ENPP1
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ENPP1
Ectonucleotide pyrophosphatase/phosphodiesterase family member 1 (PC-1, CD203a) is an enzyme that in humans is encoded by the ''ENPP1'' gene. Structure This gene is a member of the ecto-nucleotide pyrophosphatase/phosphodiesterase (ENPP) family. The encoded protein is a type II transmembrane glycoprotein comprising two identical disulfide-bonded subunits. Function ENPP1 has broad specificity and cleaves a variety of substrates, including phosphodiester bonds of nucleotides and nucleotide sugars. ENPP1 protein may function to hydrolyze nucleoside 5' triphosphates to their corresponding monophosphates and may also hydrolyze diadenosine polyphosphates. The main substrate of ENNP1 is adenosine triphosphate (ATP), which is cleaved into adenosine monophosphate (AMP) and diphosphate. Another notable nucleotide substrate is nicotinamide adenine dinucleotide (NAD+) which can be hydrolyzed to produce AMP. ADPR can also be hydrolyzed by ENNP1 to produce AMP. Clinical significance ...
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Generalized Arterial Calcification Of Infancy
Generalized arterial calcification of infancy (GACI) is an extremely rare genetic disorder. It is caused by mutations in the ENPP1 gene in 75% of the subjects or in mutations in the ABCC6  genes in 10% of patients. However, sometimes individuals affected with GACI do not have mutations in the ''ENPP1'' or ''ABCC6'' gene and in those cases the cause of the disorder is unknown. The condition usually affects infants during the first 6 months of life. This condition is inherited as an autosomal recessive pattern. It is characterized by generalized calcification of the arterial internal elastic lamina, leading to rupture of the lamina and occlusive changes in the tunica intima with stenosis and decreased elasticity of the vessel wall. Unfortunately, many infants die of vaso-occlusive disease, especially of the coronary arteries. There are 2 forms of GACI that can be indicated on a genetic test: GACI Type 1 is caused by mutations in the ''ENPP1'' gene. It is called ''ENPP1'' Deficienc ...
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Enzyme
Enzymes () are proteins that act as biological catalysts by accelerating chemical reactions. The molecules upon which enzymes may act are called substrates, and the enzyme converts the substrates into different molecules known as products. Almost all metabolic processes in the cell need enzyme catalysis in order to occur at rates fast enough to sustain life. Metabolic pathways depend upon enzymes to catalyze individual steps. The study of enzymes is called ''enzymology'' and the field of pseudoenzyme analysis recognizes that during evolution, some enzymes have lost the ability to carry out biological catalysis, which is often reflected in their amino acid sequences and unusual 'pseudocatalytic' properties. Enzymes are known to catalyze more than 5,000 biochemical reaction types. Other biocatalysts are catalytic RNA molecules, called ribozymes. Enzymes' specificity comes from their unique three-dimensional structures. Like all catalysts, enzymes increase the reaction ra ...
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Cyclic ADP-ribose
Cyclic ADP Ribose, frequently abbreviated as cADPR, is a cyclic adenine nucleotide (like cAMP) with two phosphate groups present on 5' OH of the adenosine (like ADP), further connected to another ribose at the 5' position, which, in turn, closes the cycle by glycosidic bonding to the nitrogen 1 (N1) of the same adenine base (whose position N9 has the glycosidic bond to the other ribose). The N1-glycosidic bond to adenine is what distinguishes cADPR from ADP-ribose (ADPR), the non-cyclic analog. cADPR is produced from nicotinamide adenine dinucleotide (NAD+) by ADP-ribosyl cyclases ( EC 3.2.2.5) as part of a second messenger system. Function cADPR is a cellular messenger for calcium signaling. It stimulates calcium-induced calcium release at lower cytosolic concentrations of Ca2+. The primary target of cADPR is the endoplasmic reticulum Ca2+ uptake mechanism. cADPR mobilizes Ca2+ from the endoplasmic reticulum by activation of ryanodine receptors, a critical step in muscle contracti ...
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International Journal Of Molecular Sciences
The ''International Journal of Molecular Sciences'' is a peer-reviewed open access scientific journal covering research in chemistry, molecular physics, and molecular biology. It is published by MDPI and was established in 2000. The editor-in-chief is Maurizio Battino (Marche Polytechnic University). Abstracting and indexing The journal is abstracted and indexed in: According to the ''Journal Citation Reports'', the journal has a 2021 impact factor The impact factor (IF) or journal impact factor (JIF) of an academic journal is a scientometric index calculated by Clarivate that reflects the yearly mean number of citations of articles published in the last two years in a given journal, as i ... of 6.208. References External links * Biochemistry journals Open access journals MDPI academic journals English-language journals Monthly journals Publications established in 2000 {{Biochemistry-journal-stub ...
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Annual Review Of Immunology
The ''Annual Review of Immunology'' is a peer-reviewed scientific journal published by Annual Reviews. It releases an annual volume of review articles relevant to the field of immunology. It was first published in 1983 with inaugural editor William E. Paul; Paul remained editor for the journal's first thirty years. As of 2022, its editor is Wayne M. Yokoyama and its 2021 impact factor is 32.481, ranking it third of 161 journals in the category "Immunology". History During the 1982 Midwinter Conference of Immunologists at the Asilomar Conference Grounds, a meeting of prominent immunologists was convened to discuss the need for a new journal that published review articles about immunological topics. Interest was high, with many meeting attendees agreeing that such a journal would be useful and offering to write a review for the first volume. The ''Annual Review of Immunology'' was first published in 1983, making it the twenty-fifth journal title published by the nonprofit publishe ...
