Gene encodes two proteins carrier lipids carrier proteins. Medical search. Frequent questions

One of our groundbreaking discoveries was the identification of founder mutations in the DYRK1B gene, underlying atherosclerosis, metabolic syndrome, and fatty liver disease. (yale.edu)
One of our recent groundbreaking discoveries was the identification of novel loss of function mutations in a gene encoding the pancreatic exocrine elastase Cela2a in patients with diabetes, CAD and MetS traits, including obesity, hypertension, hypertriglyceridemia, NAFLD (OMIM: AOMS4). (yale.edu)
HPS types 7, 8 and 9 are due to mutations in genes encoding subunits of BLOC-1, a complex required for the generation of tubular cargo carriers destined for melanosomes. (chop.edu)
HPS types 3, 5 and 6 are due to mutations in genes encoding subunits of BLOC-2, a complex that directs BLOC-1-dependent cargo carriers with melanosomes. (chop.edu)
To the our best of knowledge, this is the first study to report the existence of homozygous and heterozygous mutations at positions 554, 555 and 559 in exon 4 of SLC35A3 gene in Indian Holstein cattle. (researchgate.net)
However, it is surprising that no phenotypic effects were observed in the carrier bull, necessitating further studies to fully elucidate the effects of these novel homozygous mutations. (researchgate.net)
Mutations in the DOLK gene reduce the availability of dolichol, leading to proteins with abnormal sugar chains. (cdghub.com)
PSS localized to the extremities is termed acral PSS and usually caused by mutations in the TGM5 gene encoding transglutaminase 5 (although mutations in the CSTA gene, encoding cystatin A, have also been shown to be causative). (aad.org)
Generalized PSS can result from pathogenic variants in FLG2, encoding filaggrin 2 or from mutations in CDSN, usually associated with significant inflammatory manifestations. (aad.org)
4) PLACK syndrome is an autosomal recessive genodermatosis caused by pathogenic mutations in CAST, which encodes calpastatin, an endogenous specific inhibitor of calpain, a calcium-dependent cysteine protease. (aad.org)
PSS type1 (PSS1, OMIM 270300) is a rare autosomal recessive disorder caused by nonsense mutations or complete deletion of the CDSN gene encoding for CDSN. (aad.org)
Mutations in this gene cause sialic acid storage diseases, including infantile sialic acid storage disorder and and Salla disease, an adult form. (ubigene.us)
Scope includes mutations and abnormal protein expression. (cancerindex.org)
Mutations in the OCRL gene cause Lowe syndrome. (medlineplus.gov)
Some mutations in the OCRL gene prevent the production of any OCRL enzyme. (medlineplus.gov)
Other mutations reduce or eliminate the activity of the enzyme or prevent it from interacting with other proteins within the cell. (medlineplus.gov)
Other cases result from new mutations in the gene and occur in males with no history of the disorder in their family. (medlineplus.gov)
Mutations of the PTPN11 gene in therapy-related MDS and AML with rare balanced chromosome translocations. (lu.se)
Mutations of the PTPN11 and RAS genes in rhabdomyosarcoma and pediatric hematological malignancies. (lu.se)
We confirm that Brugada syndrome is the same entity as sudden night death, highly prevalent in Southeast Asian countries (Thailand, Philippines and Japan), both of which share mutations in the same gene: SCN5A. (bvsalud.org)

