Human disease

Single-nucleotide polymorphisms (SNP) are common genetic changes in the human genome. In recent time, many scientists have shown their interests in studies on SNPs’ roles in the pathological risk especially in cancer and metabolic diseases.

27p tamynhan0 15-06-2020 18 1   Download

Researching this thesis with a view to: describe the knowledge, attitude and practice (KAP) of farmer exposure to pesticides; determine disease model and describe some factors related to farmer health in cultivating tea; construction and appreciate of effect of interfere model on human health protection suitably for current conditions in Thai Nguyen.

24p nguyenthiminh32 12-07-2014 131 5   Download

The human immunodeficiency virus type 1, HIV-1, genome encodes a highly conserved regulatory gene product, Vpr (96 amino acids), which is incorporated into virions in quantities equivalent to those of the viral Gag protein. In infected cells, Vpr is believed to function during the early stages of HIV-1 replication (such as transcription of the proviral genome and migration of preintegration nuclear complex), blocks cells in G2 phase and triggers apoptosis.

10p system191 01-06-2013 46 4   Download

Trypanosoma brucei is the cause of the diseases known as sleeping sickness in humans (T. brucei ssp. gambiense and ssp. rhodesiense) and ngana in domestic animals (T. brucei brucei) in Africa. Procyclic trypomastigotes, the tsetse vector stage, express a surface-bound trans-sialidase that transfers sialic acid to the glycosylphosphatidylinositol anchor of procyclin, a surface glycoprotein covering the parasite surface. Trans-sialidase is a unique enzyme expressed by a few trypanosomatids that allows them to scavenge sialic acid from sialylated compounds present in the infected host. ...

10p system191 01-06-2013 44 4   Download

Mitochondrial functional and structural impairment and generation of oxidative stress have been implicated in aging, various diseases and chemotherapies. This study analyzed azidothymidine (AZT)-caused failures in mitochondrial functions, in redox regulation and activation of the HIV-1 gene expression. We monitored intracellular concentrations of ATP and glutathione (GSH) as the indicators of energy production and redox conditions, respectively, during the time-course experiments with U937 and MOLT4 human lymphoid cells in the presence of AZT (0.05 mgÆmL)1) or H2O2 (0.01 mM) for 15–25 days.

7p system191 01-06-2013 42 3   Download

Mice expressing a C-terminal fragment of the prion protein instead of wild-type prion protein die from massive neuronal degeneration within weeks of birth. The C-terminal region of PrPc (PrP121–231) expressed in these mice has an intrinsic neurotoxicity to cultured neurones. Unlike PrPSc, which is not neurotoxic to neurones lacking PrPc expression, PrP121–231 was more neurotoxic to PrPc-deficient cells. Human mutations E200K and F198S were found to enhance toxicity of PrP121–231 to PrP-knockout neurones and E200K enhanced toxicity to wild-type neurones.

10p system191 01-06-2013 31 4   Download

Eukaryotic ribonuclease (RNase) H2 consists of one catalytic and two accessory subunits. Several single mutations in any one of these subunits of human RNase H2 cause Aicardi–Goutie`res syndrome. To examine whether these mutations affect the complex stability and activity of RNase H2, three mutant proteins of His-tagged Saccharomyces cerevisiaeRNase H2 (Sc-RNase H2*) were constructed. Sc-G42S*, Sc-L52R*, and Sc-K46W* contain single mutations in Sc-Rnh2Ap*, Sc-Rnh2Bp*, and Sc-Rnh2Cp*, respectively....

14p research12 29-04-2013 38 1   Download

ZntA, a bacterial zinc-transporting P-type ATPase, is homologous to two human ATPases mutated in Menkes and Wilson diseases. To explore the roles of the bacterial ATPase residues homologous to those involved in the humandiseases, we have introduced several pointmutations into ZntA. The mutants P401L, D628A and P634L corres-pond to the Wilson disease mutations P992L, D1267A and P1273L, respectively.

8p research12 29-04-2013 43 3   Download

Here we show, for the ®rst time, thein vitro formation of ®lamentous aggregates of phosphorylated tau protein in SH-SY5Y human neuroblastoma cells. The formation of suchaberrant aggregates, similar to thoseoccurringinvivoin Alzheimer's disease and other tauopathies, requires okadaic acid, a phosphatase inhibitor, to increase the level of phos-phorylated tau, and hydroxynonenal, a product of oxidative stress that selectively adducts and modi®es phosphorylated tau.

6p research12 29-04-2013 31 2   Download

important regulators of biological processes in animals and plants. MiRNAs regulate gene expression at the posttranscriptional level by binding to mRNAs and either inhibit translation or modify the stability of the mRNA. Due to the important biological role of miRNAs it is of great interest to study their expression level in the cells. Furthermore, miRNAs have been associated with cancer and other diseases [1] and miRNA expression can help in the diagnosis and prognostic of human disease [2,3].

