Phenylketonuria as a protein misfolding disease: The mutation pG46S in phenylalanine hydroxylase promotes self-association and fibril formation-Reference-Cited by-同舟云学术

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Phenylketonuria as a protein misfolding disease: The mutation pG46S in phenylalanine hydroxylase promotes self-association and fibril formation

Published:2011-01 Issue:1 Volume:1812 Page:106-120
ISSN:0925-4439
Container-title:Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
language:en
Short-container-title:Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Author:

Leandro João,Simonsen Nina,Saraste Jaakko,Leandro Paula,Flatmark Torgeir

Funder

Fundação para a Ciência e a Tecnologia, Portugal

University of Bergen, Norway

Publisher

Elsevier BV

Subject

Molecular Biology,Molecular Medicine

Reference77 articles.

1. PAH Mutation Analysis Consortium Database: a database for disease-producing and other allelic variation at the human PAH locus;Hoang;Nucleic Acids Res.,1996

2. Monogenic traits are not simple: lessons from phenylketonuria;Scriver;Trends Genet.,1999

3. Molecular characterization of disease related mutant forms of human phenylalanine hydroxylase and tyrosine hydroxylase;Flatmark,1997

4. How PAH gene mutations cause hyper-phenylalaninemia and why mechanism matters: insights from in vitro expression;Waters;Hum. Mutat.,2003

5. The role of chaperone-assisted folding and quality control in inborn errors of metabolism: protein folding disorders;Gregersen;J. Inherit. Metab. Dis.,2001

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1. TMAO to the rescue of pathogenic protein variants;Biochimica et Biophysica Acta (BBA) - General Subjects;2022-11

2. Deubiquitinase USP19 extends the residual enzymatic activity of phenylalanine hydroxylase variants;Scientific Reports;2022-08-20

3. Deubiquitinase USP19 enhances phenylalanine hydroxylase protein stability and its enzymatic activity;Cell Biology and Toxicology;2022-04-21

4. Modulation of Human Phenylalanine Hydroxylase by 3-Hydroxyquinolin-2(1H)-One Derivatives;Biomolecules;2021-03-19

5. Effect of disease-linked mutations on the structure, function, stability and aggregation of human carbonic anhydrase II;International Journal of Biological Macromolecules;2020-01

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