We have developed expertise in in vivo investigation of lipid and glucose metabolism, insulin secretion and sensitivity, and vascular biology and in human physiological studies, leading to discovery of attractive drug targets that have been either patented or being investigated for their utility in treatment of fatty liver disease and diabetes in 2 clinical trials in the outlier populations of Fars/Iran. (yale.edu)
To better understand its role in metabolism, Damcott and colleagues looked at gene sequences in Old Order Amish participants who had significant lipid abnormalities, and compared those analyses with those from 2,738 additional Amish patients. (medpagetoday.com)
They also found that patients with the homozygous genotype developed diabetes early in adulthood and had downregulation of PPAR-gamma-dependent genes that are responsible for adipogenesis and the maintenance of adipocyte function, which "alter[s] the regulation of pathways influencing adipogenesis, insulin sensitivity, and lipid metabolism," they wrote. (medpagetoday.com)
The CYS-3 transcription factor bound the promoters and regulated genes involved in sulfur metabolism. (escholarship.org)
During sulfur starvation, genes involved in nitrogen metabolism, such as amino acid and nucleic acid metabolic pathways, along with genes encoding proteases and nucleases that are necessary for scavenging nitrogen, were activated. (escholarship.org)
Sulfur starvation also caused changes in the expression of genes involved in carbohydrate metabolism, such as those encoding glycosyl hydrolases. (escholarship.org)
Along with genes involved in sulfur metabolism, this transcription factor regulated a number of uncharacterized transporter genes and genes involved in mitochondrial electron transfer. (escholarship.org)
Lipid metabolism is pivotal for the growth of apicomplexan parasites. (biomedcentral.com)
Transcriptional analysis of ACBP-deficient parasites revealed differentially expressed genes involved in a wide range of biological processes such as lipid metabolism, posttranslational modification, and membrane biogenesis. (biomedcentral.com)
This study provides a foundation for elucidating the molecular mechanism of lipid metabolism in N. caninum . (biomedcentral.com)
Lipids are crucial to the biology of all cells and organisms, acting not only as primary sources of energy but also as regulators of metabolism and growth, participating in various signaling networks [ 4 ]. (biomedcentral.com)
Our data suggests that TMEM106B is one of a growing list of major dementia risk genes that affect glial lipid metabolism. (biomedcentral.com)
This gene is highly expressed in organs involved in lipid metabolism, and may play a role in Zellweger syndrome, in which cells are deficient in peroxisomes and have impaired bile acid synthesis. (fn-test.com)
thus, there is an obvious need for an improved hepatocyte model to better understand how TM6SF2 impacts lipid metabolism.To address this need, we present an optimized protocol for the differentiation of inducible pluripotent stem cells (iPSCs) into hepatocyte-like cells (HLCs), created in collaboration with the Leong Lab. (columbia.edu)
We also demonstrate that HLCs express proteins essential for lipoprotein metabolism, secrete authentic VLDL particles, and respond to metabolic perturbations, supporting their value for modeling hepatosteatosis and VLDL metabolism in vitro. (columbia.edu)
To investigate the effect of TM6SF2 variant expression on hepatic lipid metabolism, we produced HLCs derived from 4 homozygous TM6SF2-carrier individuals (KK) and 4 age- and sex-matched unaffected siblings (EE). (columbia.edu)
After extensive confirmation of successful gene editing, we explore the effect of TM6SF2 on lipid metabolism in the edited iPSCs. (columbia.edu)
One of the primary core clock genes is CLOCK, which has a tight association with the energy metabolism status in various mechanisms. (healthcoach.clinic)
The CLOCK 3111and CYP12A genes have a powerful effect on metabolism and circadian rhythm. (healthcoach.clinic)
Applying this technique to AD we demonstrate differences in proteins involved in glucose metabolism and neuroinflammation that collectively have potential clinical diagnostic utility. (lu.se)

CYS-3 also directly regulated the expression of genes involved in mitochondrial electron transfer. (escholarship.org)
We hypothesized a HFD may affect expression of genes involved in mitochondrial function and biogenesis. (diabetesjournals.org)

Alternative splicing results in multiple transcript variants encoding distinct isoforms. (utsouthwestern.edu)
Alternative splicing of this gene produces multiple transcript variants, some encoding different isoforms. (fn-test.com)
PSS may be caused by disease-causing variants in multiple genes encoding proteins with crucial functions for cell-cell adhesion: structural proteins forming cell-cell adhesion points (desmosomes, corneodesmosomes) and inhibitors of epidermal proteases that control skin shedding. (rarediseases.org)
Alternative splicing, primarily at the 5' end, results in transcript variants encoding same or different isoforms, including a glutaredoxin-containing isoform that is predominantly expressed in testis. (cancerindex.org)
Carrier testing for at-risk family members and prenatal testing for at-risk pregnancies are possible once the pathogenic variants in a family are known. (nih.gov)
Pfizer and BioNTech have jointly developed five mRNA candidate vaccines, which encode variants of the spike protein antigen. (medicaltrend.org)
Modulating agents include human E3 ubiquitin ligases, antibodies thereto and variants thereof, as well as related proteins. (justia.com)
Overall, we have identified 730 pathogenic/likely pathogenic variants in 710 participants in 24 of the 32 genes on the panel. (cdc.gov)

Thus, these findings suggest PSAP may maintain dopaminergic lipid homeostasis, which is dysregulated in PD, and counteract experimental parkinsonism. (nature.com)
A deletion in the gene encoding hormone-sensitive lipase, a key enzyme for lipolysis, was associated with abnormalities in adipocyte function and systemic lipid and glucose homeostasis. (medpagetoday.com)
The findings "indicate the physiological significance of HSL in adipocyte function and the regulation of systemic lipid and glucose homeostasis, and underscore the severe metabolic consequences of impaired lipolysis," they wrote. (medpagetoday.com)
PIKfyve regulates endomembrane homeostasis and plays a role in the biogenesis of endosome carrier vesicles from early endosomes. (utsouthwestern.edu)
Our study demonstrates that TMEM106B protein abundance is increased with brain ageing in humans, establishes that dementia risk allele rs1990622-A predisposes to TMEM106B fibril formation in the hippocampus, and provides the first evidence that rs1990622-A affects brain lipid homeostasis, particularly myelin lipids. (biomedcentral.com)
Promote glucose and lipid homeostasis. (healthcoach.clinic)

