Genes for lipid. Medical search. Frequent questions

Interestingly, most mRNAs involved in lipid metabolism are overexpressed after hatching (FASN, SCD1, ACOX1), whereas genes implicated in carbohydrate metabolism (HK1, GAPDH, GLUT1) and development (HGF, IGF, FGFR2) are predominantly overexpressed from E12 to E20. (biomedcentral.com)
We previously observed that treatment of mice with a dominant negative form of cJun (dn-cJun) increased the expression of genes involved in lipid metabolism and modulated the expression of nine microRNAs (miR). (nih.gov)
Common single nucleotide polymorphisms (SNPs) in genes involved in lipid metabolism are potentially important genetic markers in affecting normal variation in the plasma or serum lipid profiles and thus determining susceptibility or resistance to CHD in the general population. (biomedcentral.com)

This paper reports on the kinetics of accumulation of these lipid classes during pollen maturation and the expression patterns of several lipid biosynthetic genes and their protein products that are differentially regulated in developing microspores/ pollen grains (gametophyte) and tapetal cells (sporophyte) of B. napus. (nih.gov)
One of those molecules, phosphatidylcholine transfer protein (PCTP), suppresses the activity of the other, PPARdelta, a gene regulator critical in burning fat and energy metabolism, under conditions of overnutrition. (anl.gov)
Also published in Brain , their latest discovery is important as the protein encoded by TMEM63C is located in the region of the cell where the lipid processing pathways they identified operate. (sflorg.com)
For example, RGD peptide-based lipids can be used to deliver mRNA encoding a therapeutic protein, while an antibody can be used to enhance the specificity of the therapy. (avantilipids.com)
South Asians exhibited significantly higher skeletal muscle gene expression of CPT1A and FASN and significantly lower skeletal muscle protein expression of PI3K and PKB Ser473 phosphorylation. (gla.ac.uk)
Our symposia at Discover BMB , the annual meeting of the American Society for Biochemistry and Molecular Biology, in Seattle in March will bring together leading investigators in lipid metabolism and membrane function in replication of microorganisms and viruses, communicate novel protein structural information in lipid metabolism and transport, and promote the understanding of membrane structure and biophysics in cell physiology. (asbmb.org)
Lipid and membrane enthusiasts and anyone interested in learning more about lipid metabolism, lipid-protein interactions or membrane structure. (asbmb.org)
The ABCG8 gene provides instructions for making sterolin-2, which makes up half of a protein called sterolin. (medlineplus.gov)
The other half of the sterolin protein, sterolin-1, is produced from a gene called ABCG5 . (medlineplus.gov)
Researchers suggest that the ABCG8 gene changes that increase the risk of gallstones may result in a sterolin transporter protein that pumps more cholesterol than usual into bile. (medlineplus.gov)
Gene therapy in cancer means to replace abnormal gene by healthy one that enables to perform and bring forth normal protein required for normal growth, function, and division of body cells. (pharmafocusasia.com)
Choline kinase beta (CK), also known as Ethanolamine kinase (EK), Choline kinase-like protein , choline/ethanolamine kinase beta (CKEKB), or Choline/ethanolamine kinase is a protein encoded by the CHKB gene. (wikipedia.org)
The CHKB gene produces a 7 kDa protein composed of 60 amino acids. (wikipedia.org)
The CHKB gene encodes for a key protein in phospholipid biosynthesis. (wikipedia.org)
The highly purified choline kinases from mammalian sources and their recombinant gene products have been shown to have ethanolamine kinase activity as well, indicating that both activities reside on the same protein. (wikipedia.org)
Lipid uptake occurs through caveolae, plasma membrane invaginations formed by caveolins (CAV) and caveolae-associated protein 1 (CAVIN1). (aacrjournals.org)
Most individuals with AMACR deficiency have an AMACR gene mutation that replaces a protein building block (amino acid) called serine with an amino acid called proline at position 52 in the enzyme sequence, written as Ser52Pro or S52P. (medlineplus.gov)
The protein encoded by this gene is a neuron-specific activator of CDK5 kinase. (nih.gov)
Apolipoprotein E (ApoE) a protein component of bloodstream lipid particles has an important function in lipid transportation. (careersfromscience.org)
More than 90% of diabetes cases are type 2 diabetes characterized by persistent increase in glucose (hyperglycemia), lipid, and protein metabolic disorders that may induce insulin resistance. (nioh.ac.za)
[ 6 ] ABCA12 encodes a transmembrane protein that mediates lipid transport. (medscape.com)
Genes and Chromosomes Genes are segments of deoxyribonucleic acid (DNA) that contain the code for a specific protein that functions in one or more types of cells in the body or the code for functional ribonucleic. (msdmanuals.com)

