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Valosin-containing Protein
Valosin-containing protein (VCP) or transitional endoplasmic reticulum ATPase (TER ATPase) also known as p97 in mammals and CDC48 in '' S. cerevisiae,'' is an enzyme that in humans is encoded by the ''VCP'' gene. The TER ATPase is an ATPase enzyme present in all eukaryotes and archaebacteria. Its main function is to segregate protein molecules from large cellular structures such as protein assemblies, organelle membranes and chromatin, and thus facilitate the degradation of released polypeptides by the multi-subunit protease proteasome. VCP/p97/CDC48 is a member of the AAA+ (extended family of ATPases associated with various cellular activities) ATPase family. Enzymes of this family are found in all species from bacteria to humans. Many of them are important chaperones that regulate folding or unfolding of substrate proteins. VCP is a type II AAA+ ATPase, which means that it contains two tandem ATPase domains (named D1 and D2, respectively) (Figure 1). The two ATPase domai ...
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CDC48 N-terminal Domain
In molecular biology, the CDC48 N-terminal domain is a protein domain found in AAA ATPases including cell division protein 48 (CDC48), VCP-like ATPase and N-ethylmaleimide sensitive fusion protein. It is a substrate recognition domain which binds polypeptides, prevents protein aggregation, and catalyses refolding of permissive substrates. It is composed of two equally sized subdomains. The amino-terminal subdomain (CDC48_N) forms a double-psi beta-barrel whose pseudo-twofold symmetry is mirrored by an internal sequence repeat of 42 residues. The carboxy-terminal subdomain (CDC48_2) forms a novel six-stranded beta-clam fold. Together these subdomains form a kidney-shaped structure, in close agreement with results from electron microscopy. CDC48_N is related to numerous proteins including prokaryotic transcription factors, metabolic enzymes, the protease cofactors UFD1 and PrlF, and aspartic proteinase Aspartic proteases (also "aspartyl proteases", "aspartic endopeptidases" ...
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Ubiquitin
Ubiquitin is a small (8.6  kDa) regulatory protein found in most tissues of eukaryotic organisms, i.e., it is found ''ubiquitously''. It was discovered in 1975 by Gideon Goldstein and further characterized throughout the late 1970s and 1980s. Four genes in the human genome code for ubiquitin: UBB, UBC, UBA52 and RPS27A. The addition of ubiquitin to a substrate protein is called ubiquitylation (or ubiquitination or ubiquitinylation). Ubiquitylation affects proteins in many ways: it can mark them for degradation via the 26S proteasome, alter their cellular location, affect their activity, and promote or prevent protein interactions. Ubiquitylation involves three main steps: activation, conjugation, and ligation, performed by ubiquitin-activating enzymes (E1s), ubiquitin-conjugating enzymes (E2s), and ubiquitin ligases (E3s), respectively. The result of this sequential cascade is to bind ubiquitin to lysine residues on the protein substrate via an isopeptide bond, ...
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Pleiotropy
Pleiotropy () is a condition in which a single gene or genetic variant influences multiple phenotypic traits. A gene that has such multiple effects is referred to as a ''pleiotropic gene''. Mutations in pleiotropic genes can impact several traits simultaneously, often because the gene product is used in various cell (biology), cells and affects different biological targets through shared signaling pathways. Pleiotropy can result from several distinct but potentially overlapping mechanisms, including gene pleiotropy, developmental biology, developmental pleiotropy, and selectional pleiotropy. Gene pleiotropy occurs when a gene product interacts with multiple proteins or catalyzes different reactions. Developmental pleiotropy refers to mutations that produce several phenotype, phenotypic effects during development. Selectional pleiotropy occurs when a single phenotype influences evolutionary fitness (biology), fitness in multiple ways (depending on factors such as age and sex). T ...
