Special Issue "Rare Diseases Associated with SNPs and Protein Structure Modifications"
Deadline for manuscript submissions: closed (31 August 2022) | Viewed by 7238
Interests: alpha1-antitrypsin (AAT); acute inflammation; chronic inflammation; pulmonary disease; cancer; diabetes; inflammatory bowel diseases; skin diseases; liver diseases
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
Manuscript Submission Information
Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.
Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Biomolecules is an international peer-reviewed open access monthly journal published by MDPI.
Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2700 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.
- Rare diseases
- Structure–function relationship
- Post-translational protein modifications