Lipids not only taste delicious (at least in our opinion) but are the major components of biological membranes and play essential roles in most aspects of human biology. (asbmb.org)
In fact, if we look closely at the lipids and membranes of eukaryotes and prokaryotes, we see they contribute to fundamental roles in compartmentalizing cells, stress responses, metabolism, gene regulation, inflammation, and activating both cell protective and cell destructive mechanisms. (asbmb.org)
As such, the study of lipids and membranes remains a critical and emerging area for cutting-edge research - one that has great potential to impact human health and the understanding and treatment of diseases. (asbmb.org)
Changes in the lipid composition of the membranes of red blood cells and platelets may account for the other blood abnormalities that sometimes occur in sitosterolemia. (medlineplus.gov)
Also present are polyethylene glycol, and yes, even some cholesterol - which has a normal role in lipid membranes to make them less leaky - to hold their contents better. (eurekalert.org)
Plasmalogens may also play important roles in interactions between lipids and proteins, the transmission of chemical signals in cells, and the fusion of cell membranes. (medlineplus.gov)
The ABC superfamily of genes encodes proteins that transport a number of substrates across cell membranes. (medscape.com)

This is one of many tasks regulated by lipid transport proteins such as PCTP. (anl.gov)
Their interaction was strong, selective, and new: PPARdelta was known to interact with lipid transport proteins but not phosphatidylcholine transport proteins. (anl.gov)
Twenty men of South Asian ethnic origin and 20 age and BMI-matched men of white European descent underwent exercise and metabolic testing and provided a muscle biopsy to determine expression of oxidative and lipid metabolism genes and of insulin signalling proteins. (gla.ac.uk)
The choline kinase (CK) and ethanolamine kinase (EK) proteins, which are coded by the CHKB gene, catalyze the phosphorylation of choline/ethanolamine in vitro to phosphocholine/phosphoethanolamine. (wikipedia.org)
The genes encoding non-specific lipid transfer proteins (nsLTPs), members of a small multigene family, show a complex pattern of expressional regulation, suggesting that some diversification may have resulted from changes in their expression after duplication. (korea.ac.kr)
For example, modifying a chemical reaction called methylation can change the function of a gene, causing it to increase or decrease production of certain proteins or to produce different kinds of proteins. (msdmanuals.com)

Fat oxidation, fitness and skeletal muscle expression of oxidative/lipid metabolism genes in South Asians: implications for insulin resistance? (gla.ac.uk)
These data indicate that reduced oxidative capacity and capacity for fatty acid utilisation at the whole body level are key features of the insulin resistant phenotype observed in South Asians, but that this is not the consequence of reduced skeletal muscle expression of oxidative and lipid metabolism genes. (gla.ac.uk)
Hence, the current review aimed to summarize the prominent role of lipid metabolism genes such as PCSK9, ApoB, ApoA5, ApoC3, ApoE, and ABCA1 in mediating ischemic stroke occurrence. (current-pharmaceutical-design.com)

The mutations reduced lipid binding, which reduced PTCP's ability to repress PPARdelta. (anl.gov)
At least 28 ABCG8 gene mutations have been identified in people with sitosterolemia, which is a condition caused by accumulation of plant sterols. (medlineplus.gov)
Alpha-methylacyl-CoA racemase (AMACR) deficiency is caused by mutations in the AMACR gene. (medlineplus.gov)
AMACR gene mutations that result in a lack of functional AMACR enzyme have also been identified in infants with a life-threatening disorder called congenital bile acid synthesis defect type 4. (medlineplus.gov)
Mutations in the gene encoding peroxisomal alpha-methylacyl-CoA racemase cause adult-onset sensory motor neuropathy. (medlineplus.gov)
At least five mutations in the GNPAT gene have been found to cause rhizomelic chondrodysplasia punctata type 2 (RCDP2). (medlineplus.gov)
Etherphospholipid biosynthesis and dihydroxyactetone-phosphate acyltransferase: resolution of the genomic organization of the human gnpat gene and its use in the identification of novel mutations. (medlineplus.gov)
Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene. (jax.org)
Subjects with mutations in the SBP2 gene have decreased levels of several selenoproteins, resulting in a complex phenotype. (elsevierpure.com)
However, lipid peroxidation and the effects of antioxidants in subjects with SBP2 gene mutations have not been studied. (elsevierpure.com)
In the present study, we evaluated the lipid peroxidation products in the blood of a subject (the proband) with mutations in the SBP2 gene. (elsevierpure.com)
Collectively, these results clearly indicate that free radical-mediated oxidative stress is increased in the subject with SBP2 gene mutations and that Vitamin E treatment effectively inhibits the generation of lipid peroxidation products. (elsevierpure.com)
Mutations in ABCA12 , a gene that encodes adenosine triphosphate (ATP)-binding cassette transporter (ABC), subfamily A, member 12, in chromosome region 2q35, underlie this disorder. (medscape.com)
Most people with FH have heterozygous FH, meaning they have only one FH-causing mutation, but in rare cases, a person can have homozygous FH, meaning they have FH-causing mutations in both copies of the gene. (cdc.gov)