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Bryan J
Bryan may refer to: Places in the United States * Bryan, Arkansas, an unincorporated community * Bryan, Kentucky, an unincorporated community * Bryan, Ohio, a city * Bryan, Texas, a city * Bryan, Wyoming, a ghost town * Bryan County, Georgia * Bryan County, Oklahoma * Bryan Township (other) * Lake Bryan, Bryan Texas, a power plant cooling pond People * Bryan (given name), a list of people with this name * Bryan (surname), a list of people with this name * Daniel Bryan, ring name of American professional wrestler Bryan Danielson (born 1981) Schools * Bryan University, Tempe, Arizona, United States, a for-profit private university * Bryan College, Dayton, Tennessee, United States a private Christian college * Bryan High School (other) Other uses * Baron Bryan, a baronial title of Plantagenet England * Bryan Boulevard, Greensboro, North Carolina, United States, limited access highway * Bryan House (other) * Bryan Museum, Galveston, Texas, Un ...
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Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis (ALS), also known as motor neuron disease (MND) or—in the United States—Lou Gehrig's disease (LGD), is a rare, Terminal illness, terminal neurodegenerative disease, neurodegenerative disorder that results in the progressive loss of both upper and lower motor neurons that normally control Skeletal muscle, voluntary muscle contraction. ALS is the most common form of the motor neuron diseases. ALS often presents in its early stages with gradual muscle Spasticity, stiffness, Fasciculation, twitches, Muscle weakness, weakness, and Muscle atrophy, wasting. Motor neuron loss typically continues until the abilities to eat, speak, move, and, lastly, breathe are all lost. While only 15% of people with ALS also fully develop frontotemporal dementia, an estimated 50% face at least some minor difficulties with cognitive disorder, thinking and behavior. Depending on which of the aforementioned symptoms develops first, ALS is classified as ''limb-onset'' (b ...
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Paget's Disease Of Bone
Paget's disease of bone (commonly known as Paget's disease or, historically, osteitis deformans) is a condition involving Bone remodeling, cellular remodeling and deformity of one or more bones. The affected bones show signs of dysregulated bone remodeling at the microscopic level, specifically excessive Osteoclast, bone breakdown and subsequent disorganized new bone formation. These structural changes cause the bone to weaken, which may result in deformity, pain, bone fractures, fracture or arthritis of associated joints. The exact cause is unknown, although leading theories indicate both genetic and acquired factors (see #Causes, Causes). Paget's disease may affect any one or several bones of the body (most commonly pelvis, tibia, femur, lumbar vertebrae, and skull), but never the entire skeleton, and does not spread from bone to bone. Rarely, a bone affected by Paget's disease can transform into a Osteosarcoma, malignant bone cancer. As the disease often affects people diffe ...
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Hereditary Inclusion Body Myopathy
Hereditary inclusion body myopathies (HIBM) are a group of rare genetic disorders which have different symptoms. Generally, they are neuromuscular disorders characterized by muscle weakness developing in young adults. Hereditary inclusion body myopathies comprise both autosomal recessive and autosomal dominant muscle disorders that have a variable expression (phenotype) in individuals, but all share similar structural features in the muscles. HIBMs are a group of muscle wasting disorders that are uncommon in the general world population. One autosomal recessive form of HIBM is known as IBM2 or GNE myopathy, which is a common genetic disorder amongst people of Iranian Jewish descent. IBM2 has also been identified in other minorities throughout the world, including those of Asian, European, and South American, and Middle Eastern descent. In Japan and other East Asian countries, this disorder is known as distal myopathy with rimmed vacuoles (DMRV). IBM2 causes progressive muscle we ...
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Frontotemporal Dementia
Frontotemporal dementia (FTD), also called frontotemporal degeneration disease or frontotemporal neurocognitive disorder, encompasses several types of dementia involving the progressive degeneration of the brain's frontal lobe, frontal and temporal lobes. Men and women appear to be equally affected. FTD generally presents as a behavioral or language disorder with gradual onset. Signs and symptoms tend to appear in late adulthood, typically between the ages of 45 and 65, although it can affect people younger or older than this. There is currently no cure or approved symptomatic treatment for FTD, although some Off-label use, off-label drugs and behavioral methods are prescribed. Features of FTD were first described by Arnold Pick between 1892 and 1906. The name ''Pick's disease'' was coined in 1922. This term is now reserved only for the behavioral variant of FTD, in which characteristic Pick bodies and Pick cells are present. These were first described by Alois Alzheimer in 1911. ...
