Abstract:
:Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive lipid-storage disorder caused by a deficiency of the mitochondrial sterol 27-hydroxylase. Genetic analysis utilizing SSCP and direct DNA sequencing identified a new mutation. One base-pair of cytosine was deleted at codon 326 on exon 2 of CYP27 in all CTX patients while their father was heterozygotic. This novel point deletion predicts a frameshift in mRNA (Pro(102) -->Leu) and results in the appearance of a premature termination codon (TGA) to substitute for Val(106) (GTG). To characterize the pathological mechanism of CTX patients, the protein profiles of serum and leukocytes extracted from these subjects were presented by means of proteomic technologies including 2-DE and MALDI-TOF analysis. According to the results, the amount of vinculin, ABP-280, talin and vimentin in leukocytes of CTX patients had changed significantly, reflecting the changes in membrane dynamics concerning cholestanol accumulation. The expression of target proteins in CTX patients and control was further verified by western blotting which indicated the same tendency as 2-DE data. This is the first paper to integrate both genomic and proteomic concepts for analyzing the possible mechanism of CTX and provides more information for related study in the future.
journal_name
Proteomicsjournal_title
Proteomicsauthors
Wang PW,Chang WN,Lu CH,Chao D,Schrag C,Pan TLdoi
10.1002/pmic.200500159subject
Has Abstractpub_date
2006-02-01 00:00:00pages
1029-37issue
3eissn
1615-9853issn
1615-9861journal_volume
6pub_type
杂志文章相关文献
PROTEOMICS文献大全abstract::In the present study, changes in protein synthesis patterns after salt shock visualized by 35S-methionine labeling and the changed protein composition in salt-acclimated cells of the cyanobacterium Synechocystis sp. strain PCC 6803 were analyzed by a combination of 2-DE for protein separation and PMF for protein ident...
journal_title:Proteomics
pub_type: 杂志文章
doi:10.1002/pmic.200500538
更新日期:2006-05-01 00:00:00
abstract::New insights on cellular heterogeneity in the last decade provoke the development of a variety of single cell omics tools at a lightning pace. The resultant high-dimensional single cell data generated by these tools require new theoretical approaches and analytical algorithms for effective visualization and interpreta...
journal_title:Proteomics
pub_type: 杂志文章,评审
doi:10.1002/pmic.201600267
更新日期:2017-02-01 00:00:00
abstract::The 26S proteasome is a multicatalytic protease complex that degrades ubiquitinated proteins in eukaryotic cells. It consists of a proteolytic core (the 20S proteasome) as well as regulatory particles, which contain six ATPase (Rpt) subunits involved in unfolding and translocation of substrates to the catalytic chambe...
journal_title:Proteomics
pub_type: 杂志文章
doi:10.1002/pmic.201300207
更新日期:2013-11-01 00:00:00
abstract::The metacestode larval stage of Taenia solium is the causal agent of a zoonotic disease called cysticercosis. The disease has an important impact on pork trade (due to porcine cysticercosis) and public health (due to human neurocysticercosis). In order to improve the current diagnostic tools and to get a better unders...
journal_title:Proteomics
pub_type: 杂志文章
doi:10.1002/pmic.201100496
更新日期:2012-06-01 00:00:00
abstract::Most proteins execute their functions through interacting with other proteins. Thus, understanding protein-protein interactions (PPIs) is essential to decipher biological functions in a living cell. To predict large-scale PPIs, effective and efficient computational approaches are desirable to integrate heterogeneous d...
journal_title:Proteomics
pub_type: 杂志文章
doi:10.1002/pmic.201200326
更新日期:2013-01-01 00:00:00
abstract::MDM2 is a multidomain protein that functions as an E3 ubiquitin ligase, transcription repressor, mRNA-binding protein, translation factor, and molecular chaperone. The small molecule Nutlin-3 has been engineered to bind to the N-terminal hydrophobic pocket domain of MDM2. This binding of Nutlin-3 has two consequences:...
journal_title:Proteomics
pub_type: 杂志文章
doi:10.1002/pmic.201300029
更新日期:2013-08-01 00:00:00
abstract::Employing classical two-dimensional electrophoresis (2-DE), amino acid sequencing and immunoblot analysis, we examine for the first time the effect of ozone, a highly notorious environmental pollutant, on rice seedling proteins. Drastic visible necrotic damage to leaf by ozone and consequent increase in ascorbate pero...
journal_title:Proteomics
pub_type: 杂志文章
doi:10.1002/1615-9861(200208)2:8<947::AID-PROT947>3.0.
