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In this chapter, we review the diseases caused by misfolding of proteins. The more common proteopathies such as Alzheimer’s disease, Parkinson’s disease, Huntington disease, amyotrophic lateral sclerosis, human prion disease, and muscle dystrophy (and its many forms) are described. Deposits of amyloidosis and tau, which deposit in many proteopathies are characterized and their functions are described.
is caused by misfolded β-amyloid proteins. It is one of the most common proteopathies.
is a hormone which is packaged with insulin and secreted from the beta cells in the pancreas.
is a condition in which deposits of amyloid are found in various organs.
is a neurodegenerative disease caused by mutations that lead to misfolding of copper-zinc superoxide dismutase 1.
is caused by mutations in the dystrophin gene.
is caused by mutations in laminin-α2.
complexes with amyloid to form a substance that exhibits a green birefringence when exposed to polarized light.
is caused by mutations in the dysferlin gene.
is caused by a mutation of the dystrophin gene. It is the most common form of muscular dystrophy.
is caused by mutations in the lamin A/C gene, and emerin gene, syne1 and 2.
Facioscapulohumeral muscular dystrophy
is caused by mutations in the double homeobox 4 gene.
is a rare form of Alzheimer’s disease.
is a geometrical shape formed by an amyloid deposit.
is a comorbid condition to ALS. Comorbid means that the condition occurs with another disease.
is a protein which when misfolded has symptoms similar to those of ALS especially in that it progresses more slowly than does ALS.
are neurodegenerative diseases that are inheritable and are transmitted by misfolded proteins.
refers to a neurodegenerative disease caused by misfolding of huntingtin protein.
are cytoplasmic inclusions.
is the name given to a long list of disorders that is enumerated in the text.
is the cause of Parkinson’s disease (both familial and sporadic).
is a common form of muscular dystrophy.
is a form of muscular dystrophy caused by expansion of the repeat region of the dystrophia myotonica protein kinase.
is caused by a mutation in nucleic acid-binding protein.
is caused by mutations in the polyadenylate binding protein nuclear 1.
is the second most common neurodegenerative condition of greater than 65 years of age.
is the common form of Alzheimer’s disease.
is a geometrical shape taken when amino acid side chains of a β-sheet interdigitates with the side chains of amino acids of an adjacent β-sheet (similar to the teeth of a zipper).
are a group of neurodegenerative diseases characterized by fibrillary aggregates of α-synuclein. Misfolding of synuclein is currently believed to be one of the causes of Parkinson’s disease.
is a DNA binding protein which when misfolded by mutation is a cause of Alzheimer’s disease.
is an intrinsically disordered phosphoprotein used for the formation of microtubules.
is exhibited in several proteopathies.
is a neurogenerative disease caused by mutated ubiquilin.
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