Detailed analysis of three members of the stearoyl-ACP desaturase (sad) gene family by Northern blotting, in situ hybridization and RT-PCR showed that the same individual genes were expressed both in gametophytic and sporophytic tissues, although under different temporal regulation. (nih.gov)
Gene expression analysis suggested that the differences derived from repression of PPARdelta gene regulation activity. (anl.gov)
In addition to this specific localization, Dr Luis-Carlos Tabara Rodriguez, a Postdoctoral Fellow in Prudent's lab, also uncovered that TMEM63C controls the morphology of both the endoplasmic reticulum and mitochondria, which may reflect its role in the regulation of the functions of these organelles, including lipid metabolism homeostasis. (sflorg.com)
Impaired gene can't perform their essential role in regulation of cellular function either due to overactive or mutation. (pharmafocusasia.com)
MicroRNAs is a non-coded double stranded RNAs made of approximately of 20 nucleotides disclosed in 1993 by Ambros and Ruvkun laboratories that has significant role in regulation of gene expression at post transcriptional level [1-2]. (pharmafocusasia.com)
These results uncover a mechanism that couples mTORC2-dependent activation of PKN2 to the regulation of mTORC1-mediated nutrient signalling by local lipid signals. (nature.com)
Background: Sirtuin 1 (Sirt1) and sirtuin 3 (Sirt3) participate in the regulation of lipid metabolism. (edu.pl)
Public health relevance: Our findings demonstrate the genetic contribution of common and rare SCARB1 and ABCA1 variants to the regulation of lipoprotein-lipid levels in the general population, supporting the roles of SCARB1 and ABCA1 genes in lipid metabolism. (pitt.edu)
Individuals who suffer from type 2 diabetes are partly characterized by down-regulation of glucose transport and mitochondrial lipid oxidizing genes. (nioh.ac.za)

Alterations in plasma lipid and lipoprotein composition including a tendency toward an increase in total cholesterol (TC) and triglyceride (TG) and decrease in high-density lipoprotein cholesterol (HDL-C) levels suggest that psoriasis may associate with the disorders of lipid metabolism [ 25 , 26 ]. (hindawi.com)
The genes they identified are all involved in processing lipids - in particular cholesterol - inside brain cells. (sflorg.com)
This further bolster the hypothesis that MNDs are caused by abnormal processing of lipids including cholesterol. (sflorg.com)
The researchers synthesized a series of RGD peptide-conjugated ionizable lipids The lipids were formulated with DOPE, cholesterol, and lipid-PEG to form lipid nanoparticles which were used to deliver mRNA in vitro and in vivo , as well as co-deliver Cas9 mRNA and sgRNA for evaluation as a platform for gene editing applications. (avantilipids.com)
We explore whether additional loci associated with plasma-lipid phenotypes, such as high-density lipoprotein cholesterol (HDL-C), low-density lipoprotein cholesterol (LDL-C), total cholesterol (TC), and triglycerides (TGs), can be identified by a dense gene-centric approach. (ox.ac.uk)
image: Researchers developed nanoparticles that carry a gene editing package specifically to the liver in mice, successfully reducing levels of LDL 'bad' cholesterol in the blood. (eurekalert.org)
In a study published today in the Proceedings of the National Academy of Sciences , they have shown that they can use the lipid nanoparticles (LNPs) to efficiently deliver the CRISPR machinery into the liver of mice, resulting in specific genome editing and the reduction of blood cholesterol levels by as much as 57% -- a reduction that can last for at least several months with just one shot. (eurekalert.org)
The Tufts and Broad researchers, however, have modified one gene that could provide a protective effect against elevated cholesterol if it can be shut down by gene editing. (eurekalert.org)
If researchers can knock out the Angptl3 gene, they can let the lipases do their work and reduce levels of cholesterol in the blood. (eurekalert.org)
It turns out that some lucky people have a natural mutation in their Angptl3 gene, leading to consistently low levels of triglycerides and low-density lipoprotein (LDL) cholesterol, commonly called "bad" cholesterol, in their bloodstream without any known clinical downsides. (eurekalert.org)
If we can replicate that condition by knocking out the angptl3 gene in others, we have a good chance of having a safe and long term solution to high cholesterol," said Qiaobing Xu, associate professor of biomedical engineering at Tufts' School of Engineering and corresponding author of the study. (eurekalert.org)
After a single injection of lipid nanoparticles packed with mRNA coding for CRISPR-Cas9 and a single-guide RNA targeting Angptl3, they observed a profound reduction in LDL cholesterol by as much as 57% and triglyceride levels by about 29 %, both of which remained at those lowered levels for at least 100 days. (eurekalert.org)
Several common genetic polymorphisms in the low density lipoprotein receptor (LDL-R) gene have associated with modifications of serum total cholesterol (TC) and low density lipoprotein cholesterol (LDL-C) levels, but the results are not consistent in different populations. (biomedcentral.com)
Since the LDL-R gene plays an important role in cholesterol homeostasis [ 28 ], it is also possible that genetic variations in this gene may exist that have only a small effect on the function of the receptor. (biomedcentral.com)
Identification of the causative genetic mutation can facilitate screening of family members-cholesterol levels can change but genes don't-but the diagnosis of those with FH is what matters most. (cdc.gov)