Subsequent molecular and physiological studies in human mutation carriers and animal models have allowed us to unravel novel functions of the identified genes, to delineate their cognate pathways and to discover new targets for pharmaceutical intervention. (yale.edu)
the team and its collaborators have shown that the products of HPS-associated genes in skin melanocytes regulate two pathways of membrane protein transport from endosomes to newly forming melanosomes and a retrograde pathway from melanosomes. (chop.edu)
Before entering lipid synthesis pathways, different kinds of acyl-CoA transporters which acts as the major carrier of acyl-CoAs, such as fatty acid binding protein (FABP), sterol carrier protein 2 (SCP2) and acyl-CoA-binding protein (ACBP), would activate and convert fatty acids to fatty acyl-CoA esters via a reaction catalyzed by fatty acyl-CoA synthetase and transported to various metabolic locations [ 11 ]. (biomedcentral.com)
DOLK catalyzes the transfer of phosphate from cytidine triphosphate (CTP) to dolichol following biosynthesis of dolichol, generating dolichol phosphate (Dol-P). Dol-P is a lipid carrier of the oligosaccharide precursor in N-glycosylation and as a donor of glucose and mannose for several glycosylation pathways 1,2,8,12 . (cdghub.com)
Modulations in lipid A and phospholipid biosynthesis pathways influence outer membrane protein assembly in Escherichia coli K-12. (wikigenes.org)
Ubigene exclusive KO Cell Line Bank, over 5000 KO cell lines, covering thousands of genes from 8 popular signaling pathways and nearly 100 diseases. (ubigene.us)
What pathways are this gene/protein implicaed in? (cancerindex.org)

Pigment cell-specific transmembrane proteins SLC45A2 and OCA2 are a transporter and channel, respectively, that modulate melanosome pH at different stages of melanosome maturation and that are targets of mutation in different forms of oculocutaneous albinism. (chop.edu)

Dolichyl monophosphate is an essential glycosyl carrier lipid for C- and O-mannosylation and N-glycosylation of proteins and for biosynthesis of glycosylphosphatidylinositol anchors in endoplasmic reticulum (ER). (wikipedia.org)
The DOLK gene encodes dolichol phosphate (DOLK), an enzyme that catalyzes the transfer of a phosphate molecule onto dolichol following dolichol biosynthesis. (cdghub.com)
Biosynthesis of dolichol is one of the first steps in glycosylation , where dolichol acts as a lipid carrier for the oligosaccharide precursor in the early stages of N-glycosylation of proteins. (cdghub.com)
Dolichol is a lipid that can be found in the membrane of the ER and is important for glycosylation in two ways: it acts a lipid carrier for the 14-sugar oligosaccharide that is transferred onto nascent proteins during N-glycosylation and is a monosaccharide donor of mannose and glucose sugars for N-glycosylation, O- and C-mannosylation and GPI anchor biosynthesis (Figure 1) 8,13 . (cdghub.com)
Balanced biosynthesis of major membrane components through regulated degradation of the committed enzyme of lipid A biosynthesis by the AAA protease FtsH (HflB) in Escherichia coli. (wikigenes.org)
Isolation and characterization of the Neisseria meningitidis lpxD-fabZ-lpxA gene cluster involved in lipid A biosynthesis. (wikigenes.org)
In higher plants, FAD2 gene encodes the microsomal oleate Δ12-desaturase, one of the key enzymes essential for biosynthesis of polyunsaturated lipids that serve many important functions in plant development and stress responses. (researchsquare.com)

Damcott and colleagues noted that the findings were somewhat unusual because a defect in an enzyme critical for lipolysis would be expected to result in excess lipid storage, but the researchers observed the opposite, "providing evidence that HSL plays a key role in maintaining adipogenesis and adipocyte function. (medpagetoday.com)
The DOLK gene encodes the enzyme dolichol kinase (DOLK), which is also called DK1. (cdghub.com)
Once dolichol is generated, it must be phosphorylated by the enzyme dolichol kinase (DOLK), generating dolichol-phosphate (Dol-P) before it can be used as a lipid carrier or monosaccharide donor 8,12 . (cdghub.com)
The OCRL gene provides instructions for making an enzyme that helps modify fat (lipid) molecules called membrane phospholipids. (medlineplus.gov)
The spike protein binds to the receptor angiotensin converting enzyme 2 on the surface of its host cell. (medicaltrend.org)
88:7351, 1991) and it appears that each E2 enzyme can act with one or more E3 proteins (Nuber et al. (justia.com)

Sterol carrier protein-2 ( SCP-2) is an intracellular, small, basic protein domain that in vitro enhances the transfer of lipids between membranes. (slu.se)
This gene encodes two proteins: sterol carrier protein X (SCPx) and sterol carrier protein 2 (SCP2) , as a result of transcription initiation from 2 independently regulated promoters. (fn-test.com)

