Rare Diseases Associated with SNPs and Protein Structure Modifications
A special issue of Biomolecules (ISSN 2218-273X). This special issue belongs to the section "Biomacromolecules: Proteins".
Deadline for manuscript submissions: closed (31 August 2022) | Viewed by 10485
Special Issue Editors
Interests: alpha1-antitrypsin (AAT); acute inflammation; chronic inflammation; pulmonary disease; cancer; diabetes; inflammatory bowel diseases; skin diseases; liver diseases
Special Issue Information
Dear Colleagues,
The early diagnosis and adequate treatment of rare diseases are of great importance. However, due to insufficient data, our knowledge in these aspects is very limited. Genetic disorders often manifest in mutated proteins with modified structure and functionality, and finally lead to changes in metabolic pathways and organism homeostasis. The discovery of the linkage between single-nucleotide modification and the observed dysfunction of the organism is a challenging task, and requires the co-operation of genetics, biochemists, structural biologists, and many other specialists.
The aim of the current Special Issue is to provide substantial contributions to the field examining the structure–function relationship of the changes in proteins caused by single-nucleotide polymorphisms or their combination. We welcome original research papers presenting novel computational/experimental studies, as well as reviews, in themes including, but not limited to:
- Newly identified disorders modifying proteins’ function;
- Studies of the linkages of mutations in proteins with metabolic pathways;
- Structural analysis of the molecular basis of protein disfunction.
Prof. Dr. Sabina Wallmark
Dr. Artur Góra
Guest Editors
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Keywords
- Rare diseases
- Structure–function relationship
- SNP
- Post-translational protein modifications
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