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SPAST
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 (SPG4). See also Spastic paraplegia Microtubule-associated protein In cell biology, microtubule-associated proteins (MAPs) are proteins that interact with the ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
AAA Proteins
AAA (ATPases Associated with diverse cellular Activities) proteins (speak: triple-A ATPases) are a large group of protein family sharing a common conserved module of approximately 230 amino acid residues. This is a large, functionally diverse protein family belonging to the AAA+ protein superfamily of ring-shaped P-loop NTPases, which exert their activity through the energy-dependent remodeling or translocation of macromolecules. AAA proteins couple chemical energy provided by ATP hydrolysis to conformational changes which are transduced into mechanical force exerted on a macromolecular substrate. AAA proteins are functionally and organizationally diverse, and vary in activity, stability, and mechanism. Members of the AAA family are found in all organisms and they are essential for many cellular functions. They are involved in processes such as DNA replication, protein degradation, membrane fusion, microtubule severing, peroxisome biogenesis, signal transduction and the r ... [...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 abnormality, 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 ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Gene
In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. 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 non-coding genes. During gene expression (the synthesis of Gene product, RNA or protein from a gene), DNA is first transcription (biology), copied into RNA. RNA can be non-coding RNA, directly functional or be the intermediate protein biosynthesis, template for the synthesis of a protein. The transmission of genes to an organism's offspring, is the basis of the inheritance of phenotypic traits from one generation to the next. These genes make up different DNA sequences, together called a genotype, that is specific to every given individual, within the gene pool of the population (biology), population of a given species. The genotype, along with environmental and developmental factors, ultimately determines the phenotype ... [...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 (Georgetown University). 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 The impact factor (IF) or journal impac ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Genetic Diseases And Disorders
Genetic may refer to: *Genetics, in biology, the science of genes, heredity, and the variation of organisms **Genetic, used as an adjective, refers to genes ***Genetic disorder, any disorder caused by a genetic mutation, whether inherited or de novo ***Genetic mutation, a change in a gene ****Heredity, genes and their mutations being passed from parents to offspring **Genetic recombination, refers to the recombining of alleles resulting in a new molecule of DNA *Genetic relationship (linguistics), in linguistics, a relationship between two languages with a common ancestor language *Genetic algorithm In computer science and operations research, a genetic algorithm (GA) is a metaheuristic inspired by the process of natural selection that belongs to the larger class of evolutionary algorithms (EA). Genetic algorithms are commonly used to g ..., in computer science, a kind of search technique modeled on evolutionary biology See also * Genetic memory (other) {{disam ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Inherited Disorders Of Trafficking
Inherited disorders of trafficking (IDT) are a family of disorders that involve vesicular delivery of proteins. They were characterized in 1975. CEDNIK syndrome (Cerebral Dysgenesis, Neuropathy, Ichthyosis and Keratoderma Syndrome) is a rare inherited genetic skin condition ( Genodermatosis) which has been associated with a loss-of-function mutation in SNAP29; SNAP29 is a member of the SNAP Receptor (SNARE) protein family. SNARE proteins assist with vesicle trafficking and are responsible for the fusion events between the membranes of vesicles and the membranes of their targets. There are two types of SNARE proteins, v-SNARE's which are located on vesicle membranes, and t-SNARE's that are located on target membranes.Lodish, H., Berk, A., Kaiser, C., Krieger, M., Bretscher, A., Ploegh, H., & Amon, A. (2013). ''Molecular Cell Biology'' (7th ed.). New York, NY: W. H. Freeman and Company. SNAP29 is a t-SNARE, and as a t-SNARE, this protein must form a complex with v-SNARE's for fusio ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cytoskeletal Defects
The cytoskeleton is a complex, dynamic network of interlinking protein filaments present in the cytoplasm of all cells, including those of bacteria and archaea. In eukaryotes, it extends from the cell nucleus to the cell membrane and is composed of similar proteins in the various organisms. It is composed of three main components: microfilaments, intermediate filaments, and microtubules, and these are all capable of rapid growth and or disassembly depending on the cell's requirements. Cytoskeleton can perform many functions. Its primary function is to give the cell its shape and mechanical resistance to deformation, and through association with extracellular connective tissue and other cells it stabilizes entire tissues. The cytoskeleton can also contract, thereby deforming the cell and the cell's environment and allowing cells to migrate. Moreover, it is involved in many cell signaling pathways and in the uptake of extracellular material (endocytosis), the segregation of chromo ... [...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] |
Arch
An arch is a curved vertical structure spanning an open space underneath it. Arches may support the load above them, or they may perform a purely decorative role. As a decorative element, the arch dates back to the 4th millennium BC, but structural load-bearing arches became popular only after their adoption by the Ancient Romans in the 4th century BC. Arch-like structures can be horizontal, like an arch dam that withstands the horizontal hydrostatic pressure load. Arches are usually used as supports for many types of vaults, with the barrel vault in particular being a continuous arch. Extensive use of arches and vaults characterizes an arcuated construction, as opposed to the trabeated system, where, like in the architectures of ancient Greece, China, and Japan (as well as the modern steel-framed technique), posts and beams dominate. Arches had several advantages over the lintel, especially in the masonry construction: with the same amount of material it can have ... [...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 type of journal ranking. Journals with higher impact factor values are considered more prestigious or important within their field. The Impact Factor of a journa ... 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 Academic journals established in 1994 Bimonthly journals {{genetics-journal-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
