SREBF1
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SREBF1
Sterol regulatory element-binding transcription factor 1 (SREBF1) also known as sterol regulatory element-binding protein 1 (SREBP-1) is a protein that in humans is encoded by the ''SREBF1'' gene. This gene is located within the Smith–Magenis syndrome region on chromosome 17. Two transcript variants encoding different isoforms have been found for this gene. The isoforms are SREBP-1a and SREBP-1c (the latter also called ADD-1). SREBP-1a is expressed in the intestine and spleen, whereas SREBP-1c is mainly expressed in liver, muscle, and fat (among other tissues). Expression The proteins encoded by this gene are transcription factors that bind to a sequence in the promoter of different genes, called sterol regulatory element-1 (SRE1). This element is a decamer (oligomer with ten subunits) flanking the LDL receptor gene and other genes involved in, for instance, sterol biosynthesis. The protein is synthesized as a precursor that is attached to the nuclear membrane and endoplas ...
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TWIST2
Twist-related protein 2 is a protein that in humans is encoded by the ''TWIST2'' gene. The protein encoded by this gene is a basic helix-loop-helix (bHLH) transcription factor and shares similarity with another bHLH transcription factor, TWIST1. bHLH transcription factors have been implicated in cell lineage determination and differentiation. It is thought that during osteoblast development, this protein may inhibit osteoblast maturation and maintain cells in a preosteoblast phenotype. Interactions TWIST2 has been shown to interact with SREBF1. Clinical significance Mutations in the ''TWIST2'' gene that alter DNA-binding activity through both dominant-negative and gain-of-function effects are associated with ablepharon macrostomia syndrome and Barber–Say syndrome Barber-Say syndrome (BSS) is a very rare congenital disorder associated with excessive hair growth (hypertrichosis), fragile (atrophic) skin, eyelid deformities (ectropion), and an overly broad mouth ( macrostomia). ...
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LMNA
Pre-lamin A/C or lamin A/C is a protein that in humans is encoded by the ''LMNA'' gene. Lamin A/C belongs to the lamin family of proteins. Function In the setting of ZMPSTE24 deficiency, the final step of lamin processing does not occur, resulting in an accumulation of farnesyl-prelamin A. In Hutchinson–Gilford progeria syndrome, a 50-amino acid deletion in prelamin A (amino acids 607–656) removes the site for the second endoproteolytic cleavage. Consequently, no mature lamin A is formed, and a farnesylated mutant prelamin A (progerin) accumulates in cells. The nuclear lamina consist of a two-dimensional matrix of proteins located next to the inner nuclear membrane. The lamin family of proteins make up the matrix and are highly conserved in evolution. During mitosis, the lamina matrix is reversibly disassembled as the lamin proteins are phosphorylated. Lamin proteins are thought to be involved in nuclear stability, chromatin structure and gene expression. Vertebrate lamin ...
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DAX1
DAX1 (dosage-sensitive sex reversal, adrenal hypoplasia critical region, on chromosome X, gene 1) is a nuclear receptor protein that in humans is encoded by the ''NR0B1'' gene (nuclear receptor subfamily 0, group B, member 1). The ''NR0B1'' gene is located on the short (p) arm of the X chromosome between bands Xp21.3 and Xp21.2, from base pair 30,082,120 to base pair 30,087,136. Function This gene encodes a protein that lacks the normal DNA-binding domain contained in other nuclear receptors. The encoded protein acts as a dominant-negative regulator of transcription of other nuclear receptors including steroidogenic factor 1. This protein also functions as an anti-testis gene by acting antagonistically to SRY. Mutations in this gene result in both X-linked congenital adrenal hypoplasia and hypogonadotropic hypogonadism. DAX1 plays an important role in the normal development of several hormone-producing tissues. These tissues include the adrenal glands above each kidney, the pi ...
