Interpreting the molecular mechanisms of disease variants in human transmembrane proteins-Reference-Cited by-同舟云学术

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Interpreting the molecular mechanisms of disease variants in human transmembrane proteins

Published:2023-06 Issue:11 Volume:122 Page:2176-2191
ISSN:0006-3495
Container-title:Biophysical Journal
language:en
Short-container-title:Biophysical Journal

Author:

Tiemann Johanna Katarina Sofie,Zschach Henrike,Lindorff-Larsen Kresten,Stein Amelie^ORCID

Funder

Lundbeck Foundation

Novo Nordisk Fonden

Publisher

Elsevier BV

Subject

Biophysics

Reference85 articles.

1. Mutational effects and the evolution of new protein functions;Soskine;Nat. Rev. Genet.,2010

2. Predicted effects of missense mutations on native-state stability account for phenotypic outcome in phenylketonuria, a paradigm of misfolding diseases;Pey;Am. J. Hum. Genet.,2007

3. Loss of protein structure stability as a major causative factor in monogenic disease;Yue;J. Mol. Biol.,2005

4. Correlating disease-related mutations to their effect on protein stability: a large-scale analysis of the human proteome;Casadio;Hum. Mutat.,2011

5. Large scale analysis of protein stability in OMIM disease related human protein variants;Martelli;BMC Genom.,2016

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