Our work involves population and family-based genetic studies, high throughput sequencing to identify disease genes, with a focus on coronary artery disease (CAD) and metabolic syndrome (MetS). (yale.edu)
Carrier screening is a term used to describe genetic testing that is performed on an individual who does not have any overt phenotype for a genetic disorder but may have one variant allele within a gene(s) associated with a diagnosis. (acog.org)
When an individual is found to be a carrier for a genetic condition, his or her relatives are at risk of carrying the same mutation. (acog.org)
If an individual is found to be a carrier for a specific condition, the patient's reproductive partner should be offered testing in order to receive informed genetic counseling about potential reproductive outcomes. (acog.org)
If both partners are found to be carriers of a genetic condition, genetic counseling should be offered. (acog.org)
What follows is a detailed discussion of some of the more common genetic conditions for which carrier screening is recommended in at least some segments of the population. (acog.org)
Information about genetic carrier screening should be provided to every pregnant woman. (acog.org)
Individuals with a positive family history of a genetic condition should be offered carrier screening for the specific condition and may benefit from genetic counseling. (acog.org)
A genetic mutation that blocks production of a protein critical for lipolysis appears to have a significant impact on metabolic health, researchers found. (medpagetoday.com)
A nonsynonymous, loss of function variant (rs58542926, E167K) located in the gene encoding TM6SF2 was identified in multiple genetic association studies as significantly correlating with increased risk for non-alcoholic fatty liver disease (NAFLD) and decreased risk for hyperlipidemia. (columbia.edu)
To date, genetic changes in several distinct genes have been reported to cause PSS. (rarediseases.org)
In our cells, genetic information encoded in DNA is transferred to messenger RNA (mRNA), which is used as a template for protein production. (scind.org)
Previously, we have designed genetic constructs that encode various recombinant derivatives of DT and proHB-EGF structural parts and domains. (org.ua)
The main objective of gene profiling is to improve athletic results by detecting genetic limitations or enhancing beneficial SNPs. (healthcoach.clinic)
Thus, the discovery of genomic regions and positional candidate genes (PCGs) for intestine length or weights and percentages of heart, liver, gizzard or lungs, is a first step for understanding their genetic architecture. (biomedcentral.com)
Recognition of a single-gene disorder as causal for a patient's 'multiple sclerosis-like' phenotype is critically important for accurate direction of patient management, and evokes broader genetic counselling implications for affected families. (medscape.com)
The Healthy Oregon Project (HOP) is a statewide effort that aims to build a large research repository and influence the health of Oregonians through providing no-cost genetic screening to participants for a next-generation sequencing 32-gene panel comprising genes related to inherited cancers and familial hypercholesterolemia. (cdc.gov)

This gene encodes a membrane transporter that exports free sialic acids that have been cleaved off of cell surface lipids and proteins from lysosomes. (ubigene.us)
LAMP-1 is a ~110 kDa type I transmembrane protein that is heavily glycosylated and widely expressed by cells primarily on the luminal surface of their lysosomes. (bdbiosciences.com)

[ 4 ] Protein hZIP4 transports zinc ions from the cell exterior or lumen of intracellular organelles into the cytoplasm, where it is available to other newly synthesized proteins. (medscape.com)
Evidence suggests that the SCPx protein is a peroxisome-associated thiolase that is involved in the oxidation of branched chain fatty acids, while the SCP2 protein is thought to be an intracellular lipid transfer protein. (fn-test.com)
2007). These proteins are important for the regulation of intracellular pH (pH i ) and play crucial roles in the epithelial absorption of HCO 3 - (e.g., in the renal proximal tubule) and secretion of HCO 3 - (e.g., in the pancreatic duct). (tcdb.org)
Rapid detection of intracellular SH2D1A protein in cytotoxic lymphocytes from patients with X-linked lymphoproliferative disease and their family members. (lu.se)

We have identified a cytosolic acyl-CoA binding protein, with highly conserved amino acid residues and a typical acyl-CoA binding domain in N. caninum . (biomedcentral.com)
This single-chain 535 amino acid long protein causes the symptoms of acute diphtheria infection. (org.ua)

The SLC30A2 gene encodes a zinc transporter, ZnT2. (medscape.com)
Additionally, CYS-3 directly activated the expression of a number of uncharacterized transporter genes, suggesting that regulation of sulfur import is an important aspect of regulation by CYS-3. (escholarship.org)
and lysosomal proteins, such as the transporter MFSD12, that impact melanogenesis indirectly. (chop.edu)
AE1 and NBCe1), and (iii) may provide sites for regulation of transporter function via protein kinase A phosphorylation (e.g. (tcdb.org)

In higher plants, the microsomal oleate Δ12 -desaturase (fatty acid desaturase 2, FAD2) is a hydrophobic endoplasmic reticulum protein, catalyzing the reaction from monounsaturated oleic acid (C18:1) to polyunsaturated linoleic acid (C18:2) by introducing a double bond between the 12th and 13th carbon atoms of C18:1 [1]. (researchsquare.com)
The eukaryotic guided entry of tail-anchored proteins (GET) pathway mediates the biogenesis of tail-anchored (TA) membrane proteins at the endoplasmic reticulum. (bvsalud.org)