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Glycolysis
Glycolysis is the metabolic pathway that converts glucose () into pyruvate (). The free energy released in this process is used to form the high-energy molecules adenosine triphosphate (ATP) and reduced nicotinamide adenine dinucleotide (NADH). Glycolysis is a sequence of ten reactions catalyzed by enzymes. Glycolysis is a metabolic pathway that does not require oxygen (In anaerobic conditions pyruvate is converted to lactic acid). The wide occurrence of glycolysis in other species indicates that it is an ancient metabolic pathway. Indeed, the reactions that make up glycolysis and its parallel pathway, the pentose phosphate pathway, occur in the oxygen-free conditions of the Archean oceans, also in the absence of enzymes, catalyzed by metal. In most organisms, glycolysis occurs in the liquid part of cells, the cytosol. The most common type of glycolysis is the ''Embden–Meyerhof–Parnas (EMP) pathway'', which was discovered by Gustav Embden, Otto Meyerhof, and Jakub Karol ...
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CREB-binding Protein
Cyclic adenosine monophosphate Response Element Binding protein Binding Protein (CREB-binding protein), also known as CREBBP or CBP or KAT3A, is a coactivator encoded by the ''CREBBP'' gene in humans, located on chromosome 16p13.3. CBP has intrinsic acetyltransferase functions; it is able to add acetyl groups to both transcription factors as well as histone lysines, the latter of which has been shown to alter chromatin structure making genes more accessible for transcription. This relatively unique acetyltransferase activity is also seen in another transcription enzyme, EP300 (p300). Together, they are known as the p300-CBP coactivator family and are known to associate with more than 16,000 genes in humans; however, while these proteins share many structural features, emerging evidence suggests that these two co-activators may promote transcription of genes with different biological functions. For example, CBP alone has been implicated in a wide variety of pathophysiologies inclu ...
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Protein–protein Interaction
Protein–protein interactions (PPIs) are physical contacts of high specificity established between two or more protein molecules as a result of biochemical events steered by interactions that include electrostatic forces, hydrogen bonding and the hydrophobic effect. Many are physical contacts with molecular associations between chains that occur in a cell or in a living organism in a specific biomolecular context. Proteins rarely act alone as their functions tend to be regulated. Many molecular processes within a cell are carried out by molecular machines that are built from numerous protein components organized by their PPIs. These physiological interactions make up the so-called interactomics of the organism, while aberrant PPIs are the basis of multiple aggregation-related diseases, such as Creutzfeldt–Jakob and Alzheimer's diseases. PPIs have been studied with many methods and from different perspectives: biochemistry, quantum chemistry, molecular dynamics, signal trans ...
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Current Pharmaceutical Design
''Current Pharmaceutical Design'' is a peer-reviewed medical journal which covers issues related to pharmacology and medicinal chemistry. Each issue is devoted to a single major therapeutic area. For each issue, an executive editor is chosen who is an acknowledged authority in that field. Abstracting and indexing ''Current Pharmaceutical Design'' is abstracted and indexed in: According to the ''Journal Citation Reports ''Journal Citation Reports'' (''JCR'') is an annual publicationby Clarivate Analytics (previously the intellectual property of Thomson Reuters). It has been integrated with the Web of Science and is accessed from the Web of Science-Core Collect ...'', the journal has a 2019 impact factor of 2.208. References External links * Publications established in 1995 Pharmacology journals English-language journals Bentham Science Publishers academic journals {{pharma-journal-stub ...
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Second Messenger System
Second messengers are intracellular signaling molecules released by the cell in response to exposure to extracellular signaling molecules—the first messengers. (Intercellular signals, a non-local form or cell signaling, encompassing both first messengers and second messengers, are classified as autocrine, juxtacrine, paracrine, and endocrine depending on the range of the signal.) Second messengers trigger physiological changes at cellular level such as proliferation, differentiation, migration, survival, apoptosis and depolarization. They are one of the triggers of intracellular signal transduction cascades. Examples of second messenger molecules include cyclic AMP, cyclic GMP, inositol triphosphate, diacylglycerol, and calcium. First messengers are extracellular factors, often hormones or neurotransmitters, such as epinephrine, growth hormone, and serotonin. Because peptide hormones and neurotransmitters typically are biochemically hydrophilic molecules, these first messenger ...