Our data suggest that miR-370 acting via miR-122 may have a causative role in the accumulation of hepatic triglycerides by modulating initially the expression of SREBP-1c, DGAT2, and Cpt1alpha and, subsequently, the expression of other genes that affect lipid metabolism. (nih.gov)
Triglycerides are lipid compounds composed of a glycerol esterified to 3 fatty acid chains of varying length and composition. (medscape.com)
Unusually low levels of triglycerides can be present in disease states, producing syndromes of malabsorption in addition to patients who carry genes for familial hypobetalipoproteinemia . (medscape.com)
[ 4 ] If pancreatitis is likely or potentially threatening and levels of triglycerides are found to be 1000 mg/dL or greater, immediate institution of lipid lowering therapy should begin. (medscape.com)

A cationic cyclodextrin derivative-lipid hybrid nanoparticles for gene delivery effectively promotes stability and transfection efficiency. (bvsalud.org)

Multi-ancestry genome-wide gene-smoking interaction study of 387,272 individuals identifies new loci associated with serum lipids. (hjarta.is)
Taken together, our results suggest serum lipids, kidney function and especially diastolic pressure rather than systolic pressure were improved in CEN or their offspring, suggesting these factors may play an important role in familial longevity. (nature.com)

Abnormal Blood Lipids: Is It Environment or Is It Genes? (nursingcenter.com)
Abnormal Blood Lipids: Is I. (nursingcenter.com)
Title : Genetic variants associated with fasting blood lipids in the U.S. population: Third National Health and Nutrition Examination Survey Personal Author(s) : Chang, Man-huei;Yesupriya, Ajay;Ned, Renée M.;Mueller, Patricia W.;Dowling, Nicole F. (cdc.gov)

Major independent risk factors for coronary heart disease, including adverse levels of plasma lipids and lipoproteins, are also influenced by genetic and potentially modifiable environmental factors. (nursingcenter.com)
The explained phenotypic variance from this approach was comparable to that from a meta-analysis of GWAS data, suggesting that a focused genotyping approach can further increase the understanding of heritability of plasma lipids. (ox.ac.uk)

The present study was undertaken to detect the association of LDL-R gene Ava ║ polymorphism and serum lipid levels in the Guangxi Bai Ku Yao and Han populations. (biomedcentral.com)
Genotyping of the LDL-R gene Ava ║ polymorphism was performed by polymerase chain reaction and restriction fragment length polymorphism combined with gel electrophoresis, and then confirmed by direct sequencing. (biomedcentral.com)
The association of LDL-R gene Ava ║ polymorphism and serum lipid levels is different between the Bai Ku Yao and Han populations. (biomedcentral.com)
The discrepancy might partly result from different LDL-R gene Ava ║ polymorphism or LDL-R gene-enviromental interactions. (biomedcentral.com)
For example, variants of the ADIPOQ gene (the rs266729 single-nucleotide polymorphism) are associated with obesity and diabetes in various Arab countries. (who.int)

Recent advances in molecular biology have resulted in the identification of specific genes associated with lipid disorders. (nursingcenter.com)
Gene editing has emerged as a promising strategy for treating a wide range of genetic disorders. (avantilipids.com)
This approach has the potential to improve the efficacy of gene therapies and address the challenges of treating complex genetic disorders. (avantilipids.com)
Lipid storage disorders are a family of diverse diseases related by their molecular pathology. (medscape.com)
The biochemical basis of lipid storage disorders is well characterized and includes determining properties of enzymatic activities and various storage products. (medscape.com)
Dietary restriction has shown promise for disorders such as lysosomal acid lipase deficiency (Wolman disease), as has incorporation of lipid-lowering drugs in the regimen along with sebelipase alpha, a recombinant enzyme replacement therapy. (medscape.com)
Various disorders of lipid metabolism have characteristic patterns of organ involvement and clinical history, depending on the particular substrate that is stored. (medscape.com)
All lipid storage disorders are inherited in an autosomal-recessive fashion, except for Fabry disease and mucopolysaccharidosis type II (Hunter disease), which are X-linked. (medscape.com)
Thus, various disorders of lipid metabolism have characteristic patterns of organ involvement and clinical history, depending on the particular substrate that is stored. (medscape.com)
Lipid storage disorders are rare disorders, although some have an ethnic predilection with more appreciable frequency. (medscape.com)
Duchenne Muscular Dystrophy and Becker Muscular Dystrophy Muscular dystrophies are a group of inherited muscle disorders in which one or more genes needed for normal muscle structure and function are defective, leading to muscle weakness of varying. (msdmanuals.com)

