Abstract：
:Hereditary sensory and autonomic neuropathy type 2 is a rare disorder caused by recessive mutations in the WNK1/HSN2 gene located on chromosome 12p13.33. Phenotype of the patients is characterized by severe sensory loss affecting all sensory modalities. We report a novel homozygous Lys179fsX182 (HSN2); Lys965fsX968 (WNK1/HSN2) mutation causing an early childhood onset hereditary sensory and autonomic neuropathy type 2, with acromutilations in upper and lower limbs, and autonomic dysfunction. To the best of our knowledge this is the first genetically proven case of hereditary sensory and autonomic neuropathy type 2 originating from East Europe.
journal_name
Acta Biochim Poljournal_title
Acta biochimica Polonicaauthors
Potulska-Chromik A,Kabzińska D,Lipowska M,Kostera-Pruszczyk A,Kochański Asubject
Has Abstractpub_date
2012-01-01 00:00:00pages
413-5issue
3eissn
0001-527Xissn
1734-154Xpii
2012_297journal_volume
59pub_type
杂志文章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：:Currently, there is a search for substances that would be very well tolerated by an organism and which could contribute to the activation of the growth of Bacteroidetes and Actinobacteria strains, with simultaneous inhibition of the growth of Firmicutes. High expectations in this regard are raised with the use of fibe...
journal_title：Acta biochimica Polonica
pub_type： 杂志文章
doi：10.18388/abp.2015_1068
更新日期：2016-01-01 00:00:00
abstract：:In many plants belonging to angiosperms and gymnosperms the accumulation in leaves of long chain polyprenols and polyprenyl esters during growth in natural habitats depends on the light intensity. The amount of polyprenols in leaves is also positively correlated with the thickness of the leaf blade (SLA, specific leaf...
journal_title：Acta biochimica Polonica
pub_type： 杂志文章
doi：055201233
更新日期：2005-01-01 00:00:00
abstract：:The photochemical characteristics of mesophyll and bundle sheath chloroplasts isolated from the leaves of C4 species were investigated in Zea mays (NADP-ME type), Panicum miliaceum (NAD-ME type) and Panicum maximum (PEP-CK type) plants. The aim of this work was to gain information about selected photochemical properti...
journal_title：Acta biochimica Polonica
pub_type： 杂志文章
doi：
更新日期：2006-01-01 00:00:00
abstract：BACKGROUND:Tunneled catheters are becoming increasingly used as a permanent dialysis access. Easy way of insertion and good long-term patency make them competitive to fistulas in some groups of patients. METHODS:Late complications and survival of 180 tunneled catheters inserted from June 2010 to December 2013 in 171 u...
journal_title：Acta biochimica Polonica
pub_type： 杂志文章
doi：10.18388/abp.2015_1111
更新日期：2016-01-01 00:00:00
abstract：BACKGROUND:Juvenile idiopathic arthritis (JIA) is a chronic, heterogenous inflammatory disease of unclear pathogenesis. JIA is hypothesized to be linked to a defective immune regulation. Anti-inflammatory cytokines belong to the best known regulatory factors. T-regulatory cells are a crucial cellular component of immun...
journal_title：Acta biochimica Polonica
pub_type： 杂志文章
doi：10.18388/abp.2017_2308
更新日期：2018-01-01 00:00:00
abstract：:The results of molecular dynamics simulation of fully hydrated dimyristoylphosphatidylcholine (DMPC) bilayer membrane in the liquid-crystalline phase are presented. They show that the probability of a gauche conformation varies periodically along the chain with only a slight increase towards the end of the chain. Howe...
journal_title：Acta biochimica Polonica
pub_type： 杂志文章
doi：
更新日期：1997-01-01 00:00:00
abstract：:An approximately threefold increase in glycogenolytic activity of the neutral alpha-1,4-glucosidase and a twofold increase in the same activity of the acid isoform have been found in extracts of anaplastic astrocytoma and glioblastoma multiforme tumors of brain tissue. "Maltase activity" of the respective enzymes incr...
journal_title：Acta biochimica Polonica
pub_type： 杂志文章
doi：
更新日期：2001-01-01 00:00:00
abstract：:Betapapillomaviruses have been linked to the development of nonmelanoma skin cancers. A great diversity of these viruses in skin specimens requires the use of sensitive and reliable detection methods. There are currently no standardized assays for diagnostic purposes. A combination of several molecular methods has gre...