更新日期:2002-08-01 00:00:00
abstract::The sample preparation procedures established for Prorocentrum triestinum were adapted to cover both thecate and athecate dinoflagellates. Further, whether trichloroacetic acid (TCA) precipitation can be used to fix and preserve the harmful or nuisance species from local waters that they infest was tested. Optimized t...
journal_title:Proteomics
pub_type: 杂志文章
doi:10.1002/pmic.200300548
更新日期:2004-01-01 00:00:00
abstract::Prostate cancer is one of the leading cancers in men. Taking dietary supplements, such as fish oil (FO), which is rich in n-3 polyunsaturated fatty acids (PUFAs), has been employed as a strategy to lower prostate cancer risk and control disease progression. In this study, we investigated the global phosphoproteomic ch...
journal_title:Proteomics
pub_type: 杂志文章
doi:10.1002/pmic.201600166
更新日期:2016-09-01 00:00:00
abstract::We have developed a proteome database (DB), BiomarkerDigger (http://biomarkerdigger.org) that automates data analysis, searching, and metadata-gathering function. The metadata-gathering function searches proteome DBs for protein-protein interaction, Gene Ontology, protein domain, Online Mendelian Inheritance in Man, a...
journal_title:Proteomics
pub_type: 杂志文章
doi:10.1002/pmic.200800593
更新日期:2009-07-01 00:00:00
abstract::The explosion of site- and context-specific in vivo phosphorylation events presents a potentially rich source of biological knowledge and calls for novel data analysis and modeling paradigms. Perhaps the most immediate challenge is delineating detected phosphorylation sites to their effector kinases. This is important...
journal_title:Proteomics
pub_type: 杂志文章,评审
doi:10.1002/pmic.200900266
更新日期:2009-12-01 00:00:00
abstract::In the obese state, as adipose tissue expands, adipocytes become hypoxic and dysfunctional, leading to changes in the pattern of adipocyte-secreted proteins. To better understand the role of hypoxia in the mechanisms linked to obesity, we comparatively analyzed the secretome of murine differentiated 3T3-L1 adipocytes ...
journal_title:Proteomics
pub_type: 杂志文章
doi:10.1002/pmic.201700260
更新日期:2018-04-01 00:00:00
abstract::"Liquid biopsies" have received attention as a complementary tool for traditional tissue biopsies that may enhance the spectrum of analysis for tumor-derived factors. One such factor gaining prominence in the liquid biopsy field is extracellular vesicles (EVs), membrane-bound nanovesicles which are secreted by cells i...
journal_title:Proteomics
pub_type: 杂志文章,评审
doi:10.1002/pmic.201800155
更新日期:2019-01-01 00:00:00
abstract::Familial hemiplegic migraine type 1 (FHM1) is caused by missense mutations in the CACNA1A gene that encodes the alpha1A pore-forming subunit of Ca(V)2.1 Ca(2+) channels. Knock-in (KI) transgenic mice expressing Ca(V)2.1 Ca(2+) channels with a human pathogenic FHM1 mutation reveal enhanced glutamatergic neurotransmissi...
journal_title:Proteomics
pub_type: 杂志文章
doi:10.1002/pmic.200900733
更新日期:2010-07-01 00:00:00
abstract::A low virulent Candida albicans mutant, CNC13, deleted in the Mitogen Activated Protein (MAP) kynase HOG1 was used to immunize BALB/c mice. Hog1p is essential for the oxidative stress and hyperosmolarity responses. Several doses and immunization procedures were employed. The protection capacity of the different sera g...
journal_title:Proteomics
pub_type: 杂志文章
doi:10.1002/pmic.200300678
更新日期:2004-04-01 00:00:00
abstract::The endothelium is a single layer of cells lining the inside face of all blood vessels. It constitutes a major metabolic organ which is critically involved in the generation and the regulation of multiple physiological and pathological processes such as coagulation, hemostasis, inflammation, atherosclerosis, angiogene...
journal_title:Proteomics
pub_type: 杂志文章
doi:10.1002/pmic.200300409
更新日期:2003-05-01 00:00:00
abstract::Following transmission to the vertebrate host, the protozoan parasite Leishmania donovani differentiates into the pathogenic amastigote stage that is adapted for intracellular survival. This developmental transition is induced by environmental factors including elevated temperature and acidic pH and is likely transduc...
journal_title:Proteomics
pub_type: 杂志文章
doi:10.1002/pmic.200700697
更新日期:2008-01-01 00:00:00
abstract::Protein interactions have been at the focus of computational biology in recent years. In particular, interest has come from two different communities--structural and systems biology. Here, we will discuss key systems and structural biology methods that have been used for analysis and prediction of protein-protein inte...
journal_title:Proteomics
pub_type: 杂志文章,评审
doi:10.1002/pmic.201100597
更新日期:2012-05-01 00:00:00
abstract::Cancer cells maintain their intracellular ROS concentrations at required levels for their survival. Changes in ROS concentrations can regulate biochemical signaling mechanisms that control cell function. It has been demonstrated that ROS regulate the cellular events through redox regulation of redox-sensitive proteins...