NLC is second generation solid lipid nanoparticle comprised of solid lipid mixed with liquid lipid (oil) which is advancement in solid lipid nanoparticles. (pharmafocusasia.com)
Lipid-based nanoparticle (LBNP) systems represent one of the most promising colloidal carriers for bioactive organic molecules. (mdpi.com)
Lastly, several mechanistic barriers limiting the lipid nanoparticle delivery of siRNA and mRNA are identified. (lu.se)

This large meta-analysis of lipid phenotypes with the use of a dense gene-centric approach identified multiple SNPs not previously described in established lipid genes and several previously unknown loci. (ox.ac.uk)

This is due to the fact that RGD peptides are naturally occurring molecules that are recognized by the body, and the lipid component of the delivery system is biocompatible and less harmful. (avantilipids.com)
RGD peptide-based lipids can be combined with other therapeutic agents, such as small molecules or antibodies, to enhance the therapeutic effect. (avantilipids.com)
Scientists at Tufts University and the Broad Institute of Harvard and MIT have developed unique nanoparticles comprised of lipids -- fat molecules -- that can package and deliver gene editing machinery specifically to the liver. (eurekalert.org)
Within peroxisomes, the DHAPAT enzyme is responsible for the first step in the production of lipid molecules called plasmalogens. (medlineplus.gov)
Using antisense technology, modified RNA molecules can combine with specific parts of the DNA, preventing the affected genes from functioning. (msdmanuals.com)
Bile salts aid in forming lipid micelles, which create a hydrophilic surface with a hydrophobic core of lipid molecules, including FFA. (medscape.com)

The lipids were also able to deliver mRNA encoding the CRISPR-Cas9 gene editing system and base editor BE3 to HeLa cells, resulting in efficient gene editing. (avantilipids.com)

We have previously reported a simple procedure for gene transfection mediated by cationic lipid vesicles for animal cells, in which a commercially available synthetic cationic surfactant, dimethyidioctadecyl ammonium bromide (DDAB), was used for making lipid vesicles. (elsevierpure.com)
The commonly used gene carrier liposomes and cationic polymers have limited their clinical application due to their respective disadvantages. (bvsalud.org)
Lipoplexes (LDs) have been prepared from DNA and positively charged vesicles composed of the helper lipid, dioleoyl L-α-phosphatidylethanolamine (DOPE) and either a dichain (DC) oxyethylated cationic lipid or their corresponding novel trichain (TC) counterpart. (brighton.ac.uk)

The aqueous core in NLCs is surrounded by a lipid bilayer and achieved high encapsulation efficiency, payload, and biostability [7]. (pharmafocusasia.com)
Small angle neutron scattering studies established however that there was a significant conformational re-arrangement of the lipid bilayer when in the form of a LD complex as opposed to the parent vesicles. (brighton.ac.uk)

The abnormal lipid metabolism is considered to be an important hallmark in the etiopathogenesis of psoriasis [ 21 - 23 ]. (hindawi.com)
A new genetic discovery adds weight to a theory that motor neuron degenerative diseases are caused by abnormal lipid (fat) processing pathways inside brain cells. (sflorg.com)
Background: Abnormal lipid-lipoprotein levels are associated with the risk of coronary heart disease (CHD), a major public health problem worldwide. (pitt.edu)

[ 1 , 2 ] Lipid substrates share a common structure, including a ceramide backbone (2- N -acyl-sphingosine), in which various sphingolipids are derived by substitution of hexoses, phosphorylcholine, or one or more sialic acid residues on terminal hydroxyl groups of the ceramide molecule. (medscape.com)

The challenge when altering the genetics of our cells, however, is how to do it safely, effectively, and specifically targeted to the gene, tissue and organ that needs treatment. (eurekalert.org)

The complex gene-environment interplay that contributes to interindividual variation in components of the lipid profile is also partially clarified. (nursingcenter.com)

In the present study, the method was applied for gene transfection into quail embryos. (elsevierpure.com)
CDG2-LHNPs with stability and high- transfection efficiency overcome the shortcomings of liposomes and polymers applied separately, and have great potential for gene drug delivery. (bvsalud.org)
The transfection efficacies of the TC lipids in the form of LDs were found to be higher than for the DC analogues, particularly when the third acyl chain was an octanoyl or oleoyl moeity. (brighton.ac.uk)
The large enhancement in transfection performance of the TC lipids can be attributed to their ability to complex their DNA payload. (brighton.ac.uk)

The correlation of paraoxonase (PON1) activity with lipid and lipoprotein levels differs with vascular disease status. (cdc.gov)

candidate genes in these models requires extensive breeding, which is highly time and resource consuming. (figshare.com)
Our meta-analysis of 32 studies in 66,240 individuals of European ancestry was based on the custom ∼50,000 SNP genotyping array (the ITMAT-Broad-CARe array) covering ∼2,000 candidate genes. (ox.ac.uk)