We then proceed to characterize the identified genes in vivo and in vitro . (yale.edu)
The recombinant NcACBP protein was expressed to verify the binding activities of NcACBP in vitro , and the heterologous expression of NcACBP in Δacbp yeast in vivo . (biomedcentral.com)
The NcACBP recombinant protein was able to specifically bind acyl-CoA esters in vitro . (biomedcentral.com)
In vitro transcribed mRNA was considered unstable and challenging to deliver, requiring the development of sophisticated carrier lipid systems to encapsulate the mRNA. (scind.org)

Interestingly, the first genome-wide CRISPR interference/activation screens to discover susceptibility genes of oxidative stress in induced pluripotent stem cell (iPSC)-derived human neurons identified PSAP. (nature.com)

The increase in TMEM106B levels with ageing was specific to carriers of the rs1990622-A allele in the TMEM106B gene that increases risk for frontotemporal dementia, Alzheimer's disease, Parkinson's disease, and hippocampal sclerosis with ageing. (biomedcentral.com)
It expresses a synthetic OVA gene, a CpG-free allele of the ovalbumin (OVA) gene constructed by chemical synthesis. (invivogen.com)
Specific single nucleotide polymorphisms (SNP) in this gene show that C allele carriers have reported feeling fatigued in the morning and prefer having evening activities. (healthcoach.clinic)

Zinc stabilizes cell membranes by reducing free radicals and preventing lipid peroxidation. (medscape.com)
Phosphorylated derivatives of phosphatidylinositol (PtdIns) regulate cytoskeletal functions, membrane trafficking, and receptor signaling by recruiting protein complexes to cell- and endosomal-membranes. (utsouthwestern.edu)
The lab employs a variety of approaches to probe how BLOC-1 interacts with membranes and with other HPS-encoded protein complexes to better understand its mechanism of action. (chop.edu)
The lab is testing the role of lipid modifying enzymes in regulating the recruitment of BLOC-1 and BLOC-2 to membranes and in regulating the activity of other components of the membrane transport process. (chop.edu)
Lipids are the major structural elements of all biological membranes, serving as signaling molecules within and between cells. (biomedcentral.com)
The unique lipid composition of nerve membranes is particularly interesting because it contains, among other things, polyunsaturated lipids, such as docosahexaenoic acid, which the body only gets through the diet. (bvsalud.org)
The crucial role of lipids in neurological processes, especially in receptor-mediated cell signaling, is emphasized by the fact that in many neuropathological diseases there are significant deviations in the lipid composition of nerve membranes compared to healthy individuals. (bvsalud.org)
In this article, we focus on two major protein families: G-protein-coupled receptors (GPCRs) and receptor tyrosine kinases (RTKs) and discuss how lipids affect their function in neuronal membranes, elucidating the basic mechanisms underlying neuronal function and dysfunction. (bvsalud.org)

The characterization of this protein in vivo has shown that it widely expressed in different tissues and circulates in the blood, its levels rise after food intake in humans and stimulates insulin secretion and sensitivity and inhibits platelet aggregation. (yale.edu)
Characterization of three fimbrial genes, sefABC, of Salmonella enteritidis. (wikigenes.org)
We reported the molecular characterization of the cotton (Gossypium hirsutum) GhFAD2 gene family and the essential role of GhFAD2-3 in cotton anther development. (researchsquare.com)
Recent advances have been made in the of host factors, polymorphisms, and candidate genes associated characterization of the immune response to low-molecular- with occupational asthma may improve our understanding of weight agents. (cdc.gov)

Lipids play a diverse and critical role in cellular processes in all tissues. (bvsalud.org)
We found that TRIM13 mRNA and protein expression was reduced in NSCLC tissues and cell lines in comparison to paired non-cancerous tissues and a human normal bronchial epithelial cell line, respectively. (cancerindex.org)
As noted above, the AE or solute carrier 4 (SLC4) family includes 10 members (SLC4A1-5, SLC4A7-11), which are expressed in multiple tissues in the human body. (tcdb.org)
Circadian clocks that comprise clock genes are located in various tissues throughout our body. (healthcoach.clinic)

In humans dolichol kinase is encoded by the DOLK gene. (wikipedia.org)

In the cytosol, the Get3 chaperone captures the TA protein substrate and delivers it to the Get1/Get2 membrane protein complex (GET insertase), which then inserts the substrate via a membrane-embedded hydrophilic groove. (bvsalud.org)
The H4A3 monoclonal antibody specifically binds to CD107a which is also known as Lysosomal-associated membrane protein 1 (LAMP-1). (bdbiosciences.com)

The loss of NcACBP resulted in global changes in the expression of multiple genes. (biomedcentral.com)

