Abstract：
:Dyskeratosis congenita is an inherited syndrome characterised by mucocutaneous features, bone marrow failure, an increased risk of malignancy and other somatic abnormalities. There is a considerable range of clinical severity and in its occult form the disease may present as idiopathic aplastic anaemia. Genes responsible for X-linked, autosomal dominant and autosomal recessive forms of the disease have been identified and been found to encode products involved in telomere maintenance. Premature shortening of telomeres could account for the pathology, affecting the tissues that turn over most rapidly. However, the protein that is mutated in the X-linked disease, dyskerin, also plays a fundamental role in ribosome biogenesis, directing the pseudouridylation of ribosomal RNA using H/ACA small nucleolar RNAs as guides. Heterozygous mutations in the RNA component of telomerase (TERC) cause the autosomal dominant form of the disease through haploinsufficiency. Disease anticipation described in these families is associated with progressive telomere shortening through the generations. Heterozygous mutations in the reverse transcriptase component of telomerase (TERT) have a more variable role, often displaying incomplete penetrance and diverse clinical presentation. The autosomal recessive form of the disease is genetically heterogeneous, although one sub-type has been described in which NOP10 is mutated. This small protein is also associated with the maturation of ribosomal RNA and the telomerase complex.
journal_name
Biochimiejournal_title
Biochimieauthors
Vulliamy TJ,Dokal Idoi
10.1016/j.biochi.2007.07.017subject
Has Abstractpub_date
2008-01-01 00:00:00pages
122-30issue
1eissn
0300-9084issn
1638-6183pii
S0300-9084(07)00191-5journal_volume
90pub_type
杂志文章,评审相关文献
BIOCHIMIE文献大全abstract：:Phospholipid analysis of the membranes associated with fast sedimenting folded chromosomes prepared by lysis of E. coli CR 34 shows that both inner and outer membranes are parts of the complex, in proportions not very different from that found in the whole bacteria. During the preparation of the folded chromosomes, th...
journal_title：Biochimie
pub_type： 杂志文章
doi：
更新日期：1977-01-01 00:00:00
abstract：:NikR proteins are bacterial metallo-regulatory transcription factors that control the expression of the nickel uptake system and/or nickel containing enzymes such as urease, and are involved in the acid stress response. Here, a comparative study is reported on NikR from Helicobacter pylori (HpNikR) and Escherichia col...
journal_title：Biochimie
pub_type： 杂志文章
doi：10.1016/j.biochi.2006.07.016
更新日期：2006-11-01 00:00:00
abstract：:Because of the ability of photosensitizers to induce specific photochemical reactions in vivo, leading to cell injury and death, many such molecules have been considered as therapeutic agents. Among them two classes of sensitizers, i.e. furocoumarins (psoralens) and porphyrins, are currently used for the photochemothe...
journal_title：Biochimie
pub_type： 杂志文章,评审
doi：10.1016/s0300-9084(86)80103-1
更新日期：1986-06-01 00:00:00
abstract：:Human Rad51 (HsRad51), a key element of the homologous recombination repair pathway, is related to the resistance of cancer cells to chemo- and radio-therapies. This protein is thus a good target for the development of anti-cancer treatments. We have searched for new inhibitors directed against HsRad51 using the Syste...
journal_title：Biochimie
pub_type： 杂志文章
doi：10.1016/j.biochi.2010.08.006
更新日期：2010-12-01 00:00:00
abstract：:I have been involved in research on oxysterols since 1963 and this review is intended to cover some of the most important aspects of this work. The first project dealed with 7α-hydroxy-4-cholesten-3-one. My successful synthesis of this steroid with high specific radioactivity allowed a demonstration that it is a bile ...
journal_title：Biochimie
pub_type： 杂志文章,评审
doi：10.1016/j.biochi.2012.02.029
更新日期：2013-03-01 00:00:00
abstract：:The misfolding of amyloid proteins is closely correlated with the pathogenesis of protein conformation-related diseases, such as Alzheimer's disease (AD), prion disease, and type 2 diabetes mellitus (T2DM). The deposition of human islet amyloid polypeptide (hIAPP) and amyloid-β (Aβ) protein is entangled in AD and diab...
journal_title：Biochimie
pub_type： 杂志文章
doi：10.1016/j.biochi.2020.04.012
更新日期：2020-07-01 00:00:00
abstract：:Recombinant plasmids containing head-to-tail copies of different coat-protein replacement genomes of wheat dwarf virus (WDV) were used to study the mechanism leading to the release of replicating unit-length molecules in suspension culture cells of Triticum monococcum. For plasmids bearing two complete genomes, the vi...
journal_title：Biochimie
pub_type： 杂志文章
doi：10.1016/0300-9084(93)90067-3
更新日期：1993-01-01 00:00:00
abstract：:The lipoprotein complex from human gallbladder bile was challenged with anti-IgA and anti-IgG antisera in order to determine whether the apolipoprotein complex isolated from the detergent-free form of bile lipoprotein contains IgA and IgG. The apolipoprotein complex indeed crossreacts with anti-IgA and anti-IgG. In ad...