journal_title：Acta biochimica Polonica
pub_type： 杂志文章
doi：10.18388/abp.2020_5185
更新日期：2020-06-08 00:00:00
abstract：:1. In frog liver, tyrosine aminotransferase is located mainly in cytoplasm. The enzyme is an anionic protein of mol. wt. 115 000 daltons, specific toward 2-oxoglutarate. The enzyme separates on ion-exchange chromatography into two active forms. 2. Administration of triiodotyronine in vivo induces the activity of the e...
journal_title：Acta biochimica Polonica
pub_type： 杂志文章
doi：
更新日期：1975-01-01 00:00:00
abstract：:The dairy propionibacteria, which are traditionally used for the production of Swiss cheeses, are able to synthesize valuable biomolecules, e.g. B group vitamins, propionic acid, and trehalose with unique chemical and physical properties. Both, dairy propionibacteria cells and trehalose, have found many applications a...
journal_title：Acta biochimica Polonica
pub_type： 杂志文章
doi：10.18388/abp.2017_1570
更新日期：2017-01-01 00:00:00
abstract：:The pathogenicity of RHDV (rabbit haemorrhagic disease virus) is mainly associated with its affinity to blood vessels, with causing disseminated intravascular coagulations (DIC), and with the stimulation of the host immune system. Moreover, there are implications suggesting that apoptosis may be a pivotal process in u...
journal_title：Acta biochimica Polonica
pub_type： 杂志文章
doi：
更新日期：2013-01-01 00:00:00
abstract：:The activity of the pyruvate dehydrogenase complex (PDC) purified from pig kidney medulla was affected by K+, Na+, Cl-, HCO3-, HPO4(2-) and changes in ionic strength. Increased ionic strength influenced the activity of PDC from medulla by decreasing the Vmax and S0.5 for pyruvate and increasing the Hill coefficient. T...
journal_title：Acta biochimica Polonica
pub_type： 杂志文章
doi：
更新日期：1993-01-01 00:00:00
abstract：:Although both uveal (UM) and cutaneous (CM) melanoma cells derive from the transformed melanocytes, their biology varies significantly in several aspects. Malignant transformation is frequently associated with alternations in cell glycosylation, in particular those concerning branched complex-type N-glycans. These cha...
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
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
abstract：:Microbiological purity control of food products is of great importance in the food industry. Contaminated food is often characterized by a deteriorated taste, smell, and appearance, and when consumed, it can pose a threat to human health and life. Also, contamination incurs huge financial losses to the food industry. ...
journal_title：Acta biochimica Polonica
pub_type： 杂志文章
doi：10.18388/abp.2020_5380
更新日期：2020-09-14 00:00:00
abstract：:Maf1 was the first protein discovered to regulate polymerase III RNA in yeast and because it is evolutionarily conserved, a Maf1 ortholog also serves to restrain transcription in mouse and human cells. Understanding the mechanism of the regulation has been made possible by recent studies showing that Maf1 is a nuclear...
journal_title：Acta biochimica Polonica
pub_type： 杂志文章,评审
doi：
更新日期：2008-01-01 00:00:00
abstract：:Recently we observed that the transcription factors Sp1 and Sp3 bind to the CTCCTCCTC sequence located between positions -194 and -172 of the alphaV promoter region and are directly involved in the regulation of transcriptional activity of the alphaV gene in human umbilical vascular endothelial cells (HUVECs) (Czyz & ...
journal_title：Acta biochimica Polonica
pub_type： 杂志文章
doi：
更新日期：2002-01-01 00:00:00
abstract：INTRODUCTION:The statin-induced effects on high density lipoprotein (HDL) are relatively small compared with those of low density lipoprotein (LDL) and, as a result, most clinical trials of statins are underpowered with respect to HDL parameters. This study experimentally investigated, the effects of statin on serum li...