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)
Understanding gene function and regulation requires rigorous testing in live cells and organisms. (cshlpress.com)
These include viral and nonviral methods of gene delivery, transgenic approaches, strategies for the regulation of transgene expression, and modification of the host response. (cshlpress.com)
These mechanisms highlight the importance of lipids in the regulation of membrane receptor activation and function. (bvsalud.org)

Lipid synthesis requires bulk carbon skeleton acyl-CoAs, the transport of which depends on the acyl-CoA binding protein (ACBP). (biomedcentral.com)
Fatty acids provide the acyl skeleton for lipid synthesis. (biomedcentral.com)
3R)-hydroxymyristol acyl carrier protein. (wikigenes.org)
In TM6SF2 KO iPSCs, we further show a reduction in the activities of Acyl-Coenzyme A: Cholesterol Acyltransferase 1 (ACAT1) and Phosphatidylserine Synthase 1 (PSS1), two enzymes that display optimal function when specifically localized to cholesterol enriched ER lipid raft-like domains. (columbia.edu)
The animal AE proteins consist of homodimeric complexes of integral membrane proteins that vary in size from about 900 amino acyl residues to about 1250 residues. (tcdb.org)

On the other hand, DT represents a very interesting molecular machine which allows using this protein in different bioengineering applications, such as ablation of certain cell types in transgenic mice, development of immunotoxins targeted for specific cell markers and also for delivery of certain proteins into the cytosol. (org.ua)

It is caused by a point mutation (G→T) at nucleotide position 559 of the gene, bovine solute carrier family 35 member 3 (SLC35A3). (researchgate.net)
bovine solute carrier family 35 membe r 3 (SLC35A3). (researchgate.net)

In a study of Old Order Amish patients, a mutation in the gene that encodes for hormone-sensitive lipase (HSL) was tied to dyslipidemia, hepatic steatosis, systemic insulin resistance, and diabetes, Coleen Damcott, PhD , of the University of Maryland School of Medicine in Baltimore, and colleagues reported online first in the New England Journal of Medicine . (medpagetoday.com)
For example, in Timothy Syndrome the mutation in the gene produces too much of the protein, in this case the L-type calcium channel Cav1.2. (epiphanyasd.com)

Here, we employ a chemo-proteomics approach with a bifunctional cholesterol probe and show that cholesterol is closely associated with the ZIKV structural protein prM. (bvsalud.org)
Their N-terminal hydrophilic domains may interact with cytoskeletal proteins and therefore play a cell structural role. (tcdb.org)

Furthermore, GSOs protected cells against GLU-induced apoptosis by reducing the expression of the mitochondrial apoptosis-associated Bcl-2 family effector proteins and protected cells from GLU-induced oxidative damage by increasing the nuclear translocation of Nrf2 and HO-1 expression. (sdbonline.org)
Six genes involved in oxidative phosphorylation (OXPHOS) decreased. (diabetesjournals.org)
Two recent microarray studies have shown that genes involved in oxidative phosphorylation (OXPHOS) exhibit reduced expression levels in the skeletal muscle of type 2 diabetic subjects and prediabetic subjects. (diabetesjournals.org)

The core fold of the GET insertase is conserved throughout eukaryotes, whilst thinning of the lipid bilayer occurs in the vicinity of the hydrophilic groove to presumably lower the energetic barrier of membrane insertion. (bvsalud.org)
The exact molecular mechanism of C-domain transport across the lipid bilayer is unknown but it is known that T-domain is strongly involved in this process. (org.ua)

Generally, the antigen encoded by vaccine mRNA is either the full-length spike protein or the receptor binding domain of the spike protein. (medicaltrend.org)
The two main drug candidates BNT162b1 and BNT162b2 use Acuitas Therapeutics' ionizable lipid ALC-0315 and nucleoside modified mRNA, in which all uridines are replaced by N1 methyl pseudouridine to enhance mRNA translation. (medicaltrend.org)
The vaccine uses the ionizable lipid SM-102 to prepare LNP, which encapsulates N1 methylpseudouridine-modified mRNA. (medicaltrend.org)
CureVac's candidate vaccine CVnCoV can be stored stably for 3 months at 5°C. CVnCoV uses ionizable lipids from Acuitas Therapeutics (probably ALC-0315) and unmodified mRNA encoding a full-length spike protein with two proline substitutes. (medicaltrend.org)

Given the pivotal role that lipoproteins play at the juncture of these two conditions, researchers hypothesize that the ER-membrane spanning TM6SF2 protein regulates the degree of lipidation of VLDL particles synthesized in the liver. (columbia.edu)

Nowadays, growing scientific interest to DT is associated with possibility of its use in medicine as a carrier protein in conjugate vaccines, a component of immunotoxin drugs, and in anticancer therapy. (org.ua)
Vitamin E scaffolds of pH-responsive lipid nanoparticles as DNA vaccines in cancer and protozoan infection. (invivogen.com)

