Format:
Online-Ressource (VIII, 254 p. 54 illus., 51 illus. in color, digital)
ISBN:
9781461473091
Series Statement:
SpringerLink
Content:
Alzheimer's Disease is the most common form of dementia. The disease is characterised by the loss of synapses and neurons in the cerebral cortex and certain subcortical regions. In the last three years, the genetics of Alzheimer's Disease has made significant advances; in fact, one could argue more than in the previous two decades. This has resulted in the identification of nine new genes and perhaps more importantly the realization that new pathways could be involved in the pathogenesis of Alzheimer's. These new pathways are now legitimate targets for therapeutic intervention, which can pos
Note:
Description based upon print version of record
,
Contents; Contributors; Chapter 1: The Genetics of Alzheimer's Disease: Introduction and Perspective for the Future; References; Chapter 2: Apolipoprotein E; Introduction; APOE 's Genetic Link to AD; ApoE Expression; Apolipoprotein E Normal Function; Apolipoprotein E Lipid Binding and Transport; ApoE Lipid Delivery and Receptors; Apolipoprotein E Functions Related to Alzheimer's Disease; Amyloid-Beta-Dependent Pathways; Amyloid-Beta Independent Pathways; References; Chapter 3: Clusterin; Introduction; Clusterin: Genetics and Regulation; Clusterin: the Protein; Clusterin as a Chaperone
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Clusterin GWASThe Search for Causative Variants; Clusterin and AD; Clusterin and Aβ; Clusterin, the Cell Cycle and Apoptosis; Clusterin and Lipid Metabolism; Clusterin and Neuroinflammation; Clusterin as a Neuroprotective Guardian; Clusterin as a Therapeutic Target; References; Chapter 4: PICALM; Introduction; PICALM : Genetics and Regulation; PICALM: the Protein; PICALM GWAS; Causative Variants; Potential Role in AD; Disruption to APP Processing; APP Independent Links with AD; References; Chapter 5: Complement Component (3b/4b) Receptor 1 ( CR1); Introduction; CR1 : Genetics and Regulation
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CR1: Protein Structure and FunctionsCR1; CR1 Polymorphisms; CR1: Other Disease Associations; CR1 : GWAS; CR1 : Causative Variants; CR1 and AD; CR1 and Aβ; CR1 and Neuroinflammation; CR1 and Brain Structure; References; Chapter 6: Bridging Integrator 1 ( BIN1); Introduction; Identification; BIN1 : Genetics and Regulation; BIN1: The Protein; BAR (BIN1/Amphiphysin/RVS167 Domain); SH3 (SRC Homology 3 Domain); CLAP (Clathrin-Associated Protein-Binding Domain); PI (Phosphoinositide-Binding Domain); MBD (MYC-Binding Domain); BIN1 Transcripts; BIN1: Expression; Functional Roles of BIN1
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MYC Interaction and Tumour SuppressionT-Tubule Biogenesis and Excitation-Contraction Coupling; BIN1 and Centronuclear Myopathy (CNM); BIN1 and Myotonic Dystrophy; Clathrin Mediated Endocytosis; Infection and Immunity; Inflammatory Bowel Disease; BIN1 Other Roles; BIN1 GWAS; Epistasis; Potential Roles in AD; References; Chapter 7: ATP-Binding Cassette, Subfamily A (ABC1), Member 7 ( ABCA7); Introduction; Identification; Genetics and Regulation; Regulation; ABCA7: The Protein; ABCA7 Expression; Functional Roles of ABCA7; ABCA7 in the Central Nervous System; ABCA7 and Lipoproteins
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ABCA7 and Host DefenceComplement Mediated Activation of Phagocytosis; ABCA7 and Cellular Lipid Homeostasis; ABCA7 and Atherosclerosis; Epidermal Lipid Reorganisation; ABCA7 and Sjögrens Syndrome; ABCA7 and GWAS; Potential Roles in AD; References; Chapter 8: Membrane-Spanning 4-Domains Subfamily A, MS4A Cluster; Introduction; Genetic Variation in the MS4A Region and Alzheimer's Disease; Structural Characterisation of the MS4A Genes Implicated in Disease; MS4A2; MS4A6A; MS4A4E; MS4A4A; MS4A Structure, Function and Regulation; Conservation in the MS4A Cluster; MS4A Expression
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A Potential Role for the MS4A Region in Alzheimer's Disease
Additional Edition:
9781461473084
Additional Edition:
Erscheint auch als Druck-Ausgabe Genetic variants in Alzheimer's disease New York : Springer, 2013 9781461473084
Language:
English
Subjects:
Medicine
Keywords:
Alzheimerkrankheit
;
Genetische Variabilität
DOI:
10.1007/978-1-4614-7309-1
