Auguste D
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Auguste D
Auguste Deter (; 16 May 1850 – 8 April 1906) was a German woman notable for being the first person to be diagnosed with Alzheimer's disease. Life Auguste was born in Kassel, Hesse-Kassel on May 16, 1850. Born into a working-class family, Auguste had three siblings and was a daughter to Johannes Hohmann. Auguste's father died when she was young. Even though Auguste's family was impoverished, she was well-educated. She attended school in Cassell, and it is speculated that she may have been a student of Dr. Alois Alzheimer's grandfather, Johann. He was a schoolmaster in Cassell during the time Auguste attended school. Further education was not possible for Auguste due to social norms and her family's financial situation. Auguste started work as a full-time seamstress assistant at the age of 14. She continued this career until she married Carl August Wilhelm Deter on 1 May 1873, at the age of 23. In 1888, Carl began work as a railway clerk. After marrying Carl, Auguste m ...
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Kassel
Kassel (; in Germany, spelled Cassel until 1926) is a city on the Fulda River in northern Hesse, Germany. It is the administrative seat of the Regierungsbezirk Kassel and the district of the same name and had 201,048 inhabitants in December 2020. The former capital of the state of Hesse-Kassel has many palaces and parks, including the Bergpark Wilhelmshöhe, which is a UNESCO World Heritage Site. Kassel is also known for the '' documenta'' exhibitions of contemporary art. Kassel has a public university with 25,000 students (2018) and a multicultural population (39% of the citizens in 2017 had a migration background). History Kassel was first mentioned in 913 AD, as the place where two deeds were signed by King Conrad I. The place was called ''Chasella'' or ''Chassalla'' and was a fortification at a bridge crossing the Fulda river. There are several yet unproven assumptions of the name's origin. It could be derived from the ancient ''Castellum Cattorum'', a castle of the ...
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Insomnia
Insomnia, also known as sleeplessness, is a sleep disorder in which people have trouble sleeping. They may have difficulty falling asleep, or staying asleep as long as desired. Insomnia is typically followed by daytime sleepiness, low energy, irritability, and a depressed mood. It may result in an increased risk of motor vehicle collisions, as well as problems focusing and learning. Insomnia can be short term, lasting for days or weeks, or long term, lasting more than a month. The concept of the word insomnia has two possibilities: insomnia disorder and insomnia symptoms, and many abstracts of randomized controlled trials and systematic reviews often underreport on which of these two possibilities the word insomnia refers to. Insomnia can occur independently or as a result of another problem. Conditions that can result in insomnia include psychological stress, chronic pain, heart failure, hyperthyroidism, heartburn, restless leg syndrome, menopause, certain medications, and d ...
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Amyloid Precursor Protein
Amyloid-beta precursor protein (APP) is an integral membrane protein expressed in many biological tissue, tissues and concentrated in the synapses of neurons. It functions as a cell surface receptor and has been implicated as a regulator of synapse formation, neural plasticity, antimicrobial activity, and iron export. It is coded for by the gene ''APP'' and regulated by substrate presentation. APP is best known as the precursor molecule whose proteolysis generates amyloid beta (Aβ), a polypeptide containing 37 to 49 amino acid residues, whose Amyloid#Structure, amyloid fibrillar form is the primary component of amyloid plaques found in the brains of Alzheimer's disease patients. Genetics Amyloid-beta precursor protein is an ancient and highly Conserved sequence, conserved protein. In humans, the gene ''APP'' is located on chromosome 21 and contains 18 exons spanning 290 kilobases. Several alternative splicing isoforms of APP have been observed in humans, ranging in len ...
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Exon
An exon is any part of a gene that will form a part of the final mature RNA produced by that gene after introns have been removed by RNA splicing. The term ''exon'' refers to both the DNA sequence within a gene and to the corresponding sequence in RNA transcripts. In RNA splicing, introns are removed and exons are covalently joined to one another as part of generating the mature RNA. Just as the entire set of genes for a species constitutes the genome, the entire set of exons constitutes the exome. History The term ''exon'' derives from the expressed region and was coined by American biochemist Walter Gilbert in 1978: "The notion of the cistron… must be replaced by that of a transcription unit containing regions which will be lost from the mature messengerwhich I suggest we call introns (for intragenic regions)alternating with regions which will be expressedexons." This definition was originally made for protein-coding transcripts that are spliced before being translated. ...
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Zygosity
Zygosity (the noun, zygote, is from the Greek "yoked," from "yoke") () is the degree to which both copies of a chromosome or gene have the same genetic sequence. In other words, it is the degree of similarity of the alleles in an organism. Most eukaryotes have two matching sets of chromosomes; that is, they are diploid. Diploid organisms have the same loci on each of their two sets of homologous chromosomes except that the sequences at these loci may differ between the two chromosomes in a matching pair and that a few chromosomes may be mismatched as part of a chromosomal sex-determination system. If both alleles of a diploid organism are the same, the organism is homozygous at that locus. If they are different, the organism is heterozygous at that locus. If one allele is missing, it is hemizygous, and, if both alleles are missing, it is nullizygous. The DNA sequence of a gene often varies from one individual to another. These gene variants are called alleles. While some gen ...
