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3 Cards in this Set
- Front
- Back
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Intermediate filament diseases |
Mutation in cytokeratin gene (skin blister) = epidermolysis bullosa simplex Mutation in desmin gene = familiar cardiomyopathy Mutation in neurofilament (multiple genetic, environmental factors) - progressive loss motoneurons --> muscle atrophy, paralysis = ALS (amyotrophic lateral sclerosis; Lou Gehrigs disease) |
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Intermediate filament junctions |
Spot desmosome (macula adherens) - cadherins, catenins, cytoplasmic plaque Hemidesmosome - link cell to basal membrane |
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Intermediate junction disease |
Pemphigus, bullous pemphigoid - severe skin blisters due to autoantibodies against desmosomal, hemidesmosomal proteins * it´s damage is involved in pathomechanism of pemphigus disease = spot desmosome - not hemidesmosome |
