Publications:

Assessment of the Phenylketonuria (PKU)-Associated Mutation p.R155H Biochemical Manifestations by Mass Spectrometry-Based Blood Metabolite Profiling.

Acta Naturae

Baturina, O A OA; Chernonosov, A A AA; Koval, V V VV; Morozov, I V IV

Publication Date: 2019

Variant appearance in text: PAH: D143G

PubMed Link: 31413878

Variant Present in the following documents:

• Main text
• AN20758251-11-2-042.pdf

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Substituting Tyr138 in the active site loop of human phenylalanine hydroxylase affects catalysis and substrate activation.

Febs Open Bio

Leandro, João J; Stokka, Anne J AJ; Teigen, Knut K; Andersen, Ole A OA; Flatmark, Torgeir T

Publication Date: 2017-07

Variant appearance in text: PAH: Asp143Gly

PubMed Link: 28680815

Variant Present in the following documents:

• FEB4-7-1026.pdf

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: PAH: D143G

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

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Protein stability and in vivo concentration of missense mutations in phenylalanine hydroxylase.

Proteins

Shi, Zhen Z; Sellers, Jenn J; Moult, John J

Publication Date: 2012-01

Variant appearance in text: PAH: D143G

PubMed Link: 21953985

Variant Present in the following documents:

• Main text

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Predicted effects of missense mutations on native-state stability account for phenotypic outcome in phenylketonuria, a paradigm of misfolding diseases.

American Journal Of Human Genetics

Pey, Angel L AL; Stricher, Francois F; Serrano, Luis L; Martinez, Aurora A

Publication Date: 2007-11

Variant appearance in text: PAH: D143G

PubMed Link: 17924342

Variant Present in the following documents:

• Main text

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