Disease Flashcards

1
Q

What is the cause of Griscelli’s syndrome?

A

RabGTPase activity is mutated so no docking of vesicles

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2
Q

What stage of exocytosis is affected by familial haemophagocytic lymphohistiocytosis?

A

Fusion of vesicles to membrane

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3
Q

What molecule is mutated in FHL4?

A

Syntaxin 11

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4
Q

What protein is mutated in FHL-5?

A

Munc18-2

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