from Calendula officinalis leaf protoplasts was studied. The results indicate that the transport of both monoglycosides is carrier-mediated; however, the transport of the monoglu...
journal_title：Acta biochimica Polonica
pub_type： 杂志文章
doi：
更新日期：1998-01-01 00:00:00
abstract：:Unusual chemical properties of hypermodified nucleosides N6-(threoninocarbonyl)adenosine (t6 A) located at position 37 and 3-(3-amino-3-carboxypropyl)uridine (acp3U) located at position 20:1 have been utilized for the introduction of photoreactive azidonitrophenyl probes to the anticodon loop and to the dihydrouridine...
journal_title：Acta biochimica Polonica
pub_type： 杂志文章
doi：
更新日期：1989-01-01 00:00:00
abstract：:To downregulate expression of the beta1 integrin subunit in endothelial cells, plasmid encoding the ribozyme cassette containing hammerhead ribozyme flanked at the 5' terminus by tRNA(Val) and at the 3' terminus by constitutive transport element sequences was constructed. When used to transfect immortalized human endo...
journal_title：Acta biochimica Polonica
pub_type： 杂志文章
doi：
更新日期：2006-01-01 00:00:00
abstract：:Eight polymorphic restriction enzyme sites at phenylalanine hydroxylase locus from the parental chromosomes in Polish families with phenylketonuria were analyzed. Among 28 chromosomes studied, we identified haplotypes found within the Danish population. Haplotype 2 has been found in 25% of affected alleles. One of the...
journal_title：Acta biochimica Polonica
pub_type： 杂志文章
doi：
更新日期：1989-01-01 00:00:00
abstract：:Triterpene saponins (saponosides) are found in a variety of higher plants and display a wide range of pharmacological activities, including expectorant, anti-inflamatory, vasoprotective, gastroprotective and antimicrobial properties. Recently, a potential anticancer activity of saponins has been suggested by their cyt...
journal_title：Acta biochimica Polonica
pub_type： 杂志文章,评审
doi：10.18388/abp.2015_1089
更新日期：2015-01-01 00:00:00
abstract：:In vitro addition of 16,16'-dimethyl prostaglandin E2 to Golgi-rich membrane fraction in final concentration of 0.1 microgram/1 mg of protein increased generally the activity of galactosyltransferase in comparison with control. The percentage of phospholipids in the whole fraction was similar in both investigated grou...
journal_title：Acta biochimica Polonica
pub_type： 杂志文章
doi：
更新日期：1993-01-01 00:00:00
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journal_title：Acta biochimica Polonica
pub_type： 杂志文章
doi：
更新日期：2013-01-01 00:00:00
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journal_title：Acta biochimica Polonica
pub_type： 杂志文章
doi：
更新日期：1975-01-01 00:00:00
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journal_title：Acta biochimica Polonica
pub_type： 杂志文章
doi：
更新日期：2012-01-01 00:00:00
abstract：:Transcriptionally active and inactive chromatin fractions were isolated from Physarum polycephalum after depolymerization of chromatin with DNAase II or micrococcal nuclease, followed by fractionation in 5 mM-MgCl2. The active fraction of chromatin comprised up to 21% of nuclear DNA and was enriched 22-fold in the lab...
journal_title：Acta biochimica Polonica
pub_type： 杂志文章
doi：
更新日期：1980-01-01 00:00:00
abstract：:Recent reports indicate that minichromosomes and other small genetic entities may occur in the nuclei of uninfected higher plants. They become especially abundant under some special growth conditions and, sometimes, resemble extrachromosomal genes of ciliated protozoa. An example of such gene-sized DNA species was iso...
journal_title：Acta biochimica Polonica
pub_type： 杂志文章,评审
doi：
更新日期：1997-01-01 00:00:00
abstract：:Sulfate uptake, the first step of sulfate assimilation in all organisms, is a highly endoergic, ATP requiring process. It is under tight control at the transcriptional level and is additionally modulated by posttranslational modifications, which are not yet fully characterized. Sulfate anion is taken up into the cell ...
journal_title：Acta biochimica Polonica
pub_type： 杂志文章,评审
doi：
更新日期：2009-01-01 00:00:00
abstract：:So far, azide has been consistently reported to act as an inhibitor of metal enzymes, especially copper proteins. The present work shows that azide can also act as an activator of polyphenol oxidase II (PPO II) from tobacco leaves. From the square-wave voltammetry of native PPO II, peroxide-PPO II complex and azide-PP...
journal_title：Acta biochimica Polonica
pub_type： 杂志文章
doi：0249041029
更新日期：2002-01-01 00:00:00
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journal_title：Acta biochimica Polonica
pub_type： 杂志文章
doi：
更新日期：2012-01-01 00:00:00
abstract：:The reaction of nitrite (NO2-) with horseradish peroxidase and lactoperoxidase was studied. Sequential mixing stopped-flow measurements gave the following values for the rate constants of the reaction of nitrite with compounds II (oxoferryl heme intermediates) of horseradish peroxidase and lactoperoxidase at pH 7.0, 1...
journal_title：Acta biochimica Polonica
pub_type： 杂志文章
doi：
更新日期：1999-01-01 00:00:00
abstract：:Temporin A (TA) and a cecropin A-temporin A hybrid peptide (CATA) were synthesized and assayed for their hemolytic, anticoagulant, and antifungal properties. CATA retains significant antifungal activity, is less hemolytic than TA, and inhibits blood coagulation. These results recommend further studies of the biologica...
journal_title：Acta biochimica Polonica
pub_type： 杂志文章
doi：
更新日期：2001-01-01 00:00:00