Combined, these results suggest a mechanism whereby HFD downregulates genes necessary for OXPHOS and mitochondrial biogenesis. (diabetesjournals.org)
In addition to the cellular energy sensor AMP kinase, the peroxisome proliferator-activated receptor cofactors PGC1α ( 5 , 6 , 7 ) and possibly PGC1β ( 8 ) activate mitochondrial biogenesis and increase OXPHOS gene expression by increasing the transcription, translation, and activation of the transcription factors necessary for mitochondrial DNA (mtDNA) replication. (diabetesjournals.org)

In flowering plants, the anther cuticle and pollen wall are riched in lipids, mainly fatty acids and their derivatives [17, 18]. (researchsquare.com)

LLO) and the 14-sugar oligosaccharide is transferred onto asparagine (N) residues of newly synthesized proteins in the ER lumen. (cdghub.com)

1999). "Prediction of the coding sequences of unidentified human genes. (wikipedia.org)

A mutation in this gene causes decreased zinc secretion. (medscape.com)

Sequence similarity to proteins bearing onco-differentiation antigens. (bdbiosciences.com)
This sequence encodes the SARS-CoV-2 spike protein, with two proline substitutions, giving it a pre-fusion conformation. (medicaltrend.org)

Genes Chromosomes Cancer 2008(1): 26-33 [ PubMed abstract ]. (lu.se)
Genes Chromosomes Cancer 2007(6): 517-21 [ PubMed abstract ]. (lu.se)
Genes Chromosomes Cancer 2006(6): 583-91 [ PubMed abstract ]. (lu.se)

Our findings suggest that TM6SF2 may impact cholesterol localization within ER subdomains, which regulate expression levels of cholesterol synthesis genes and activities of ER lipid-raft associated enzymes. (columbia.edu)
Indeed, the downstream CLOCK-dependent reactions start with Napt, an encoding gene for restriction enzymes that control NAD+ concentration. (healthcoach.clinic)

During sulfur starvation, the transcription factor CYS-3 is responsible for upregulation of genes involved in sulfur uptake and assimilation. (escholarship.org)
Interestingly, RNA-seq revealed that G. haimaensis hosts responded to B. pettiboneaei parasitism through significant upregulation of protein and lipid anabolism related genes, and that this parasitism may enhance host mussel nutrient anabolism but inhibit the host's ability to absorb nutrients, thus potentially helping the parasite obtain nutrients from the host. (frontiersin.org)

In addition to being a lipid kinase, PIKfyve also has protein kinase activity. (utsouthwestern.edu)
In the poster section, Joanna Shisler (University of Illinois at Urbana-Champaign [UIUC], Urbana) reported that the modified virus, Ankara, activates nuclear factor κB through the mitogen-activated protein kinase, extracellular signal-regulated kinase (MEK)/extracellular signal-regulated kinase (ERK) pathway, possibly facilitating the host immune response. (cdc.gov)
In the poster section, Joanna Shisler (University of Illinois at Urbana-Champaign [UIUC], Urbana) reported that the modified virus, Ankara, activates nuclear factor κB through the mitogen-activated protein kinase, extracellular signal–regulated kinase (MEK)/extracellular signal–regulated kinase (ERK) pathway, possibly facilitating the host immune response. (cdc.gov)

They showed that PSAP loss triggers global lipid alterations and induces ferroptosis selectively in neurons 21 . (nature.com)
The study showed that the reduction in transport of large amino acids by the encoded SLC7A5 protein leads to neurons switching from metabolizing lipids instead of amino acids and higher levels of neuronal cell death. (genewhisperer.com)

HSD17B4, SCPX, HSDL2, and STOML1 encode fusion proteins with SCP-2 downstream of another protein domain, whereas C20orf79 encodes an unfused SCP-2. (slu.se)
We also used DNA affinity purification sequencing to identify the direct downstream targets of the transcription factor responsible for regulating genes involved in sulfur uptake and assimilation. (escholarship.org)
In this syndrome Nav1.8 is over expressed as a downstream consequence of a mutation in the TCF4 gene. (epiphanyasd.com)

one was SDHB in complex II and a mitochondrial carrier protein SLC25A12. (diabetesjournals.org)

We propose a model in which membrane-resident M facilitates cholesterol-supported lipid exchange during endosomal entry and, together with cholesterol, creates a platform promoting virion assembly. (bvsalud.org)
The protease induces a conformational change, exposes the fusion peptide of the spike protein and promotes fusion with the cell or endosomal membrane. (medicaltrend.org)

To improve our understanding of PSAP and PGRN in PD, we analyzed these proteins in SNc, cerebrospinal fluid (CSF), plasma, and leucocytes from PD patients and matched controls. (nature.com)
Targeted proteomics is an attractive means of quantifying novel proteins in cerebrospinal and other fluids, and has potential to help overcome this bottleneck in biomarker development. (lu.se)