journal_title：Biochimie
pub_type： 杂志文章
doi：10.1016/s0300-9084(81)80033-8
更新日期：1981-10-01 00:00:00
abstract：:In 1998, the concept of "green chemistry" was established through twelve principles with the aim of improving the eco-efficiency of chemical processes and to judge, whether or not, a chemical process is sustainable. Currently, numerous processes do not obey to most of these principles (large energy usage, formation of...
journal_title：Biochimie
pub_type： 杂志文章,评审
doi：10.1016/j.biochi.2015.09.019
更新日期：2016-01-01 00:00:00
abstract：:In the present study we have investigated the thermal stability of the globular transport protein human serum albumin (HSA), in the presence of two small chain polyethylene glycols (namely PEG 200 and PEG 400). Both near- and far-UV circular dichroism (CD) study reveal that addition of PEG moderately increases the α-h...
journal_title：Biochimie
pub_type： 杂志文章
doi：10.1016/j.biochi.2014.05.009
更新日期：2014-09-01 00:00:00
abstract：:Innate immune system is the first line of host defense against invading microorganisms. It relies on a limited number of germline-encoded pattern recognition receptors that recognize conserved molecular structures of microbes, referred to as pathogen-/microbe-associated molecular patterns (PAMPs/MAMPs). Bacterial cell...
journal_title：Biochimie
pub_type： 杂志文章,评审
doi：10.1016/j.biochi.2012.06.007
更新日期：2013-01-01 00:00:00
abstract：:The issue of whether histone H1 possesses specificity of binding to certain nucleotide sequences in DNA is of fundamental importance to the suggested role of the linker histone in the regulation of gene transcription. The purpose of the present study was to reinvestigate the specificity of binding of histone H1 to the...
journal_title：Biochimie
pub_type： 杂志文章
doi：10.1016/0300-9084(93)90116-a
更新日期：1993-01-01 00:00:00
abstract：:Virtually all brain circuits are physically embedded in a three-dimensional matrix of fibers that release 5-hydroxytryptamine (5-HT, serotonin). The density of this matrix varies across brain regions and cortical laminae, and it is altered in some mental disorders, including Major Depressive Disorder and Autism Spectr...
journal_title：Biochimie
pub_type： 杂志文章
doi：10.1016/j.biochi.2018.07.014
更新日期：2019-06-01 00:00:00
abstract：:We have previously shown that withdrawal of folic acid led to metabolic reprogramming and a less aggressive phenotype in a mouse cell model of triple-negative breast cancer (TNBC). Herein, we evaluate the effects of folic acid withdrawal on transcriptomic profiles in these cells. Murine cell lines were originally deri...
journal_title：Biochimie
pub_type： 杂志文章
doi：10.1016/j.biochi.2020.04.005
更新日期：2020-06-01 00:00:00
abstract：:The thyroid hormones L-thyroxine and triiodo-L-thyronine have profound effects on postembryonic development of most vertebrates. Analysis of their action in mammals is vitiated by the exposure of the developing foetus to a number of maternal factors which do not allow one to specifically define the role of thyroid hor...
journal_title：Biochimie
pub_type： 杂志文章,评审
doi：10.1016/s0300-9084(99)80082-0
更新日期：1999-04-01 00:00:00
abstract：:The effect of bis-(p-nitrophenyl)phosphate on various glycosyltransferases involved in protein glycosylation (sialyl-, fucosyl-, galactosyl-, mannosyl- and glucosyltransferases) have been studied using crude enzyme preparations solubilized from rat spleen lymphocytes. Bis-(p-nitrophenyl)phosphate appears as a common i...
journal_title：Biochimie
pub_type： 杂志文章
doi：10.1016/s0300-9084(83)80106-0
更新日期：1983-10-01 00:00:00
abstract：:We have analysed the complete sequence of the Escherichia coli K12 isolate MG1655 genome for chromatin-associated protein binding sites, and compared the predicted location of predicted sites with experimental expression data from 'DNA chip' experiments. Of the dozen proteins associated with chromatin in E. coli, only...
journal_title：Biochimie
pub_type： 杂志文章
doi：10.1016/s0300-9084(00)01225-6
更新日期：2001-02-01 00:00:00
abstract：:Since 2012, the interest for TMEM165 increased due to its implication in a rare genetic human disease named TMEM165-CDG (Congenital Disorder(s) of Glycosylation). TMEM165 is a Golgi localized protein, highly conserved through evolution and belonging to the uncharacterized protein family 0016 (UPF0016). Although the pr...
journal_title：Biochimie
pub_type： 杂志文章
doi：10.1016/j.biochi.2019.07.016
更新日期：2019-10-01 00:00:00
abstract：:We have purified, by a three step procedure, a yeast C-nitrosoreductase and studied its action on p-nitroso-N,N-dimethylaniline. Microcalorimetric measurements performed on the microcalorimeter LKB "batch", have been given the number of protons exchanged during the reaction : four protons are involved. Two are given b...
