MECR
Trans-2-enoyl-CoA reductase, mitochondrial is an enzyme that in humans is encoded by the ''MECR'' gene. Structure The ''MECR'' gene is located on the 1st chromosome, with its specific location being 1p35.3. The gene contains 15 exons. ''MECR'' encodes a 21.2 kDa protein that is composed of 189 amino acids; 10 peptides have been observed through mass spectrometry data.] Function The protein encoded by ''MECR'' is an oxidoreductase that catalyzes the last step in mitochondrial fatty acid synthesis (mtFAS). MECR reduces trans-2-enoyl- ACP to acyl-ACP using NADPH as a reducing agent. The resulting saturated acyl-ACP can then re-enter the mtFAS cycle for further chain elongation. The reaction can be summarized by the following equation: trans-2-enoyl-ACP + NADPH + H+ → Acyl-ACP + NADP+ The mtFAS pathway is essential for producing octanoyl- ACP that is used to synthesize lipoic acid, which is essential for aerobic metabolism. A Purkinje cell specific knock out of the ''M ... [...More Info...]       [...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]   |
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Mitochondrial Fatty Acid Synthesis (mtFAS) Pathway
In biochemistry, fatty acid synthesis is the creation of fatty acids from acetyl-CoA and NADPH through the action of enzymes. Two '' de novo'' fatty acid syntheses can be distinguished: cytosolic fatty acid synthesis (FAS/FASI) and mitochondrial fatty acid synthesis (mtFAS/mtFASII). Most of the acetyl-CoA which is converted into fatty acids is derived from carbohydrates via the glycolytic pathway. The glycolytic pathway also provides the glycerol with which three fatty acids can combine (by means of ester bonds) to form triglycerides (also known as "triacylglycerols" – to distinguish them from fatty "acids" – or simply as "fat"), the final product of the lipogenic process. When only two fatty acids combine with glycerol and the third alcohol group is phosphorylated with a group such as phosphatidylcholine, a phospholipid is formed. Phospholipids form the bulk of the lipid bilayers that make up cell membranes and surrounds the organelles within the cells (such as the cell nuc ... [...More Info...]       [...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]   |
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ACSF3
Acyl-CoA synthetase family member 3 is an enzyme that in humans is encoded by the ''ACSF3'' gene. The enzyme belongs to the Acyl-CoA synthetase, acyl-CoA synthetase family. Structure The ''ACSF3'' gene is located on the Chromosome 16, 16th chromosome, with its specific location being 16q24.3. The gene contains 17 Exon, exons. ''ACSF3'' encodes a 64.1 kDa protein that is composed of 576 Amino acid, amino acids; 20 Peptide, peptides have been observed through mass spectrometry data. Function This gene encodes a member of the Acyl-CoA synthetase, acyl-CoA synthetase family of enzymes that activate fatty acids by catalyzing the formation of a thioester linkage between Fatty acid, fatty acids and coenzyme A. The encoded protein is localized to mitochondria, has high specificity for Malonic acid, malonate and Methylmalonic acid, methylmalonate and possesses Malonate—CoA ligase, malonyl-CoA synthetase activity: :Adenosine triphosphate, ATP + Malonic acid, malonate + Coenzyme A, ... [...More Info...]       [...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]   |
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Chromosome 1
Chromosome 1 is the designation for the largest human chromosome. Humans have two copies of chromosome 1, as they do with all of the autosomes, which are the non-sex chromosomes. Chromosome 1 spans about 249 million nucleotide base pairs, which are the basic units of information for DNA.http://vega.sanger.ac.uk/Homo_sapiens/mapview?chr=1 Chromosome size and number of genes derived from this database, retrieved 2012-03-11. It represents about 8% of the total DNA in human cells. It was the last completed chromosome, sequenced two decades after the beginning of the Human Genome Project. Genes Number of genes The following are some of the gene count estimates of human chromosome 1. Because researchers use different approaches to genome annotation their predictions of the number of genes on each chromosome varies (for technical details, see gene prediction). Among various projects, the collaborative consensus coding sequence project ( CCDS) takes an extremely conservative strategy. S ... [...More Info...]       [...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]   |
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Octanoyl
Caprylic acid (), also known under the systematic name octanoic acid or C8 Acid, is a saturated fatty acid, medium-chain fatty acid (MCFA). It has the structural formula , and is a colorless oily liquid that is minimally soluble in water with a slightly unpleasant rancid-like smell and taste. Salts and esters of octanoic acid are known as octanoates or caprylates. The name of the related acyl group is octanoyl, capryloyl, or caprylyl. It is a common industrial chemical, which is produced by oxidation of the C8 aldehyde. Its compounds are found naturally in the milk of various mammals and as a minor constituent of coconut oil and palm kernel oil. Two other acids are named after goats via the Latin word '' capra'': caproic acid (C6) and capric acid (C10). Together, these three fatty acids comprise 15% of the fatty acids in goat milk fat. Metabolism Octanoyl-ACP One of the products of the mitochondrial fatty acid synthesis (mtFAS) pathway is octanoic acid bound to acyl carri ... [...More Info...]       [...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]   |
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Magnetic Resonance Imaging