The defective enzyme leads to lipid product accumulation, resulting in dysfunction of cellular organelles with a common storage place being the lysosome. (medscape.com)
Impaired membrane traffic in defective ether lipid biosynthesis. (medlineplus.gov)
In harlequin ichthyosis, the ABCA12 -mediated transfer of lipid to lamellar granules is defective. (medscape.com)
This defective lipid "mortar" between corneocyte "bricks" results in aberrant skin permeability and lack of normal corneocyte desquamation. (medscape.com)

This thesis advances our understanding on the limiting step of endosomal escape and cytosolic entry of RNA during lipid-based delivery. (lu.se)

The production of foie gras involves different metabolic pathways in the liver of overfed ducks such as lipid synthesis and carbohydrates catabolism, but the establishment of these pathways has not yet been described with precision during embryogenesis. (biomedcentral.com)
Nanostructure Lipid Carrier (NLC) smartly delivers the miRNA in tumor gene therapy owing to their leisurely surface modification, low immunogenicity, low toxicity and long metabolic cycle. (pharmafocusasia.com)

This gene is found on chromosome 22 in humans. (wikipedia.org)

The gene that the researchers focused on codes for the angiopoietin-like 3 enzyme (Angptl3). (eurekalert.org)
The AMACR gene provides instructions for making an enzyme called alpha-methylacyl-CoA racemase (AMACR). (medlineplus.gov)
The GNPAT gene provides instructions for making an enzyme known as glyceronephosphate O-acyltransferase (GNPAT) or dihydroxyacetonephosphate acyltransferase (DHAPAT). (medlineplus.gov)
A team of Canadian physicians and researchers is believed to be the first in the world to have used gene therapy to treat a patient with Fabry disease, a rare inherited enzyme deficiency that can damage major organs and shorten lifespan. (news-medical.net)

In this study, they show that PCTPs can repress the activity of a nuclear receptor called PPARdelta, a gene regulator critical in burning fat, maintaining energy balance, and regulating fatty acid uptake. (anl.gov)
RGD peptide-based lipids can protect the mRNA from degradation and facilitate its uptake by cells. (avantilipids.com)
In addition, the RGD peptides on the surface of the lipids can bind to specific cell surface receptors, which can enhance the uptake of the mRNA by cells. (avantilipids.com)
For example, the lipid component of the delivery system can be modified to improve stability, increase circulation time, or enhance cellular uptake. (avantilipids.com)
Remarkably, they increase lipid uptake and M2 inflammatory macrophage infiltration in the primary tumors and metastasis to distant sites. (aacrjournals.org)

The CHKB gene is located on the q arm of chromosome 22 at position 13.3 and it spans 4,041 base pairs. (wikipedia.org)
The AMACR gene is found on chromosome 5 . (medlineplus.gov)
The GNPAT gene is found on chromosome 1 . (medlineplus.gov)
The underlying genetic abnormality in harlequin ichthyosis is a mutation in the lipid-transporter gene ABCA12 on chromosome 2. (medscape.com)

3. Decreasing exposure frequency (e.g., 3 to 2 d per wk) of moderate velocity intermittent SSC improves lipid peroxidation levels and muscle performance. (cdc.gov)
We found that the proband had higher levels of free radical-mediated lipid peroxidation products, such as 7 β -hydroxycholesterol, than the control subjects. (elsevierpure.com)
Treatment of the proband with Vitamin E ( α tocopherol acetate, 100 mg/day), a lipid-soluble antioxidant, for 2 years reduced lipid peroxidation product levels to those of control subjects. (elsevierpure.com)
Withdrawal of Vitamin E treatment for 7 months resulted in an increase in lipid peroxidation products. (elsevierpure.com)

In the tapetum, maximal expression of two marker genes for lipid biosynthesis (sad and ear) occurred at a bud length of 2-3 mm, and the corresponding gene products SAD and EAR were detected by Western blotting in 3-4 mm buds, coinciding with the maximal rates of tapetal lipid accumulation. (nih.gov)

Inheritance being multifactorial, genetic variants in multiple genes interact both with each other and with the environment [ 13 - 20 ]. (hindawi.com)

Using state-of-the-art microscopy methods, the Cambridge team's work showed that a subset of TMEM63C is localized at the interface between two critical cellular organelles, the endoplasmic reticulum and the mitochondria, a region of the cell required for lipid metabolism homeostasis and proposed by the Exeter team to be important for the development of MNDs. (sflorg.com)
From a mitochondrial cell biologist point of view, identification of TMEM63C as a new motor neuron degenerative disease gene and its importance to different organelle functions reinforce the idea that the capacity of different cellular compartments to communicate together, by exchanging lipids for example, is critical to ensure cellular homeostasis required to prevent disease," said Prudent. (sflorg.com)
Since liver sampling was only possible from the 12th day of embryogenesis (E12), we analyzed hepatic gene expression at 7 sampling points every 4 days from this point up to 4 days post-hatch (D4) and revealed different patterns of expression depending on the cellular pathway. (biomedcentral.com)
Absorption of lipid compounds into the enterocyte for biochemical usage occurs through diffusion across the cellular membrane and also through lipid transporters that are located on the luminal side of the enterocyte. (medscape.com)

miR-370 targets the 3' untranslated region (UTR) of Cpt1alpha, and it downregulated the expression of the carnitine palmitoyl transferase 1alpha (Cpt1alpha) gene as well as the rate of beta oxidation. (nih.gov)
In this study, we accessed NRF-1 and its target gene expression crucial in glucose transport and lipid oxidation during exercise. (nioh.ac.za)