11p zingzing09 24-04-2013 51 3   Download

Cyclin-dependent kinase-5 (Cdk5) is a serine/threonine kinase activated by its neuron-specific activator, p35, or its truncated form, p25. It has been proposed that the deregu-lation of Cdk5 activity by association with p25 in human brain tissue disrupts the neuronal cytoskeleton and may be involved in neurodegenerative diseases such as Alzheimer’s disease.

8p research12 23-04-2013 32 2   Download

The Nipah and Hendra viruses are highly pathogenic paramyxoviruses that recently emerged from flying foxes to cause serious disease outbreaks in humans and livestock in Australia, Malaysia, Singapore and Bangladesh. Their unique genetic constitution, high virulence and wide host range set them apart from other paramyxoviruses. These characteristics have led to their classification into the new genus Henpaviruswithin the family Para-myxoviridae and to their designation as Biosafety Level 4 pathogens. ...

10p tumor12 20-04-2013 33 1   Download

Asheat shockproteins (Hsps) are involved inprotecting cells and also in the pathophysiology of diseases such as inflam-mation, cancer and neurodegenerative disorders, modula-tors ofHsp expression inmammalian cells would seemto be useful for the treatment of various diseases. In this study, we isolated mammalian cell lines for screening of Hsp modu-lators; mouse C3H10T1/2 cells stably transfected with a plasmid containing the mouse Hsp105 or human Hsp70B promoter upstream of a luciferase or b-galactosidase reporter gene, respectively....

8p tumor12 20-04-2013 30 5   Download

Diseases transmitted by hematophagous (blood-feeding) insects are responsible for millions of human deaths world-wide. Inhematophagous insects, thebloodmeal is important for regulating egg maturation. Although a high concentra-tion of iron is toxic for most organisms, hematophagous insects seemunaffectedby the iron load inabloodmeal.One means by which hematophagous insects handle this iron load is, perhaps, by the expression of iron-binding proteins, specifically the iron storage protein ferritin....

8p tumor12 20-04-2013 45 3   Download

Human acid sphingomyelinase (haSMase, EC 3.1.4.12) catalyzes the lysosomal degradation ofsphingomyelin to ceramide and phosphorylcholine. An inherited haSMase deficiency leads toNiemann–Pick disease, a severe sphingo-lipid storage disorder. The enzyme was purified and cloned over 10 years ago. Since then, only a fewstructural properties of haSMase have been elucidated.

13p tumor12 20-04-2013 35 1   Download

Humanpancreatic secretions contain twomajor trypsinogen isoforms, cationic and anionic trypsinogen, normally at a ratio of 2 : 1. Pancreatitis, pancreatic cancer and chronic alcoholism lead to a characteristic reversal of the isoform ratio, and anionic trypsinogen becomes the predominant zymogen secreted. To understand the biochemical conse-quences of these alterations, we recombinantly expressed and purified both human trypsinogens and documented characteristics of autoactivation, autocatalytic degradation and Ca 2+ -dependence....

12p fptmusic 16-04-2013 40 3   Download

Galactokinase (EC 2.7.1.6) catalyzes the first committed step in the catabolism of galactose. The sugar is phosphor-ylated at position 1 at the expense of ATP. Lack of fully functional galactokinase is one cause of the inherited disease galactosemia, the main clinical manifestation of which is early onset cataracts. Human galactokinase (GALK1) was expressed in and purified fromEscherichia coli.The recom-binant enzyme was both soluble and active.

8p fptmusic 16-04-2013 40 3   Download

3-Hydroxyacyl-CoA dehydrogenase (HAD) functions in mitochondrial fatty acid b-oxidation by catalyzing the oxidation of straight chain 3-hyd-roxyacyl-CoAs. HAD has a preference for medium chain substrates, whereas short chain 3-hydroxyacyl-CoA dehydrogenase (SCHAD) acts on a wide spectrum of substrates, including steroids, cholic acids, and fatty acids, with a preference for short chain methyl-branched acyl-CoAs.

10p fptmusic 12-04-2013 34 3   Download

Human amylin (hA) is a small fibrillogenic protein that is the major con-stituent of pancreatic islet amyloid, which occurs in most subjects with type-2 diabetes mellitus (T2Dm). There is growing evidence that hA toxic-ity towards islet b-cells is responsible for their gradual loss of function in T2Dm. Preventing hA-mediated cytotoxicity has been proposed as a route to halt the progression of this disease, although this has not yet been dem-onstratedin vivo.

11p fptmusic 12-04-2013 30 1   Download

Rogers syndrome is an autosomal recessive disorder result-ing in megaloblastic anemia, diabetes mellitus, and sensori-neural deafness. The gene associated with this disease encodes for thiamine transporter 1 (THTR1), a member of the SLC19 solute carrier family including THTR2 and the reduced folate carrier (RFC). Using transient transfections into NIH3T3 cells of a D93H mutant THTR1derived from a Rogers syndrome family, we determined the expression, post-translational modification, plasma mem-brane targeting and thiamine transport activity.

9p fptmusic 12-04-2013 45 3   Download