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Biomedicines
Special Issues
Biomedical Advances in ABC Transporters: From Bench to Bedside
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Biomedical Advances in ABC Transporters: From Bench to Bedside

A special issue of Biomedicines (ISSN 2227-9059). This special issue belongs to the section "Molecular and Translational Medicine".

Deadline for manuscript submissions: 31 December 2024 | Viewed by 3555

Special Issue Editor

Dr. Jyh-Yeuan Lee

E-Mail Website
Guest Editor
Department of Biochemistry, Microbiology and Immunology, Faculty of Medicine, University of Ottawa, Ottawa, ON, Canada
Interests: ABC transporters; membrane proteins; structural biology; lipid metabolism; cardio-metabolic disorders

Special Issue Information

Dear Colleagues,

The goal of this Special Issue, “Biomedical Advances in ABC Transporters: from Bench to Bedside”, is to present the state-of-the-art of our current knowledge about the roles and mechanisms of ABC transporters and the advancement in therapeutics and medical care that are derived from biomedical studies on this important superfamily of transporter proteins. This issue will be presented through original research reports, reviews, and commentaries. Topics may include, but are not limited to:

  • Bioinformatics and molecular evolution of ABC transporters;
  • Structure–function relationship on ABC transporter-associated human diseases;
  • ABC transporters multidrug resistance;
  • Metabolism ABC transporters;
  • Roles of ABC transporters in infectious diseases;
  • Cell and animal models to study ABC transporters in human physiology and disease pathology;
  • Drug discovery and drug design on the basis of structural and molecular findings;
  • Targeted therapies to rescue defective ABC transporters;
  • Targeted therapies to modulate ABC transporter functions;
  • Perspectives related to genetic or functional defects of ABC transporters;
  • Clinical trials and population-based studies in ABC transporter-associated disorders;
  • Rare genetic diseases associated with ABC transporters.

Dr. Jyh-Yeuan Lee
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. Biomedicines 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

  • ABC transporter
  • bench to bedside
  • structure-function relationship
  • multidrug resistance
  • metabolism
  • drug discovery
  • targeted therapy
  • genetic disease
  • infectious disease
  • clinical trials

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Published Papers (2 papers)

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Review

25 pages, 2942 KiB  
Review
ABCA3 c.838C>T (p.Arg280Cys, R280C) and c.697C>T (p.Gln233Ter, Q233X, Q233*) as Causative Variants for RDS: A Family Case Study and Literature Review
by Maria Livia Ognean, Mădălina Anciuc-Crauciuc, Radu Galiș, Alex-Emilian Stepan, Mioara Desdemona Stepan, Claudia Bănescu, Florin Grosu, Boris W. Kramer and Manuela Cucerea
Biomedicines 2024, 12(10), 2390; https://doi.org/10.3390/biomedicines12102390 (registering DOI) - 18 Oct 2024
Abstract
Background: Respiratory distress syndrome (RDS) is the primary cause of respiratory failure in preterm infants, but it also affects 5–7% of term infants. Dysfunctions in pulmonary surfactant metabolism, resulting from mutations of the lung surfactant genes, are rare diseases, ranging from fatal neonatal [...] Read more.
Background: Respiratory distress syndrome (RDS) is the primary cause of respiratory failure in preterm infants, but it also affects 5–7% of term infants. Dysfunctions in pulmonary surfactant metabolism, resulting from mutations of the lung surfactant genes, are rare diseases, ranging from fatal neonatal RDS to interstitial lung disease, associated with increased morbidity and mortality. This study aims to clarify the clinical significance of ABCA3 variants found in a specific family case, as existing data in the literature are inconsistent. Material and Methods: A family case report was conducted; targeted panel genetic testing identified a variant of the SFTPB gene and two variants of ABCA3 genes. Comprehensive research involving a systematic review of PubMed, Google Scholar databases, and genome browsers was used to clarify the pathogenicity of the two ABCA3 variants found in the index patient. Advanced prediction tools were employed to assess the pathogenicity of the two ABCA3 variants, ensuring the validity and reliability of our findings. Results: The index case exhibited fatal neonatal RDS. Genetic testing revealed the presence of the SFTPB p.Val267Ile variant, which was not previously reported but is a benign variant based on family genetic testing and history. Additionally, two ABCA3 gene variants were identified: c.697C>T, not yet reported, and c.838C>T. These variants were found to affect ABCA3 protein function and were likely associated with neonatal RDS. Prediction tools and data from nine other cases in the literature supported this conclusion. Conclusions: Based on in silico predictors, an analysis of the presented family, and cases described in the literature, it is reasonable to consider reclassifying the two ABCA3 variants identified in the index case as pathogenic/pathogenic. Reclassification will improve genetic counseling accuracy and facilitate correct diagnosis. Full article
(This article belongs to the Special Issue Biomedical Advances in ABC Transporters: From Bench to Bedside)
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14 pages, 1514 KiB  
Review
Biomedical Advances in ABCA1 Transporter: From Bench to Bedside
by Hong Y. Choi, Senna Choi, Iulia Iatan, Isabelle Ruel and Jacques Genest
Biomedicines 2023, 11(2), 561; https://doi.org/10.3390/biomedicines11020561 - 15 Feb 2023
Cited by 3 | Viewed by 2821
Abstract
ATP-binding cassette transporter A1 (ABCA1) has been identified as the molecular defect in Tangier disease. It is biochemically characterized by absence of high-density lipoprotein cholesterol (HDL-C) in the circulation, resulting in the accumulation of cholesterol in lymphoid tissues. Accumulation of cholesterol in arteries [...] Read more.
ATP-binding cassette transporter A1 (ABCA1) has been identified as the molecular defect in Tangier disease. It is biochemically characterized by absence of high-density lipoprotein cholesterol (HDL-C) in the circulation, resulting in the accumulation of cholesterol in lymphoid tissues. Accumulation of cholesterol in arteries is an underlying cause of atherosclerosis, and HDL-C levels are inversely associated with the presence of atherosclerotic cardiovascular disease (ASCVD). ABCA1 increases HDL-C levels by driving the generation of new HDL particles in cells, and cellular cholesterol is removed in the process of HDL generation. Therefore, pharmacological strategies that promote the HDL biogenic process by increasing ABCA1 expression and activity have been intensively studied to reduce ASCVD. Many ABCA1-upregulating agents have been developed, and some have shown promising effects in pre-clinical studies, but no clinical trials have met success yet. ABCA1 has long been an attractive drug target, but the failed clinical trials have indicated the difficulty of therapeutic upregulation of ABCA1, as well as driving us to: improve our understanding of the ABCA1 regulatory system; to develop more specific and sophisticated strategies to upregulate ABCA1 expression; and to search for novel druggable targets in the ABCA1-dependent HDL biogenic process. In this review, we discuss the beginning, recent advances, challenges and future directions in ABCA1 research aimed at developing ABCA1-directed therapies for ASCVD. Full article
(This article belongs to the Special Issue Biomedical Advances in ABC Transporters: From Bench to Bedside)
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