Magnetic resonance imaging (MRI) is a medical imaging technique used in radiology to generate pictures of the anatomy and the physiological processes inside the body. MRI scanners use strong magnetic fields, magnetic field gradients, and radio waves to form images of the organs in the body. MRI does not involve X-rays or the use of ionizing radiation, which distinguishes it from computed tomography (CT) and positron emission tomography (PET) scans. MRI is a medical application of nuclear magnetic resonance (NMR) which can also be used for imaging in other NMR applications, such as NMR spectroscopy. MRI is widely used in hospitals and clinics for medical diagnosis, staging and follow-up of disease. Compared to CT, MRI provides better contrast in images of soft tissues, e.g. in the brain or abdomen. However, it may be perceived as less comfortable by patients, due to the usually longer and louder measurements with the subject in a long, confining tube, although ... [...More Info...]       [...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]   |
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Basal Ganglia
The basal ganglia (BG) or basal nuclei are a group of subcortical Nucleus (neuroanatomy), nuclei found in the brains of vertebrates. In humans and other primates, differences exist, primarily in the division of the globus pallidus into external and internal regions, and in the division of the striatum. Positioned at the base of the forebrain and the top of the midbrain, they have strong connections with the cerebral cortex, thalamus, brainstem and other brain areas. The basal ganglia are associated with a variety of functions, including regulating voluntary motor control, motor movements, procedural memory, procedural learning, habituation, habit formation, conditional learning, eye movements, cognition, and emotion. The main functional components of the basal ganglia include the striatum, consisting of both the dorsal striatum (caudate nucleus and putamen) and the ventral striatum (nucleus accumbens and olfactory tubercle), the globus pallidus, the ventral pallidum, the substa ... [...More Info...]       [...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]   |
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Optic Atrophy
Optic neuropathy is damage to the optic nerve from any cause. The optic nerve is a bundle of millions of fibers in the retina that sends visual signals to the brain. Damage and death of these nerve cells, or neurons, leads to characteristic features of optic neuropathy. The main symptom is loss of vision, with colors appearing subtly washed out in the affected eye. A pale disc is characteristic of long-standing optic neuropathy. In many cases, only one eye is affected and a person may not be aware of the loss of color vision until the examiner asks them to cover the healthy eye. Optic neuropathy is often called optic atrophy, to describe the loss of some or most of the fibers of the optic nerve. Signs and symptoms The main symptom is loss of vision, with colors appearing subtly washed out in the affected eye. In many cases, only one eye is affected and the person may not be aware of the loss of color vision until the examiner asks them to cover the healthy eye. People may also ... [...More Info...]       [...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]   |
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Dystonia
Dystonia is a neurology, neurological Hyperkinesia, hyperkinetic Movement disorders, movement disorder in which sustained or repetitive muscle contractions occur involuntarily, resulting in twisting and repetitive movements or abnormal fixed postures. The movements may resemble a tremor. Dystonia is often intensified or exacerbated by physical activity, and symptoms may progress into adjacent muscles. The disorder may be Heredity, hereditary or caused by other factors such as birth trauma (physical), birth-related or other Injury, physical trauma, infection, poisoning (e.g., lead poisoning) or reaction to Medication, pharmaceutical drugs, particularly Antipsychotic, neuroleptics, or stress. Treatment must be highly customized to the needs of the individual and may include oral medications, chemodenervation Botulinum toxin, botulinum neurotoxin injections, physical therapy, or other supportive therapies, and surgical procedures such as deep brain stimulation. Classification The ... [...More Info...]       [...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]   |
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Neurodegeneration
A neurodegenerative disease is caused by the progressive loss of neurons, in the process known as neurodegeneration. Neuronal damage may also ultimately result in their cell death, death. Neurodegenerative diseases include amyotrophic lateral sclerosis, multiple sclerosis, Parkinson's disease, Alzheimer's disease, Huntington's disease, multiple system atrophy, Tauopathy, tauopathies, and prion diseases. Neurodegeneration can be found in the brain at many different levels of neuronal circuitry, ranging from molecular to systemic. Because there is no known way to reverse the progressive degeneration of neurons, these diseases are considered to be incurable; however research has shown that the two major contributing factors to neurodegeneration are oxidative stress and inflammation. Biomedical research has revealed many similarities between these diseases at the subcellular level, including atypical protein assemblies (like proteinopathy) and induced cell death. These similarities su ... [...More Info...]       [...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]   |
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Gene Knockout
Gene knockouts (also known as gene deletion or gene inactivation) are a widely used genetic engineering technique that involves the gene targeting, targeted removal or inactivation of a specific gene within an organism's genome. This can be done through a variety of methods, including homologous recombination, CRISPR gene editing, CRISPR-Cas9, and transcription activator-like effector nuclease, TALENs. One of the main advantages of gene knockouts is that they allow researchers to study the function of a specific gene in vivo, and to understand the role of the gene in normal development and physiology as well as in the pathology of diseases. By studying the phenotype of the organism with the knocked out gene, researchers can gain insights into the biological processes that the gene is involved in. There are two main types of gene knockouts: complete and conditional. A complete gene knockout permanently inactivates the gene, while a conditional gene knockout allows for the gene to b ... [...More Info...]       [...Related Items...]     OR:     [Wikipedia]   [Google]   [Baidu]   |