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Michelle R
Michelle may refer to: People *Michelle (name), a given name and surname, the feminine form of Michael * Michelle Courtens, Dutch singer, performing as "Michelle" * Michelle (German singer) * Michelle (Scottish singer) (born 1980), Scottish winner of ''Pop Idol'' in 2003 * Michel'le, American singer * Michelle (band), American band Arts, entertainment, and media Music * ''Michelle'' (album), a 1966 album by saxophonist Bud Shank * "Michelle" (song), a 1965 song by The Beatles * "Michèle" (song) by French singer Gérard Lenorman *"Michelle", a 2013 song by Beatallica from ''Abbey Load'' *"Michelle", a song from the Lynyrd Skynyrd compilation album ''Collectybles'' *"My Michelle", a 1987 song by Guns N' Roses *"A World Without You (Michelle)", a 1988 song by Bad Boys Blue Film * Michelle (Marvel Cinematic Universe), a fictional character of the Marvel Cinematic Universe Television * "Michelle" (''Skins'' series 1), a 2007 episode of the British teen drama ''Skins'' Science ...
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VCP Wiki Figure 3
VCP may refer to: Places *Van Cortlandt Park, New York City * Viracopos International Airport (IATA: VCP), near São Paulo, Brazil Organizations *Communist Party of Vietnam, also known as Vietnamese Communist Party *Verband Christlicher Pfadfinderinnen und Pfadfinder, a German Scouting association * United Communist Party (Netherlands) (''Verenigde Communistische Partij''), a communist party in the Netherlands *Victorian College of Pharmacy, at Monash University, Parkville, Victoria, Australia * Victory for Change Party, a political party in Liberia *Vienna Capital Partners, an independent corporate finance advisor and private equity investor * Votorantim Celulose e Papel, a former Brazilian manufacturer of paper products Science and technology *Valosin-containing protein, an ATPase enzyme * Verville VCP, a 1920 prototype US Army Air Corps fighter plane * Very Coarse Pottery, another name for briquetage *Videocassette player, a device which can play but not record videocasse ...
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Multisystem Proteinopathy
Multisystem proteinopathy (MSP) is a dominantly inherited, pleiotropic, degenerative disorder of humans that can affect muscle, bone, and/or the central nervous system. MSP can manifest clinically as classical amyotrophic lateral sclerosis (ALS), frontotemporal dementia (FTD), inclusion body myopathy (IBM), Paget's disease of bone (PDB), or as a combination of these disorders. Historically, several different names have been used to describe MSP, most commonly "inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (IBMPFD)" or "inclusion body myopathy with frontotemporal dementia, Paget's disease of bone, and amyotrophic lateral sclerosis (IBMPFD/ALS)." However, IBMPFD and IBMPFD/ALS are now considered outdated classifications and are more properly referred to as MSP, as the disease is clinically heterogeneous and its phenotypic spectrum extends beyond IBM, PDB, FTD, and ALS to include motor neuron disease, Parkinson's disease features, and ataxia featur ...
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VCP Wiki Figure 2
VCP may refer to: Places *Van Cortlandt Park, New York City * Viracopos International Airport (IATA: VCP), near São Paulo, Brazil Organizations *Communist Party of Vietnam, also known as Vietnamese Communist Party *Verband Christlicher Pfadfinderinnen und Pfadfinder, a German Scouting association * United Communist Party (Netherlands) (''Verenigde Communistische Partij''), a communist party in the Netherlands *Victorian College of Pharmacy, at Monash University, Parkville, Victoria, Australia * Victory for Change Party, a political party in Liberia *Vienna Capital Partners, an independent corporate finance advisor and private equity investor * Votorantim Celulose e Papel, a former Brazilian manufacturer of paper products Science and technology *Valosin-containing protein, an ATPase enzyme * Verville VCP, a 1920 prototype US Army Air Corps fighter plane * Very Coarse Pottery, another name for briquetage *Videocassette player, a device which can play but not record videocasse ...
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