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MYO5A
Unconventional myosin-Va is a motor protein in charge of the intracellular transport of vesicles, organelles and protein complexes along the actin filaments. In humans it is coded for by the ''MYO5A'' gene. Structure In the presence of cargo adapters and calcium, unconventional myosin Va is present in an elongated and active state. It has an N-terminal head domain and a C-terminal tail domain. The actin-binding head (N-Terminal) is an ATP-dependent motor domain that transmits changes from the active site to the light chain lever arm. The C-terminal globular domain (GB) decides the Myosin class and moderate the cargo transport. Also, the GB interacts with other cargo specific proteins. Myosin Va is highly expressed in neurons and melanocytes. Interactions MYO5A has been shown to interact with DYNLL1, RAB27A, DYNLL2, RPGRIP1L,Assis, L. H. P. et al. The molecular motor Myosin Va interacts with the cilia-centrosomal protein RPGRIP1L. Sci. Rep. 7, 43692; doi: 10.1038/srep43692 (201 ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
RAB27A
Ras-related protein Rab-27A is a protein that in humans is encoded by the ''RAB27A'' gene. Function The protein encoded by this gene belongs to the small GTPase superfamily, Rab family. The protein is membrane-bound and may be involved in protein transport and small GTPase mediated signal transduction. Mutations in this gene are associated with Griscelli syndrome type 2 and hemophagocytic lymphohistiocytosis. Alternative splicing occurs at this locus and four transcript variants encoding the same protein have been identified. The RAB27A gene is regulated by the Microphthalmia-associated transcription factor. Interactions RAB27A has been shown to interact with: * EXPH5, * MYO5A, * RPH3AL Rab effector Noc2 is a protein that in humans is encoded by the ''RPH3AL'' gene. Interactions RPH3AL has been shown to interact with RAB27A Ras-related protein Rab-27A is a protein that in humans is encoded by the ''RAB27A'' gene. Function ... * SYTL1, and * SYTL2. See also * ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Elejalde Syndrome
Elejalde syndrome or neuroectodermal melanolysosomal disease is an extremely rare autosomal recessive syndrome (only around 10 cases known) consisting of moderate pigment dilution, profound central nervous system dysfunction, no immune defects, and hair with a metallic silvery sheen.James, William; Berger, Timothy; Elston, Dirk (2005). ''Andrews' Diseases of the Skin: Clinical Dermatology''. (10th ed.). Saunders. . The changes to hair and skin pigmentation are associated with altered melanosome trafficking. It is associated with MYO5A. See also * Griscelli syndrome Griscelli syndrome is a rare autosomal recessive disorder characterized by albinism (hypopigmentation) with immunodeficiency, that usually causes death by early childhood. Researchers have developed three different classifications of the form of ... References External links Disturbances of human pigmentation Cytoskeletal defects Rare syndromes {{Cutaneous-condition-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
DYNLL1
Dynein light chain 1, cytoplasmic is a protein that in humans is encoded by the ''DYNLL1'' gene. Function Cytoplasmic dyneins are large enzyme complexes with a molecular mass of about 1,200 kD. They contain two force-producing heads formed primarily from dynein heavy chains, and stalks linking the heads to a basal domain, which contains a varying number of accessory intermediate chains. The complex is involved in intracellular transport and motility. The protein described in this record is a light chain and exists as part of this complex but also physically interacts with and inhibits the activity of neuronal nitric oxide synthase. Binding of this protein destabilizes the neuronal nitric oxide synthase dimer, a conformation necessary for activity, and it may regulate numerous biologic processes through its effects on nitric oxide synthase activity. Alternate transcriptional splice variants have been characterized. Interactions DYNLL1 has been shown to interact with: * BCL2L1 ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
DYNLL2
Dynein light chain 2, cytoplasmic is a protein that in humans is encoded by the ''DYNLL2'' gene. Interactions DYNLL2 has been shown to interact with DLG4, C12orf40, DLGAP1, MYO5A Unconventional myosin-Va is a motor protein in charge of the intracellular transport of vesicles, organelles and protein complexes along the actin filaments. In humans it is coded for by the ''MYO5A'' gene. Structure In the presence of cargo ada ... and BMF. References Further reading * * * * * * * * External links * * {{gene-17-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Griscelli Syndrome
Griscelli syndrome is a rare autosomal recessive disorder characterized by albinism (hypopigmentation) with immunodeficiency, that usually causes death by early childhood. Researchers have developed three different classifications of the form of disorder, characterised by different signs and symptoms. Type 1 Griscelli Syndrome is assosciated with severe brain function issues along with distinctive discolouring of the hair and skin. Type 2 Griscelli Syndrome have immune system abnormalities in addition to hypopigmentation of skin and hair. Finally, Type 3 is seen as those only affected by hypopigmentation of the skin and hair. This type is not associated with immune deficiencies or neurological abnormalities. Signs and symptoms Griscelli syndrome is defined by the characteristic hypopigmentation, with frequent pyogenic infection, enlargement of the liver and spleen, a low blood neutrophil level, low blood platelet level, and immunodeficiency. Very often there is also impaired nat ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Glucose Tolerance Test
The glucose tolerance test (GTT, not to be confused with GGT test) is a medical test in which glucose is given and blood samples taken afterward to determine how quickly it is cleared from the blood. The test is usually used to test for diabetes, insulin resistance, impaired beta cell function, and sometimes reactive hypoglycemia and acromegaly, or rarer disorders of carbohydrate metabolism. In the most commonly performed version of the test, an ''oral glucose tolerance test'' (OGTT), a standard dose of glucose is ingested by mouth and blood levels are checked two hours later. Many variations of the GTT have been devised over the years for various purposes, with different standard doses of glucose, different routes of administration, different intervals and durations of sampling, and various substances measured in addition to blood glucose. History The glucose tolerance test was first described in 1923 by Jerome W. Conn. The test was based on the previous work in 1913 by A. T. ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Open Field (animal Test)