journal_title:Proteomics
pub_type: 杂志文章,评审
doi:10.1002/pmic.201400164
更新日期:2015-01-01 00:00:00
abstract::The community working on model organisms is growing steadily and the number of model organisms for which proteome data are being generated is continuously increasing. To standardize efforts and to make optimal use of proteomics data acquired from model organisms, a new Human Proteome Organisation (HUPO) initiative on ...
journal_title:Proteomics
pub_type: 杂志文章
doi:10.1002/pmic.201290014
更新日期:2012-02-01 00:00:00
abstract::During early stages of embryo development, the brain cavity is filled with embryonic cerebrospinal fluid (E-CSF), a complex fluid containing different protein fractions that contributes to the regulation of the survival, proliferation and neurogenesis of the neuroectodermal stem cells. Using 2-DE, protein sequencing a...
journal_title:Proteomics
pub_type: 杂志文章
doi:10.1002/pmic.200500085
更新日期:2006-01-01 00:00:00
abstract::Canonical isoforms in different databases have been defined as the most prevalent, most conserved, most expressed, longest, or the one with the clearest description of domains or posttranslational modifications. In this article, we revisit these definitions of canonical isoforms based on functional genomics and proteo...
journal_title:Proteomics
pub_type: 杂志文章
doi:10.1002/pmic.201400170
更新日期:2014-12-01 00:00:00
abstract::Advances in gel-based nonradioactive protein expression and PTM detection using fluorophores has served as the impetus for developing analytical instrumentation with improved imaging capabilities. We describe a CCD camera-based imaging instrument, equipped with both a high-pressure Xenon arc lamp and a UV transillumin...
journal_title:Proteomics
pub_type: 杂志文章
doi:10.1002/pmic.200500062
更新日期:2005-11-01 00:00:00
abstract::The gut epithelium formed between an organism and the environment plays an essential role in host-microbe interactions, yet remains one of the least characterized mammalian tissues. Especially the membrane proteins, which are critical to bacterial adhesion, are understudied, because these proteins are low in abundance...
journal_title:Proteomics
pub_type: 杂志文章
doi:10.1002/pmic.201500024
更新日期:2015-07-01 00:00:00
abstract::The use of anthrax spores as a bioweapon has spurred efforts aimed at identifying key proteins expressed in Bacillus anthracis. Because spore germination and outgrowth occur prior to and are required for disease manifestations, blocking germination and early outgrowth with novel vaccines or inhibitors targeting critic...
journal_title:Proteomics
pub_type: 杂志文章
doi:10.1002/pmic.200400831
更新日期:2004-09-01 00:00:00
abstract::Ruminants make large contributions to sustainable agriculture by converting crop by-products into agricultural food. Multi-omics integrative analysis helps to uncover the underlying molecular mechanisms. The liver metabolome-transcriptome interface (LMTI) in dairy cows, including 3938 significant correlations (p < 0.0...
journal_title:Proteomics
pub_type: 杂志文章
doi:10.1002/pmic.201800122
更新日期:2018-08-01 00:00:00
abstract::We here present a user-friendly and extremely lightweight tool that can serve as a stand-alone front-end for the Open MS Search Algorithm (OMSSA) search engine, or that can directly be used as part of an informatics processing pipeline for MS driven proteomics. The OMSSA graphical user interface (OMSSAGUI) tool is wri...
journal_title:Proteomics
pub_type: 杂志文章
doi:10.1002/pmic.200701126
更新日期:2008-06-01 00:00:00
abstract::During clinical mastitis in dairy cows, the quantity of milk produced decreases and the composition of the milk is altered. As the severity of inflammation associated with the disease increases, the chemical composition of milk approaches that of blood as a consequence of increased permeability of the blood mammary ba...
journal_title:Proteomics
pub_type: 杂志文章
doi:10.1002/pmic.200300723
更新日期:2004-07-01 00:00:00
abstract::Current knowledge of the physiology and phylogeny of polycyclic aromatic hydrocarbon (PAH) degrading bacteria often relies on laboratory enrichments and isolations. In the present study, in situ microcosms consisting of activated carbon pellets (BACTRAP®s) were loaded with either (13) C-naphthalene or (13) C-fluorene ...
journal_title:Proteomics
pub_type: 杂志文章
doi:10.1002/pmic.201200569
更新日期:2013-10-01 00:00:00
abstract::Nitric oxide (NO) is a universal signaling molecule and plays a negative role in the metamorphosis of many biphasic organisms. Recently, the NO/cGMP (cyclic guanosine monophosphate) signaling pathway was reported to repress larval settlement in the barnacle Amphibalanus amphitrite. To understand the underlying molecul...
journal_title:Proteomics
pub_type: 杂志文章
doi:10.1002/pmic.201500112
更新日期:2015-11-01 00:00:00