Genome-wide association studies (GWASs) have identified many SNPs underlying variations in plasma-lipid levels. (ox.ac.uk)

To this end, a kinetic study was designed to determine the level of expression of selected genes involved in steatosis-related liver functions throughout embryogenesis. (biomedcentral.com)
Therefore, the aim of the present study was to analyze a wide range of genes involved in liver development, cell stress, lipid and carbohydrate metabolisms throughout embryogenesis in mule ducks to better understand the ontogeny of pathways related to liver fattening. (biomedcentral.com)
atherosclerosis-related genes in the liver. (figshare.com)
We just have to make sure we deliver the gene editing package specifically to the liver so as not to create unwanted side effects. (eurekalert.org)

Apolipoprotein E (APOE) gene variants have been reported to influence psoriasis risk. (hindawi.com)
At least two transcript variants encoding two different isoforms have been found for this gene, and one of the transcripts is bicistronic. (wikipedia.org)

Normal extrusion of lipid from these granules into the extracellular space cannot occur, and lipid lamellae are not formed. (medscape.com)

Using two-sample Mendelian randomisation, we found 52 mRNAs to have a causal effect on anthropometric traits (n=23) and lipid metabolism traits (n=10). (lu.se)
mRNAs in the MOD cluster showed a possible causal effect on anthropometric traits, lipid metabolism traits and blood cell fractions. (lu.se)
Together, our results show that individuals in the MOD cluster show aberrant RNA expression of genes that have a suggested causal role on multiple diabetes-relevant traits. (lu.se)

One pair stood out: lipid transporter PCTP and nuclear receptor PPARdelta. (anl.gov)

Recent advancements in messenger RNA (mRNA) technology have made it possible to directly introduce therapeutic genes into cells, but the efficacy of this approach is still limited by the delivery method. (avantilipids.com)
Researchers at the University of Pennsylvania have recently investigated the potential use of RGD peptide-conjugated lipids for targeted mRNA delivery and gene editing applications. (avantilipids.com)
The study found that the RGD peptide-conjugated lipids were able to efficiently deliver mRNA to specific cell types and achieve high levels of gene editing efficiency. (avantilipids.com)
The researchers used a luciferase reporter system to demonstrate the efficacy of the lipids in vitro , showing that they were able to deliver mRNA to HeLa cells with high specificity and efficiency. (avantilipids.com)
The lipids form a protective layer around the mRNA, allowing it to survive in the bloodstream for longer and increasing the chances of it being taken up by cells. (avantilipids.com)
This versatility allows for the development of lipids that can deliver mRNA to different types of cells and tissues, increasing the potential for the development of effective gene therapies. (avantilipids.com)
Relative mRNA expression was normalized to the Actin reference gene. (nioh.ac.za)

This pattern of expression coincided with accumulation of the intracellular storage and membrane lipid components of pollen. (nih.gov)

The complex solution of lipid vesicles and pmiwZ plasmid, a β-galactosidase expression vector under the control of β-actin promoter as a reporter, was injected into quail embryos at various developmental stages using a glass micropipette. (elsevierpure.com)

To that end, they conducted a large screen crossing lipid-sensing nuclear receptors and soluble lipid transporters. (anl.gov)

The condition is complex and can originate from multiple genes as well as nutritional and lifestyle choices, so it is not easy to treat. (eurekalert.org)

It is also consider as a promising candidate in tumor gene therapy due to essentially linked with biological machinery in performing vital role in cancer cell proliferation, apoptosis, metastasis as well as in drug resistance. (pharmafocusasia.com)
The brief critique outweighs the potential utility of smart NLC in therapeutic intervention based on gene therapy in tumor and future prospects. (pharmafocusasia.com)
The potential capability of NLCs to traverse across leaky vasculature and passively accumulated in neighboring tumor cells, and tissues (EPR effect) make them ideal candidate for tumor gene therapy. (pharmafocusasia.com)
Among the three categories of NLCs surface functionalized NLCs has been widely explored for nucleic acid delivery along with miRNA for tumor gene therapy owing to low immunogenicity, biocompatibility, high biodegradability etc and expected that has undimmed clinical feature ahead [7]. (pharmafocusasia.com)
Tumor stroma promotes tumor proliferation, invasion, and metastasis, but how stromal lipids influence these processes remain to be defined. (aacrjournals.org)
Our data support the concept that stromal cells contribute to prostate cancer aggressiveness by modulating lipid content and inflammation in the tumor microenvironment. (aacrjournals.org)
This study showed that stromal CAVIN1 suppresses prostate cancer metastasis by modulating tumor microenvironment, lipid content, and inflammatory response. (aacrjournals.org)
Tumor necrosis factor-alpha (TNF-alpha), a pivotal pro-inflammatory cytokine in RA may be involved in the development of the disturbed lipid metabolism. (researchgate.net)

