Th1L06 Human diseases associated with the cytoskeleton

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Medicine Y1 (Theme 1 | Cells and organelles) Flashcards on Th1L06 Human diseases associated with the cytoskeleton, created by Emma Allde on 16/08/2016.
Emma Allde
Flashcards by Emma Allde, updated more than 1 year ago
Emma Allde
Created by Emma Allde over 8 years ago
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Question Answer
Duchenne and Becker Muscular Dystrophy is caused by a mutation in what protein dystrophin
Duchenne and Becker Muscular Dystrophy affects which cytoskeletal protein actin
What is the function of dystrophin vital part of a protein complex that connects the cytoskeleton of a muscle fibre to the surrounding extracellular matrix through the cell membrane
What are the symptom of Duchenne and Becker Muscular Dystrophy
Usher's syndrome affects which cytoskeletal protein actin
What are the main symptoms of Usher's syndrome Hereditary deafness and blindness
Epidermolysis bullosa simplex affects which cytoskeletal protein intermediate filaments
What causes epidermolysis bullosa simplex mutations in keratin genes results in failure to form proper keratin filaments in epidermis
What are the main symptoms of epidermolysis bullosa simplex • skin highly sensitive to mechanical energy • blistering in adults and sloughing of epidermis in newborns
Muscular dystrophy affects which cytoskeletal protein intermediate filaments
What is the cause of muscular dystrophy plectin mutations
What is the role of plectin a protein that binds to intermediary filaments these molecules link to IFs and to actin filaments and microtubules to form the net-like structure
Amyotrophic lateral sclerosis (ALS) or Motor Neuron disease is sometimes caused by mutations in which cytoskeletal protein intermediary filaments
Some hereditary forms of Amyotrophic lateral sclerosis (ALS) or Motor Neuron disease are caused by what neurofilamin genes
What is the main symptom of Amyotrophic lateral sclerosis (ALS) or Motor Neuron disease Neural degeneration
Alzheimer's disease alongside amyloid plaques, AD brains display neurofibrillary tangles comprising which cytoskeletal protein microtubules
Specifically, which MAP is implicated in Alzheimer's disease Tau
What is tau Hyperphosphorylated in tangles that cannot bind microtubules
Which cytoskeletal protein is implicated in Hereditary Spastic Paraplegia microtubules
Specifically, which MT is implicated in Hereditary Spastic Paraplegia spastin
What is spastin microtubule severing protein
Listeria bacteria hijack which cytoskeletal protein actin
What does listeria to cytoskeletal protein • hijack actin of cytoskeleton • engulfed by host cell • escapes from phagocytic vesicle • F-actin is polymerised at the back of it, providing motility • actin 'comet' drives it into the neighbouring cell"
What is Listeriosis infections of the central nervous system (meningitis, meningoencephalitis, brain abscess, cerebritis) and bactereia in those who are immunocompromised from eating contaminated foods
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