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Spastin
The human gene SPAST codes for the microtubule-severing protein of the same name, commonly known as spastin. This gene encodes a member of the AAA (ATPases associated with a variety of cellular activities) protein family. Members of this protein family share an ATPase domain and have roles in diverse cellular processes including membrane trafficking, intracellular motility, organelle biogenesis, protein folding, and proteolysis. The encoded ATPase may be involved in the assembly or function of nuclear protein complexes. Two transcript variants encoding distinct isoforms have been identified for this gene. Other alternative splice variants have been described but their full length sequences have not been determined. Mutations associated with this gene cause the most frequent form of autosomal dominant spastic paraplegia 4. See also Spastic paraplegia Hereditary spastic paraplegia (HSP) is a group of inherited diseases whose main feature is a progressive gait disorder. The disease ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Spastic Paraplegia
Hereditary spastic paraplegia (HSP) is a group of inherited diseases whose main feature is a progressive gait disorder. The disease presents with progressive stiffness (spasticity) and contraction in the lower limbs. HSP is also known as hereditary spastic paraparesis, familial spastic paraplegia, French settlement disease, Strumpell disease, or Strumpell-Lorrain disease. The symptoms are a result of dysfunction of long axons in the spinal cord. The affected cells are the primary motor neurons; therefore, the disease is an upper motor neuron disease. HSP is not a form of cerebral palsy even though it physically may appear and behave much the same as spastic diplegia. The origin of HSP is different from cerebral palsy. Despite this, some of the same anti-spasticity medications used in spastic cerebral palsy are sometimes used to treat HSP symptoms. HSP is caused by defects in transport of proteins, structural proteins, cell-maintaining proteins, lipids, and other substances th ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Microtubule
Microtubules are polymers of tubulin that form part of the cytoskeleton and provide structure and shape to eukaryotic cells. Microtubules can be as long as 50 micrometres, as wide as 23 to 27 nm and have an inner diameter between 11 and 15 nm. They are formed by the polymerization of a dimer of two globular proteins, alpha and beta tubulin into protofilaments that can then associate laterally to form a hollow tube, the microtubule. The most common form of a microtubule consists of 13 protofilaments in the tubular arrangement. Microtubules play an important role in a number of cellular processes. They are involved in maintaining the structure of the cell and, together with microfilaments and intermediate filaments, they form the cytoskeleton. They also make up the internal structure of cilia and flagella. They provide platforms for intracellular transport and are involved in a variety of cellular processes, including the movement of secretory vesicles, organell ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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 ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, responding to stimuli, providing structure to cells and organisms, and transporting molecules from one location to another. Proteins differ from one another primarily in their sequence of amino acids, which is dictated by the nucleotide sequence of their genes, and which usually results in protein folding into a specific 3D structure that determines its activity. A linear chain of amino acid residues is called a polypeptide. A protein contains at least one long polypeptide. Short polypeptides, containing less than 20–30 residues, are rarely considered to be proteins and are commonly called peptides. The individual amino acid residues are bonded together by peptide bonds and adjacent amino acid residues. The sequence of amino acid residue ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Nature (journal)
''Nature'' is a British weekly scientific journal founded and based in London, England. As a multidisciplinary publication, ''Nature'' features peer-reviewed research from a variety of academic disciplines, mainly in science and technology. It has core editorial offices across the United States, continental Europe, and Asia under the international scientific publishing company Springer Nature. ''Nature'' was one of the world's most cited scientific journals by the Science Edition of the 2019 ''Journal Citation Reports'' (with an ascribed impact factor of 42.778), making it one of the world's most-read and most prestigious academic journals. , it claimed an online readership of about three million unique readers per month. Founded in autumn 1869, ''Nature'' was first circulated by Norman Lockyer and Alexander Macmillan as a public forum for scientific innovations. The mid-20th century facilitated an editorial expansion for the journal; ''Nature'' redoubled its efforts in exp ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
AAA Proteins
