Personalized Medicine for Metabolic Diseases: Novel Tools for the Study of Pathogenic Mechanisms and Treatment

A special issue of Journal of Personalized Medicine (ISSN 2075-4426). This special issue belongs to the section "Mechanisms of Diseases".

Deadline for manuscript submissions: closed (10 June 2024) | Viewed by 1030

Special Issue Editor


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Guest Editor
Department of Physical Chemistry, University of Granada, Granada, Spain
Interests: protein biophysics; protein–ligand interactions; protein structure and dynamics; protein stability; protein degradation; enzymology; conformational diseases; pharmacological therapies; genotype–phenotype correlations; pathogenic mechanisms
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Special Issue Information

Dear Colleagues,

In 2021, we presented a Special Issue entitled “Genotype–Phenotype Relationships, Molecular Mechanisms and Personalized Therapy of Metabolic Diseases”, which highlighted excellent contributions from researchers across the world. On behalf of myself and JPM, as an invited editor, I am pleased to present a second issue on this topic.

Background and history of this topic: Metabolic diseases are often genetic and rare, affecting less than 1/10000 individuals. However, as there are thousands of these diseases, many millions of individuals are affected. The human and social burdens are clear, and new therapeutic approaches and needed.

Aim and scope of this Special Issue: From a biochemical, biophysical and cell biology point of view, the treatment of inherited metabolic diseases is challenging. We welcome multidisciplinary original research and review articles that address the molecular mechanisms of these diseases, as well as novel approaches to their investigation and treatment.

Cutting-edge research: We aim to gather papers that use classical and state-of-the-art tools to unravel different aspects of metabolic diseases (such as structure–function relationships), and welcome metabolomic and proteomic studies. We also aim to present current advances in X-ray crystallography and cryo-EM for the investigation of these diseases.

What kinds of papers we are soliciting: We seek reviews, comments and original research. It is particularly important that manuscripts be of high quality and relevance if state-of-the-art approaches are used, described or discussed.

Dr. Angel L. Pey
Guest Editor

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. Journal of Personalized Medicine 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 2600 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.

Keywords

  • inherited metabolic disease
  • cancer
  • molecular mechanisms
  • novel therapies
  • genomics and proteomics
  • structural biology

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Published Papers (1 paper)

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Review

28 pages, 7926 KiB  
Review
Innovative Strategies in X-ray Crystallography for Exploring Structural Dynamics and Reaction Mechanisms in Metabolic Disorders
by Alice Grieco, Isabel Quereda-Moraleda and Jose Manuel Martin-Garcia
J. Pers. Med. 2024, 14(9), 909; https://doi.org/10.3390/jpm14090909 - 27 Aug 2024
Viewed by 644
Abstract
Enzymes are crucial in metabolic processes, and their dysfunction can lead to severe metabolic disorders. Structural biology, particularly X-ray crystallography, has advanced our understanding of these diseases by providing 3D structures of pathological enzymes. However, traditional X-ray crystallography faces limitations, such as difficulties [...] Read more.
Enzymes are crucial in metabolic processes, and their dysfunction can lead to severe metabolic disorders. Structural biology, particularly X-ray crystallography, has advanced our understanding of these diseases by providing 3D structures of pathological enzymes. However, traditional X-ray crystallography faces limitations, such as difficulties in obtaining suitable protein crystals and studying protein dynamics. X-ray free-electron lasers (XFELs) have revolutionized this field with their bright and brief X-ray pulses, providing high-resolution structures of radiation-sensitive and hard-to-crystallize proteins. XFELs also enable the study of protein dynamics through room temperature structures and time-resolved serial femtosecond crystallography, offering comprehensive insights into the molecular mechanisms of metabolic diseases. Understanding these dynamics is vital for developing effective therapies. This review highlights the contributions of protein dynamics studies using XFELs and synchrotrons to metabolic disorder research and their application in designing better therapies. It also discusses G protein-coupled receptors (GPCRs), which, though not enzymes, play key roles in regulating physiological systems and are implicated in many metabolic disorders. Full article
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