journal_title：Acta biochimica Polonica
pub_type： 杂志文章
doi：
更新日期：2013-01-01 00:00:00
abstract：:The capabilities of porcine adrenal cortex mitochondria to oxidize glycerol-3-phosphate (GP) were studied. In comparison with bovine adrenal cortex mitochondria, porcine mitochondria oxidized GP about three times more actively (18.9 vs 6.1 nmol O(2)/min per mg protein in the presence of ADP) and the activity of mitoch...
journal_title：Acta biochimica Polonica
pub_type： 杂志文章
doi：0451041075
更新日期：2004-01-01 00:00:00
abstract：:Since the discovery of the first E. coli mutator gene, mutT, most of the mutations inducing elevated spontaneous mutation rates could be clearly attributed to defects in DNA repair. MutT turned out to be a pyrophosphohydrolase hydrolyzing 8-oxodGTP, thus preventing its incorporation into DNA and suppresing the occurre...
journal_title：Acta biochimica Polonica
pub_type： 杂志文章,评审
doi：
更新日期：2007-01-01 00:00:00
abstract：:The urinary tract is vulnerable to frequent challenges from environmental microflora. Uropathogenic Escherichia coli (UPEC) makes a major contribution to urinary tract infection (UTI). Previous studies have characterized positive roles of non-histone nuclear protein HMGN2 in lung epithelial innate immune response. In ...
journal_title：Acta biochimica Polonica
pub_type： 杂志文章
doi：10.18388/abp.2017_1622
更新日期：2018-01-01 00:00:00
abstract：:The fuzzy oil drop model suggests that the tertiary conformation of a protein - particularly a globular one - can be likened to a spherical micelle. During the folding process, hydrophilic residues are exposed on the surface, while hydrophobic residues are retained inside the protein. The resulting hydrophobicity dist...
journal_title：Acta biochimica Polonica
pub_type： 杂志文章
doi：10.18388/abp.2019_2865
更新日期：2019-11-20 00:00:00
abstract：:Research and practice are focusing on development, validation and harmonization of technologies and methodologies to ensure complete traceability process throughout the food chain. The main goals are: scale-up, implementation and validation of methods in whole food chains, assurance of authenticity, validity of labell...
journal_title：Acta biochimica Polonica
pub_type： 杂志文章,评审
doi：
更新日期：2005-01-01 00:00:00
abstract：:The increase in the lipid peroxide level in the serum and liver of female mice after bilateral ovariectomy evidenced antioxidant activities of female hormones. This increase was abolished upon administration of female hormones. Similar increase in the level of lipid peroxide was observed in the serum of women who had ...
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：:The PCR conditions have been optimized to make the process faster and more economical. When short DNA fragments are to be amplified, the time of denaturation, annealing and extension steps can be as short as 1 s each, and the yield of PCR product is still high, sufficient for many types of analysis. The PCR can be don...
journal_title：Acta biochimica Polonica
pub_type： 杂志文章
doi：
更新日期：1995-01-01 00:00:00
abstract：BACKGROUND:MicroRNAs play a crucial role in diabetic peripheral neuropathic pain (DPNP). miR-590-3p is a novel miRNA and involved in multiple diseases. However, the pathological mechanism of miR-590-3p in DPNP needs to be elucidated. MATERIALS AND METHODS:The db/db mice and db/m mice were selected to mimic diabetes an...
journal_title：Acta biochimica Polonica
pub_type： 杂志文章
doi：10.18388/abp.2020_5451
更新日期：2020-12-17 00:00:00
abstract：:Selectivity of amidination using ornithine as model amino acid was investigated in detail. The results obtained were taken advantage of for studying the reactions with other polyfunctional amino acids: beta-tyrosine, isoserine, 2,3-diaminopropionic acid, 2,6-diamino-7-hydroxyazelaic acid and with the pentapeptide amid...
journal_title：Acta biochimica Polonica
pub_type： 杂志文章
doi：
更新日期：1982-01-01 00:00:00
abstract：:A conservative and apparently harmless A176V mutation in intracellular S. cerevisiae L-asparaginase (ScerAI) completely abolishes the enzyme activity. Sequence and structural comparisons with type II bacterial L-asparaginases show that the mutated residue is in a very conservative region and plays a vital role in the ...
journal_title：Acta biochimica Polonica
pub_type： 杂志文章,评审
doi：
更新日期：1997-01-01 00:00:00