Developed by Calvin S. Hall, the open field test is an experimental test used to assay general locomotor activity levels, anxiety, and willingness to explore in animals (usually rodents) in scientific research. However, the extent to which behavior in the open field measures anxiety is controversial. The open field test can be used to assess memory by evaluating the ability of the animal to recognize a stimuli or object. Another animal test that is used to assess memory using that same concept is the novel object recognition test. Concept Animals such as rats and mice display a natural aversion to brightly lit open areas. However, they also have a drive to explore a perceived threatening stimulus. Decreased levels of anxiety lead to increased exploratory behavior. Increased anxiety will result in less locomotion and a preference to stay close to the walls of the field (thigmotaxis). Experimental design The open field is an arena with walls to prevent escape. Commonly, the field ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hot Plate Test
The hot plate test is a test of the pain response in animals, similar to the tail flick test. Both hot plate and tail-flick methods are used generally for centrally acting analgesic, while peripherally acting drugs are ineffective in these tests but sensitive to acetic acid-induced writhing test. The hot plate test is used in basic pain research and in testing the effectiveness of analgesics by observing the reaction to pain caused by heat. It was proposed by Eddy and Leimbach in 1953. They used a behavioral model of nociception where behaviors such as jumping and hind paw-licking are elicited following a noxious thermal stimulus. Licking is a rapid response to painful thermal stimuli that is a direct indicator of nociceptive threshold. Jumping represents a more elaborated response, with a latency, and encompasses an emotional component of escaping. Procedure * A transparent glass cylinder is used to keep the animal on the heated surface of the plate. * The temperature of the ho ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Dysmorphology
Teratology is the study of abnormalities of physiological development in organisms during their life span. It is a sub-discipline in medical genetics which focuses on the classification of congenital abnormalities in Dysmorphic feature, dysmorphology. The related term developmental toxicity includes all manifestations of abnormal development that are caused by environmental insult (medical), insult. These may include growth retardation, delayed mental development or other congenital disorders without any structural malformations. Teratogens are substances that may cause birth defects via a toxic effect on an embryo or fetus. Known teratogens include: retinol, thalidomide, Mercury (element), mercury, Alcohol (drug), alcohol, lead, polychlorinated biphenyls (PCBs), and 2,3,7,8-tetrachlorodibenzodioxin. Etymology The term was borrowed in 1842 from the French , where it was formed in 1830 from the Greek language, Greek (word stem ), meaning "sign sent by the gods, portent, marv ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Indirect Calorimetry
Indirect calorimetry calculates heat that living organisms produce by measuring either their production of carbon dioxide and nitrogen waste (frequently ammonia in aquatic organisms, or urea in terrestrial ones), or from their consumption of oxygen. Indirect calorimetry estimates the type and rate of substrate utilization and energy metabolism in vivo starting from gas exchange measurements (oxygen consumption and carbon dioxide production during rest and steady-state exercise). This technique provides unique information, is noninvasive, and can be advantageously combined with other experimental methods to investigate numerous aspects of nutrient assimilation, thermogenesis, the energetics of physical exercise, and the pathogenesis of metabolic diseases.Ferrannini "The theoretical bases of indirect calorimetry: a review."Metabolism. 1988 Mar;37(3):287-301. Scientific background Indirect calorimetry measures O2 consumption and CO2 production. On the assumption that all the oxygen ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Motor Protein
Motor proteins are a class of molecular motors that can move along the cytoplasm of cells. They convert chemical energy into mechanical work by the hydrolysis of ATP. Flagellar rotation, however, is powered by a proton pump. Cellular functions Motor proteins are the driving force behind most active transport of proteins and vesicles in the cytoplasm. Kinesins and cytoplasmic dyneins play essential roles in intracellular transport such as axonal transport and in the formation of the spindle apparatus and the separation of the chromosomes during mitosis and meiosis. Axonemal dynein, found in cilia and flagella, is crucial to cell motility, for example in spermatozoa, and fluid transport, for example in trachea. The muscle protein myosin "motors" the contraction of muscle fibers in animals. Diseases associated with motor protein defects The importance of motor proteins in cells becomes evident when they fail to fulfill their function. For example, kinesin deficiencies have ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Auditory Brainstem Response
The auditory brainstem response (ABR), also called brainstem evoked response audiometry (BERA), is an auditory evoked potential extracted from ongoing electrical activity in the brain and recorded via electrodes placed on the scalp. The measured recording is a series of six to seven vertex positive waves of which I through V are evaluated. These waves, labeled with Roman numerals in ''Jewett'' and ''Williston'' convention, occur in the first 10 milliseconds after onset of an auditory stimulus. The ABR is considered an ''exogenous response'' because it is dependent upon external factors. The auditory structures that generate the auditory brainstem response are believed to be as follows: *Wave I through III – generated by the auditory branch of cranial nerve VIII and lower *Wave IV and V – generated by the upper brainstem *More in depth location – wave I and II originates from the distal and proximal auditory nerve fibers, wave III from the cochlear nucleus, IV showing acti ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