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Nutrients (journal)
''Nutrients'' is an open access peer-reviewed scientific journal publishing reviews, regular research papers, and short communications on all aspects of nutrition. It was established in 2009 and is published by MDPI. Until September 2018, the editor-in-chief was Jonathan Buckley of the University of South Australia. In 2018, Buckley and the other nine senior members of the editorial board resigned, claiming that MDPI "pressured them to accept manuscripts of mediocre quality and importance". The current Editors-in-Chief are Maria Luz Fernandez and Lluis Serra-Majem, who states that MDPI has "confirmed my absolute freedom to decide, basing only on the quality of papers." As of March 2022 the journal has an impact factor of 5.719. The journal is associated with the Nutrition Society of Australia, Nutrition Society of New Zealand, Spanish Nutrition Foundation, Spanish Nutrition Society and others. Abstracting and indexing The journal is abstracted and indexed in: According to the ''J ...
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Sirtuin 1
Sirtuin 1, also known as NAD-dependent deacetylase sirtuin-1, is a protein that in humans is encoded by the SIRT1 gene. SIRT1 stands for sirtuin (silent mating type information regulation 2 homolog) 1 (''S. cerevisiae''), referring to the fact that its sirtuin homolog (biological equivalent across species) in yeast ''(Saccharomyces cerevisiae)'' is Sir2. SIRT1 is an enzyme located primarily in the cell nucleus that deacetylates transcription factors that contribute to cellular regulation (reaction to stressors, longevity). Function Sirtuin 1 is a member of the sirtuin family of proteins, homologs of the Sir2 gene in ''S. cerevisiae''. Members of the sirtuin family are characterized by a sirtuin core domain and grouped into four classes. The functions of human sirtuins have not yet been determined; however, yeast sirtuin proteins are known to regulate epigenetic gene silencing and suppress recombination of rDNA. Studies suggest that the human sirtuins may function as intracel ...
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Steatosis
Steatosis, also called fatty change, is abnormal retention of fat (lipids) within a cell or organ. Steatosis most often affects the liver – the primary organ of lipid metabolism – where the condition is commonly referred to as fatty liver disease. Steatosis can also occur in other organs, including the kidneys, heart, and muscle. When the term is not further specified (as, for example, in 'cardiac steatosis'), it is assumed to refer to the liver. Risk factors associated with steatosis are varied, and may include diabetes mellitus, protein malnutrition, hypertension, cell toxins, obesity, anoxia, and sleep apnea. Steatosis reflects an impairment of the normal processes of synthesis and elimination of triglyceride fat. Excess lipid accumulates in vesicles that displace the cytoplasm. When the vesicles are large enough to distort the nucleus, the condition is known as macrovesicular steatosis; otherwise, the condition is known as microvesicular steatosis. While not particul ...
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Insulin Resistance
Insulin resistance (IR) is a pathological condition in which cell (biology), cells fail to respond normally to the hormone insulin. Insulin is a hormone that facilitates the transport of glucose from blood into cells, thereby reducing blood glucose (blood sugar). Insulin is released by the pancreas in response to carbohydrates consumed in the diet. In states of insulin resistance, the same amount of insulin does not have the same effect on glucose transport and blood sugar levels. There are many causes of insulin resistance and the underlying process is still not completely understood, but sulfate depletion may be the important factor. Risk factors for insulin resistance include obesity, sedentary lifestyle, family history of diabetes, various health conditions, and certain medications. Insulin resistance is considered a component of the metabolic syndrome. There are multiple ways to measure insulin resistance such as fasting insulin levels or glucose tolerance tests, but these are ...
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