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Gamma Secretase
Gamma secretase is a multi-subunit protease complex, itself an integral membrane protein, that cleaves single-pass transmembrane proteins at residues within the transmembrane domain. Proteases of this type are known as intramembrane proteases. The most well-known substrate of gamma secretase is amyloid precursor protein, a large integral membrane protein that, when cleaved by both gamma and beta secretase, produces a short 37-43 amino acid peptide called amyloid beta whose abnormally folded fibrillar form is the primary component of amyloid plaques found in the brains of Alzheimer's disease patients. Gamma secretase is also critical in the related processing of several other type I integral membrane proteins, such as Notch, ErbB4, E-cadherin, N-cadherin, ephrin-B2, or CD44. Subunits and assembly The gamma secretase complex consists of four individual proteins: PSEN1 (presenilin-1), nicastrin, APH-1 (anterior pharynx-defective 1), and PEN-2 (presenilin enhancer 2). Recent evidenc ...
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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 ...
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PSEN1
Presenilin-1 (PS-1) is a presenilin protein that in humans is encoded by the ''PSEN1'' gene. Presenilin-1 is one of the four core proteins in the gamma secretase complex, which is considered to play an important role in generation of amyloid beta (Aβ) from amyloid-beta precursor protein (APP). Accumulation of amyloid beta is associated with the onset of Alzheimer's disease. Structure Presenilin possesses a 9 transmembrane domain topology, with an extracellular C-terminus and a cytosolic N-terminus. Presenilin undergoes endo-proteolytic processing to produce ~27-28 kDa N-terminal and ~16-17 kDa C-terminal fragments in humans. Furthermore, presenilin exists in the cell mainly as a heterodimer of the C-terminal and N-terminus fragments. When presenilin 1 is overexpressed, the full length protein accumulates in an inactive form. Based on evidence that a gamma-secretase inhibitor binds to the fragments, the cleaved presenilin complex is considered to be the active form. Function ...
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Mutation
In biology, a mutation is an alteration in the nucleic acid sequence of the genome of an organism, virus, or extrachromosomal DNA. Viral genomes contain either DNA or RNA. Mutations result from errors during DNA or viral replication, mitosis, or meiosis or other types of damage to DNA (such as pyrimidine dimers caused by exposure to ultraviolet radiation), which then may undergo error-prone repair (especially microhomology-mediated end joining), cause an error during other forms of repair, or cause an error during replication (translesion synthesis). Mutations may also result from insertion or deletion of segments of DNA due to mobile genetic elements. Mutations may or may not produce detectable changes in the observable characteristics (phenotype) of an organism. Mutations play a part in both normal and abnormal biological processes including: evolution, cancer, and the development of the immune system, including junctional diversity. Mutation is the ultimate source o ...
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The Lancet Neurology
''The Lancet'' is a weekly peer-reviewed general medical journal and one of the oldest of its kind. It is also the world's highest-impact academic journal. It was founded in England in 1823. The journal publishes original research articles, review articles ("seminars" and "reviews"), editorials, book reviews, correspondence, as well as news features and case reports. ''The Lancet'' has been owned by Elsevier since 1991, and its editor-in-chief since 1995 has been Richard Horton. The journal has editorial offices in London, New York City, and Beijing. History ''The Lancet'' was founded in 1823 by Thomas Wakley, an English surgeon who named it after the surgical instrument called a lancet (scalpel). Members of the Wakley family retained editorship of the journal until 1908. In 1921, ''The Lancet'' was acquired by Hodder & Stoughton. Elsevier acquired ''The Lancet'' from Hodder & Stoughton in 1991. Impact According to the ''Journal Citation Reports'', the journal has a 2021 im ...
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Sydney
Sydney ( ) is the capital city of the state of New South Wales, and the most populous city in both Australia and Oceania. Located on Australia's east coast, the metropolis surrounds Sydney Harbour and extends about towards the Blue Mountains to the west, Hawkesbury to the north, the Royal National Park to the south and Macarthur to the south-west. Sydney is made up of 658 suburbs, spread across 33 local government areas. Residents of the city are known as "Sydneysiders". The 2021 census recorded the population of Greater Sydney as 5,231,150, meaning the city is home to approximately 66% of the state's population. Estimated resident population, 30 June 2017. Nicknames of the city include the 'Emerald City' and the 'Harbour City'. Aboriginal Australians have inhabited the Greater Sydney region for at least 30,000 years, and Aboriginal engravings and cultural sites are common throughout Greater Sydney. The traditional custodians of the land on which modern Sydney stands are ...
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Giessen
Giessen, spelled Gießen in German (), is a town in the German state (''Bundesland'') of Hesse, capital of both the district of Giessen and the administrative region of Giessen. The population is approximately 90,000, with roughly 37,000 university students. The name comes from ''Giezzen'', as it was first referred to in 1197, which refers to the position of the town between several rivers, lakes and streams. The largest river in Giessen is the Lahn, which divides the town in two parts (west and east), roughly north of Frankfurt am Main. Giessen is also home to the University of Giessen. In 1969, the town hosted the ninth ''Hessentag'' state festival. History Giessen came into being as a moated castle in 1152 built by Count Wilhelm von Gleiberg, although the history of the community in the northeast and in today's suburb called "Wieseck" dates back to 775. The town became part of Hesse-Marburg in 1567, passing to Hesse-Darmstadt in 1604. The University of Giessen was founded i ...
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