Predicted structures of two proteins involved in human diseases

Cell Biochemistry and Biophysics
H X Zhou, G Wang

Abstract

Structures of 79 proteins involved in human diseases were predicted by sequence alignments with structural templates. The predicted structures for ALDP and CSA, proteins responsible for adrenoleukodystrophy and the Cockayne syndrome, respectively, were analyzed to elucidate the molecular basis of disease mutations. In particular we positioned residue P484 of ALDP in the homodimer interface. This positioning is consistent with a recent experimental finding that the mutation P484R significantly decreases the self-interaction of ALDP and suggests that the disease mechanism of this mutation lies in the impaired ALDP dimerization. We identified two new WD repeats in CSA and suggest that one of these forms part of the interaction surface with other proteins.

Citations

Mar 31, 2009·Proceedings of the National Academy of Sciences of the United States of America·Tiziana NardoMiria Stefanini
Mar 26, 2003·Genes & Genetic Systems·Yan RenKiyoji Tanaka
Dec 7, 2007·Molecular Genetics and Genomics : MGG·Joel Fernandes LimaGustavo Henrique Goldman
Dec 1, 2015·Journal of Molecular Biology·Teruaki Iyama, David M Wilson
Apr 16, 2013·Mechanisms of Ageing and Development·Maria D AamannTinna Stevnsner
Mar 25, 2009·Genetic Testing and Molecular Biomarkers·Chiara ConteGiuseppe Novelli
Aug 21, 2021·DNA Repair·Liam Gaul, Jesper Q Svejstrup

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