AAA, Triple A, or Triple-A is a three-letter initialism or abbreviation which may refer to: Airports * Anaa Airport in French Polynesia (IATA airport code AAA) * Logan County Airport (Illinois) (FAA airport code AAA) Arts, entertainment, and media Gaming * AAA (video game industry) - a category of high budget video games *'' TripleA'', an open source wargame Music Groups and labels * AAA (band), a Japanese pop band * Against All Authority (''-AAA-''), an American ska-punk band * Acid Angel From Asia ''(AAA)'' the first sub-unit of K-pop girl group TripleS referred to as "AVA" * Triple A (musical group), a Dutch trance group Works * Song on ''City'' (Strapping Young Lad album) * ''A.A.A'' (EP), by Nigerian band A.A.A Other music * Triple A or Adult Alternative Songs, a record chart Other uses in arts, entertainment, and media * Adult album alternative, a radio format * AAA, the production code for the 1970 ''Doctor Who'' serial ''Spearhead from Space'' * (''Aces o ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
DNA Res
''DNA Research'' is an international, peer reviewed journal of genomics and DNA research. The journal was established in 1994, and is published by Oxford University Press on behalf of the Kazusa DNA Research Institute. The journal is edited by Michio Oishi. Indexing and abstracting In 2014, the journal's 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 ... was 5.477, ranking 22nd out of 167 in the category 'Genetics & Heredity'. The journal is indexed and abstracted in the following databases: External links * Genetics journals Genetics literature Publications established in 1994 Bimonthly journals {{genetics-journal-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Genomics (journal)
''Genomics'' is a peer-reviewed scientific journal in genomics, publishing articles on topics such as comparative genomics, functional genomics, association studies, regulatory DNA elements, and genetics Genetics is the study of genes, genetic variation, and heredity in organisms.Hartl D, Jones E (2005) It is an important branch in biology because heredity is vital to organisms' evolution. Gregor Mendel, a Moravian Augustinian friar wor ... on a genome-wide scale. The journal was established in September 1987. Entrez NLM Catalog. Accessed 18 Aug 2009. Abstracting and indexing The journal is abstracted and indexed in:References External links * Genetics journals < ...[...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Neurology (journal)
''Neurology'' is a weekly peer-reviewed medical journal covering research in neurology. It is published by Wolters Kluwer on behalf of the American Academy of Neurology, of which it is the official journal. It has been edited since April 2020 by José G. Merino (University of Rochester Medical Center, University of Maryland). Previous editors-in-chief The following persons have been editors-in-chief: * Russell N. DeJong (1951-1977; University of Michigan Medical School), founding editor-in-chief * Lewis P. Rowland (1977-1987; Columbia University) * Robert B. Daroff (1987-1997; Case Western Reserve University School of Medicine) * Robert C. Griggs (1997-2007; University of Rochester Medical Center) * John H. Noseworthy (2007-2009; Mayo Clinic) * Robert A. Gross (2009-2020; University of Rochester Medical Center) Abstracting and indexing The journal is abstracted and indexed in: According to the ''Journal Citation Reports'' by Clarivate, the journal has a 2022 impact factor of 11.8 ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Arch
An arch is a vertical curved structure that spans an elevated space and may or may not support the weight above it, or in case of a horizontal arch like an arch dam, the hydrostatic pressure against it. Arches may be synonymous with vaults, but a vault may be distinguished as a continuous arch forming a roof. Arches appeared as early as the 2nd millennium BC in Mesopotamian brick architecture, and their systematic use started with the ancient Romans, who were the first to apply the technique to a wide range of structures. Basic concepts An arch is a pure compression form. It can span a large area by resolving forces into compressive stresses, and thereby eliminating tensile stresses. This is sometimes denominated "arch action". As the forces in the arch are transferred to its base, the arch pushes outward at its base, denominated "thrust". As the rise, i. e. height, of the arch decreases the outward thrust increases. In order to preserve arch action and prevent collapse ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Acta Neurol
Acta or ACTA may refer to: Institutions * Anti-Counterfeiting Trade Agreement, an intellectual property trade agreement * Administrative Council for Terminal Attachments, a standards organization for terminal equipment such as registered jacks * Alameda Corridor Transportation Authority, in southern California * American Council of Trustees and Alumni, an education organization * Atlantic County Transportation Authority, a transportation agency in Atlantic County, New Jersey * Australian Community Television Alliance, an industry association representing community television licensees in Australia Science and technology * Acta, the transactions (proceedings) of an academic field, a learned society, or an academic conference * Acta (software), early outliner software * Activin A, mammalian protein * ACTA1, actin alpha 1 (skeletal muscle), human protein * ACTA2, actin alpha 2 (smooth muscle), human protein * Actin assembly-inducing protein, motility protein in the bacterium ''Listeri ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