The previous gene names were "stromal antigen 1, 2 and 3" based on the isolation of the first murine family member by an antibody raised against mouse stromal cell extracts (PMID: 9305759). (genewhisperer.com)
it can be used as a DNA vaccine carrier for antigen presentation, and as an immune-stimulative adjuvant [1]. (invivogen.com)
2015. A KALA-modified lipid nanoparticle containing CpG-free plasmid DNA as a potential DNA vaccine carrier for antigen presentation and as an immune-stimulative adjuvant. (invivogen.com)

Lipids can also act as pivotal pathogenetic factors that allow pathogens to escape immune responses, manipulate host processes, and develop disease [ 7 ]. (biomedcentral.com)
Most SARS-CoV-2 vaccine candidates produce an immune response to the spike protein on the surface of the virus. (medicaltrend.org)
NF-κB is a transcription factor that plays a pivotal role in the highly specific pattern of gene expression observed for immune, inflammatory and acute phase response genes, including interleukin 1, interleukin 8, tumor necrosis factor and certain cell adhesion molecules. (justia.com)

Members of both the SLC4 and SLC26 mammalian gene families encode Na + -independent Cl - -HCO3 - exchangers. (tcdb.org)
Typically, the elements required for replication and selection of the plasmid in E. coli and gene expression in mammalian cells are rich in CpG. (invivogen.com)

Humans have multiple PtdIns proteins that differ by the degree and position of phosphorylation of the inositol ring. (utsouthwestern.edu)
In humans, the AE family (also called the SLC4 family) is composed of 10 paralogous members, among which are the proteins that perform Na + -independent Cl-HCO 3 - exchange (e.g. (tcdb.org)

However, how virus protein-lipid interactions contribute to the viral life cycle remains unclear. (bvsalud.org)
A variety of extracellular stimuli including mitogens, cytokines, antigens, stress inducing agents, UV light and viral proteins initiate a signal transduction pathway that ultimately leads to NF-κB release and activation. (justia.com)
Inoculation with a high dose strains of LMP1 transgenic mice vide a powerful tool in mechanistic of EBV caused a B-cell lymphopro- were established that express LMP1 studies on the role of individual viral liferative disorder in these mice, under the control of the immunoglob- genes in cancer. (who.int)

The pediatrics article Niemann-Pick Disease may be of interest, as may Lysosomal Storage Disease and Lipid Storage Diseases. (medscape.com)

Carriers of the mutation had higher serum triglycerides, more hepatic fat, worse fasting insulin levels, and lower levels of HDL cholesterol, as well as nearly a twofold increased risk of type 2 diabetes compared with noncarriers, they reported ( P =0.02). (medpagetoday.com)

Most of our recombinant proteins are fluorescent derivatives of various DT and proHB-EGF. (org.ua)

They discovered a 19-base-pair frameshift deletion in exon 9 of LIPE in Amish with lipid abnormalities, a loss-of-function mutation that results in insufficiency of the HSL protein in heterozygous patients and complete absence of the protein in homozygous patients. (medpagetoday.com)
FUNCTION: [Summary is not available for the mouse gene. (utsouthwestern.edu)
The lipid composition of neuromembranes can significantly affect the function of receptors by regulating the physical properties of the membrane or by affecting specific interactions between receptors and lipids. (bvsalud.org)
In most gram-positive bacteria, this operon consists of five genes dltXABCD but the involvement of the first ORF ( dltX ) encoding a small protein of unknown function, has never been investigated. (frontiersin.org)
It is essential to consider that the coding gene CLOCK 3111 is an element involved in regulating the central clock function. (healthcoach.clinic)

Sulfur is an important nutrient source found in proteins, lipids, and electron carriers that are required for the survival of filamentous fungi such as Neurospora crassa. (escholarship.org)

Anatomy4

Organisms7

Diseases1

Chemicals and Drugs91

Analytical, Diagnostic and Therapeutic Techniques and Equipment21

Phenomena and Processes38

Disciplines and Occupations1

Technology, Industry, Agriculture5

Information Science3

Named Groups1

Health Care4

Mutations20

Metabolism20

Expression of genes involved in mitochondr2

Variants8

Homeostasis6

Pathways7

Transmembrane proteins1

Biosynthesis7

Enzyme6

Sterol carrier2

Genetic17

Lysosomes2

Intracellular4

Amino acid2

Transporter4

Endoplasmic reticulum2

Vitro4

Induced plur1

Allele3

Membranes8

Characterization4

Tissues4

Dolichol kinase1

Membrane protein2

Multiple genes1

Regulation4

Acyl5

Cytosol1

Solute carrie2

Mutation in the gene2

Structural2

Oxidative3

Bilayer2

MRNA4

Regulates1

Vaccines2

Biogenesis2

Fatty acids1

Residues1

Human genes1

Secretion1

Sequence2

ABSTRACT3

Enzymes2

Upregulation2

Kinase3

Neurons2

Downstream3

Mitochondrial1

Endosomal2

Cerebrospinal2

Antigen3

Immune3

Mammalian2

Humans2

Viral3

Diseases1

Hepatic1

Recombinant1

Function5

Electron1