It has been suggested that continuous separation of psoriatic scales caused the permanent loss of lipids which adversely affects lipid homeostasis. (hindawi.com)

Genetic alterations of CAV1N1 and CAV1 modify lipid metabolism and underpin lipodystrophy syndromes. (aacrjournals.org)

Because the in vitro potency of an LNP formulation rarely reflects its in vivo performance, they directly evaluated the delivery specificity and efficacy in mice that have a reporter gene in their cells that lights up red when genome editing occurs. (eurekalert.org)
In vitro studies have demonstrated normalization of lipid transport when the wild-type ABCA12 gene is transferred to keratinocytes of patients with harlequin ichthyosis. (medscape.com)

In entomophilous species, lipids are major products of both sporophytic and gametophytic metabolism during pollen development. (nih.gov)
The somewhat different distribution of nsLTP-encoding EST clones between the groups across cereal species imply that independent duplication(s) followed by subfunctionalization (and/or neofunctionalization) of the nsLTP gene family in each species occurred during speciation. (korea.ac.kr)
Advances in lipidomics allow identification of hundreds of lipid species from biological samples. (mdpi.com)

We show that depletion of CAVIN1 in prostate stromal cells markedly reduces their lipid droplet accumulation and increases inflammation. (aacrjournals.org)

The genomic distribution of the nsLTP genes in the rice genome differs from that in wheat. (korea.ac.kr)

Polymerase chain reaction (PCR) Genetic diagnostic technologies are scientific methods that are used to understand and evaluate an organism's genes. (msdmanuals.com)

Interestingly, carbohydrate-related genes appear to be highly expressed at the start of kinetics, while most lipid-related genes are overexpress after hatching, revealing greater sensitivity to the food transition that occurs at this stage. (biomedcentral.com)

Picogreen fluorescence and gel electrophoresis studies showed that the TC lipids containing a third acyl chain of at least C12 were most effective at complexing DNA while the TC lipids containing an octanoyl chain and the DC lipids were least effective. (brighton.ac.uk)

The genomic distribution pattern of nsLTP genes in the Poaceae family points to the existence of some differences among cereal nsLTP genes, all of which diverged from an ancient gene. (korea.ac.kr)

Researchers show how altering activity of the transcription factor CarD can cause downregulation and upregulation of some genes. (asbmb.org)

This ABCA12 -mediated lipid-transfer system is essential to the transfer of lipids from the cytosol of the corneocyte into lamellar granules. (medscape.com)

In particular, advanced high resolution microscopy techniques have been used to in detail characterize and determine the efficacy of lipid mediated delivery of RNA. (lu.se)

Lipid nanoparticles (SLNs and NLCs) are regarded as highly promising systems for delivering nucleic acids in gene therapy. (news-medical.net)

Now, the team has identified a further new gene - named TMEM63C - which causes a degenerative disease that affects the upper motor neuron cells in the nervous system. (sflorg.com)

Anatomy20

Organisms11

Diseases10

Chemicals and Drugs133

Analytical, Diagnostic and Therapeutic Techniques and Equipment30

Psychiatry and Psychology1

Phenomena and Processes54

Disciplines and Occupations1

Technology, Industry, Agriculture11

Information Science2

Health Care2

Involved in lipid metabolism3

Protein22

Membranes7

Proteins6

Metabolism genes3

Mutations14

Regulation9

Cholesterol15

Triglycerides4

Nanoparticles for gene1

Serum lipids2

Blood Lipids3

Plasma lipids2

Polymorphism5

Disorders11

Nanoparticle3

Phenotypes1

Molecules6

CRISPR-Cas91

Cationic3

Bilayer2

Abnormal lipid3

Substrates1

Genetics1

Interindividual variation1

Transfection4

Lipoprotein1

Candidate genes2

Defective4

Endosomal Escape1

Metabolic2

Humans1

Enzyme4

Uptake5

Chromosome4

Peroxidation4

Biosynthesis1

Genetic variants1

Cellular4

Oxidation2

SNPs1

Liver4

Variants2

Extracellular Space1

Traits3

Transporter1

MRNA7

Membrane1

Vesicles1

Transporters1

Multiple genes1

Tumor8

Homeostasis1

Syndromes1

Vitro2

Species3

Accumulation1

Genome1

Polymerase chain re1

Kinetics1

Acyl1

Genomic1

Downregulation1

Cytosol1

Microscopy1

Nucleic acids1

Affects1