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Immune System
The immune system is a network of biological processes that protects an organism from diseases. It detects and responds to a wide variety of pathogens, from viruses to parasitic worms, as well as cancer cells and objects such as wood splinters, distinguishing them from the organism's own healthy tissue. Many species have two major subsystems of the immune system. The innate immune system provides a preconfigured response to broad groups of situations and stimuli. The adaptive immune system provides a tailored response to each stimulus by learning to recognize molecules it has previously encountered. Both use molecules and cells to perform their functions. Nearly all organisms have some kind of immune system. Bacteria have a rudimentary immune system in the form of enzymes that protect against virus infections. Other basic immune mechanisms evolved in ancient plants and animals and remain in their modern descendants. These mechanisms include phagocytosis, antimicrobial pe ...
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Adenosine
Adenosine ( symbol A) is an organic compound that occurs widely in nature in the form of diverse derivatives. The molecule consists of an adenine attached to a ribose via a β-N9-glycosidic bond. Adenosine is one of the four nucleoside building blocks of RNA (and its derivative deoxyadenosine is a building block of DNA), which are essential for all life. Its derivatives include the energy carriers adenosine mono-, di-, and triphosphate, also known as AMP/ADP/ATP. Cyclic adenosine monophosphate (cAMP) is pervasive in signal transduction. Adenosine is used as an intravenous medication for some cardiac arrhythmias. Adenosyl (abbreviated Ado or 5'-dAdo) is the chemical group formed by removal of the 5′-hydroxy (OH) group. It is found in adenosylcobalamin (an active form of vitamin B12) and as a radical in radical SAM enzymes. Medical uses Supraventricular tachycardia In individuals with supraventricular tachycardia (SVT), adenosine is used to help identify and convert the rhyt ...
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Ossification Of The Posterior Longitudinal Ligament
Ossification of the posterior longitudinal ligament (OPLL) is a process of fibrosis, calcification, and ossification of the posterior longitudinal ligament of the spine, that may involve the spinal dura. Once considered a disorder unique to people of Asian heritage, it is now recognized as an uncommon disorder in a variety of patients with myelopathy. Causes The causes of OPLL are unknown. However, genetic and environmental factors appear to play a role in pathogenesis. OPLL may also be associated with diffuse idiopathic skeletal hyperostosis Diagnosis Myeolography, including post-myelographic CT is likely the most effective imaging study an accurate diagnosis. Treatment Surgical management options include extensive cervical laminectomy with or without an additional posterior arthrodesis Arthrodesis, also known as artificial ankylosis or syndesis, is the artificial induction of joint ossification between two bones by surgery. This is done to relieve intractable pain ...
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Hydrolyze
Hydrolysis (; ) is any chemical reaction in which a molecule of water breaks one or more chemical bonds. The term is used broadly for substitution, elimination, and solvation reactions in which water is the nucleophile. Biological hydrolysis is the cleavage of biomolecules where a water molecule is consumed to effect the separation of a larger molecule into component parts. When a carbohydrate is broken into its component sugar molecules by hydrolysis (e.g., sucrose being broken down into glucose and fructose), this is recognized as saccharification. Hydrolysis reactions can be the reverse of a condensation reaction in which two molecules join into a larger one and eject a water molecule. Thus hydrolysis adds water to break down, whereas condensation builds up by removing water. Types Usually hydrolysis is a chemical process in which a molecule of water is added to a substance. Sometimes this addition causes both the substance and water molecule to split into two parts. In s ...
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Gene
In biology, the word gene (from , ; "...Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a basic unit of heredity and the molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protein-coding genes and noncoding genes. During gene expression, the DNA is first copied into RNA. The RNA can be directly functional or be the intermediate template for a protein that performs a function. The transmission of genes to an organism's offspring is the basis of the inheritance of phenotypic traits. These genes make up different DNA sequences called genotypes. Genotypes along with environmental and developmental factors determine what the phenotypes will be. Most biological traits are under the influence of polygenes (many different genes) as well as gen ...
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Nicotinamide Adenine Dinucleotide
Nicotinamide adenine dinucleotide (NAD) is a coenzyme central to metabolism. Found in all living cells, NAD is called a dinucleotide because it consists of two nucleotides joined through their phosphate groups. One nucleotide contains an adenine nucleobase and the other nicotinamide. NAD exists in two forms: an oxidized and reduced form, abbreviated as NAD and NADH (H for hydrogen), respectively. In metabolism, nicotinamide adenine dinucleotide is involved in redox reactions, carrying electrons from one reaction to another. The cofactor is, therefore, found in two forms in cells: NAD is an oxidizing agent – it accepts electrons from other molecules and becomes reduced. This reaction, also with H+, forms NADH, which can then be used as a reducing agent to donate electrons. These electron transfer reactions are the main function of NAD. However, it is also used in other cellular processes, most notably as a substrate of enzymes in adding or removing chemical groups to ...
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MedChemComm
''MedChemComm'' (in full: ''Medicinal Chemistry Communications'') is a peer-reviewed scientific journal publishing original (primary) research and review articles on all aspects of medicinal chemistry, including drug discovery, pharmacology and pharmaceutical chemistry. Until December 2019, it was published monthly by the Royal Society of Chemistry in partnership with the European Federation for Medicinal Chemistry, of which it was the official journal. Authors can elect to have accepted articles published as open access. According to the ''Journal Citation Reports'', the journal has a 2014 impact factor of 2.495, ranking it 27th out of 59 journals in the category "Chemistry, Medicinal" and 163 out of 289 journals in the category "Biochemistry & Molecular Biology". The editor-in-chief An editor-in-chief (EIC), also known as lead editor or chief editor, is a publication's editorial leader who has final responsibility for its operations and policies. The highest-ranking editor ...
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