journal_title：Biochimie
pub_type： 杂志文章
doi：10.1016/s0300-9084(75)80132-5
更新日期：1975-01-01 00:00:00
abstract：:Hypertension is the leading cause of preventable mortality worldwide, contributing to over 9 million deaths per annum, predominantly owing to cardiovascular disease. The association of obesity, physical inactivity and alcohol with elevated blood pressure (BP) is firmly established. Weight loss or other dietary strateg...
journal_title：Biochimie
pub_type： 杂志文章,评审
doi：10.1016/j.biochi.2020.03.016
更新日期：2020-06-01 00:00:00
abstract：:Human α(1)-acid glycoprotein (AGP) is a positive acute phase plasma protein containing two disulfide bridges. Structural studies have shown that under specific conditions AGP undergoes aggregation. In this study, we analysed the nature of AGP's aggregates formed under reducing and non-reducing conditions at pH 5.5 and...
journal_title：Biochimie
pub_type： 杂志文章
doi：10.1016/j.biochi.2012.09.005
更新日期：2013-02-01 00:00:00
abstract：:The distribution of fatty acids among cellular glycerophospholipids is finely regulated by the CoA-dependent acylation of lysophospholipids followed by transacylation reactions. Arachidonic acid is the fatty acid precursor of a wide family of bioactive compounds called the eicosanoids, with key roles in innate immunit...
journal_title：Biochimie
pub_type： 杂志文章,评审
doi：10.1016/j.biochi.2009.11.010
更新日期：2010-06-01 00:00:00
abstract：:We have previously proposed that the rate of ribosome function during balanced growth in E. coli, expressed as the rate of peptide chain elongation, is adjusted by a feedback mechanism: whenever that rate is submaximal (i.e. below 22 amino acid residues polymerized per active ribosome at 37 degrees C), the feedback si...
journal_title：Biochimie
pub_type： 杂志文章
doi：10.1016/j.biochi.2007.10.008
更新日期：2008-03-01 00:00:00
abstract：:The interactions between lactic acid bacteria and their phages are commercially significant. Current research has focused on the elucidation of the mechanisms and genetics of phage resistance. Phage resistance genes have been linked to plasmid DNA for Streptococcus lactis and Streptococcus cremoris, and preliminary st...
journal_title：Biochimie
pub_type： 杂志文章,评审
doi：10.1016/0300-9084(88)90215-5
更新日期：1988-03-01 00:00:00
abstract：:Bothropstoxin-I (BthTx-I) is a homodimeric Lys49-PLA2 from the venom of the snake Bothrops jararacussu, which lacks hydrolytic activity against phospholipid substrates, yet permeabilizes membranes by a Ca2+-independent mechanism. The interaction of the BthTx-I with model membranes has been studied by intrinsic tryptop...
journal_title：Biochimie
pub_type： 杂志文章
doi：10.1016/j.biochi.2007.10.012
更新日期：2008-09-01 00:00:00
abstract：:Bacillus subtilis strain SO113 secretes a pectate lyase which is produced during the exponential death phase of growth, just before sporulation. This extracellular pectate lyase, which produces unsaturated products from polygalacturonate, was purified 35-fold from the culture supernatant of Bacillus subtilis by a CM S...
journal_title：Biochimie
pub_type： 杂志文章
doi：10.1016/0300-9084(90)90053-j
更新日期：1990-09-01 00:00:00
abstract：:The proteasome activators known as 11S REG or PA28 were discovered about 10 years ago. They are homo- or heteroheptameric rings that bind to the ends of 20S proteasomes and activate cleavage of peptides but not folded proteins. In this article, we focus on structural features of three homologous REG subunits (termed a...
journal_title：Biochimie
pub_type： 杂志文章,评审
doi：10.1016/s0300-9084(01)01236-6
更新日期：2001-03-01 00:00:00
abstract：:Amyloid beta protein (beta/A4) is deposited in senile plaques of patients with Alzheimer's disease. This protein is derived from a larger membrane-associated protein, termed amyloid precursor protein (APP). The constitutive processing of APP occurs at the central portion of beta/A4, resulting in the release of large N...
journal_title：Biochimie
pub_type： 杂志文章
doi：10.1016/0300-9084(93)90048-w
更新日期：1993-01-01 00:00:00
abstract：:The oncogenic potential of the high-risk human papillomavirus (HPV) relies on the expression of genes specifying the E7 and E6 proteins. To investigate further the variation in oligomeric structure that has been reported for different E7 proteins, an HPV-18 E7 cloned from a Hispanic woman with cervical intraepithelial...
journal_title：Biochimie
pub_type： 杂志文章
doi：10.1016/j.biochi.2010.02.028
更新日期：2010-07-01 00:00:00
abstract：:The hypothesis is proposed that pre-biotic bacterial cell(s) and the first cells capable of growth/division did not require a cytoplasmic membrane. A gel-like microscopic structure less than a cubic micrometer may have had a dual role as both an ancient pre-cytoplasm and a boundary layer to the higher-entropy external...
journal_title：Biochimie
pub_type： 杂志文章
doi：10.1016/j.biochi.2011.10.002
更新日期：2012-01-01 00:00:00
