What question did this study set out to answer?

This research investigates how specific mutations in the LDL receptor affect its intracellular transport and stability.

Transport-deficient mutations in the low density lipoprotein receptor. Alterations in the cysteine-rich and cysteine-poor regions of the protein block intracellular transport.

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Randomized trial reveals blocked intracellular transport of LDL receptors in individuals with FH, suggesting free cysteines aren’t necessary.

This research investigates how specific mutations in the LDL receptor affect its intracellular transport and stability.
Cloning and expression of mutant allele FH 429
Analysis of cDNA to recreate the mutation
Evaluation of free cysteine involvement in transport deficiency
FH 429 mutation leads to rapid degradation of the LDL receptor without reaching the cell surface
Three transport-deficient alleles correlate with the cysteine-rich regions
Free cysteines are not essential for blocking intracellular movement of mutant LDL receptors

Esser et al. (1988) studied this question.

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Randomized trial reveals blocked intracellular transport of LDL receptors in individuals with FH, suggesting free cysteines aren’t necessary.