Toward mechanistic models for genotype–phenotype correlations in phenylketonuria using protein stability calculations
Abstract
Phenylketonuria (PKU) is a genetic disorder caused by variants in the gene encoding phenylalanine hydroxylase (PAH), resulting in accumulation of phenylalanine to neurotoxic levels. Here, we analyzed the cellular stability, localization, and interaction with wild-type PAH of 20 selected PKU-linked PAH protein missense variants. Several were present at reduced levels in human cells, and the levels increased in the presence of a proteasome...
Paper Details
Title
Toward mechanistic models for genotype–phenotype correlations in phenylketonuria using protein stability calculations
Published Date
Jan 25, 2019
Journal
Volume
40
Issue
4
Pages
444 - 457
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