Receptor-mediated endocytosis is a multistep process that allows relatively large structures/molecules to enter cells. Studies of families with familial hypercholesterolemia (FH) have helped to elucidate the process of receptor-mediated endocytosis. The most common type of mutation that leads to this condition affects the LDL receptor cytoplasmic domain, usually a Tyr-to- Cys amino acid change at a single location. Explain how this specific type of mutation in this domain leads to hypercholesterolemia. Give details here, mentioning proteins and interactions affected so it is clear why such a mutation can lead to this health condition. You will need to say what happens here normally and then how this change leads to a problem. Do not just speak in generalities.
Receptor-mediated endocytosis is a multistep process that allows relatively large structures/molecules to enter cells. Studies of families with familial hypercholesterolemia (FH) have helped to elucidate the process of receptor-mediated endocytosis. The most common type of mutation that leads to this condition affects the LDL receptor cytoplasmic domain, usually a Tyr-to- Cys amino acid change at a single location. Explain how this specific type of mutation in this domain leads to hypercholesterolemia. Give details here, mentioning proteins and interactions affected so it is clear why such a mutation can lead to this health condition. You will need to say what happens here normally and then how this change leads to a problem. Do not just speak in generalities.
Human Anatomy & Physiology (11th Edition)
11th Edition
ISBN:9780134580999
Author:Elaine N. Marieb, Katja N. Hoehn
Publisher:Elaine N. Marieb, Katja N. Hoehn
Chapter1: The Human Body: An Orientation
Section: Chapter Questions
Problem 1RQ: The correct sequence of levels forming the structural hierarchy is A. (a) organ, organ system,...
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