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Amino Acid Transport Defects in Human Inherited Metabolic Disorders

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Endocrinology and Metabolism".

Deadline for manuscript submissions: closed (15 January 2023) | Viewed by 2497

Special Issue Editors

Department of Pediatrics, University Hospital “Marqués de Valdecilla”- University of Cantabria, Instituto de Investigación Valdecilla (IDIVAL), Avenida Cardenal Herrera Oria s/n, 39011 Santander (CANTABRIA), Spain
Interests: inborn errors of metabolism; human (pediatric) genetics and genomics; developmental genetics; rare diseases; pediatric nephrology
Special Issues, Collections and Topics in MDPI journals
Laboratory of Metabolic Disorders and Newborn Screening Centre of Eastern Andalusia, Málaga Regional University Hospital, Institute of Biomedical Research-IBIMA-Plataforma BIONAND, 29011 Málaga, Spain
Interests: inborn errors of metabolism; inherited metabolic disorders; biochemical genetics; newborn screening; tandem mass spectrometry; gene therapies
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Amino acid transporters play essential roles in nutrient uptake, neurotransmitter recycling, protein synthesis, gene expression, cell redox balance, cell signaling, and regulation of cell volume. To date, 66 different human solute carrier (SLC) families and more than 400 transporter genes have been identified, including 11 that are known to include amino acid transporters. With regard to transporters that are closely connected to metabolism, amino acid transporter-associated diseases are linked to metabolic disorders, particularly when they involve different organs, cell types, or cell compartments.

There are many conditions in which a strong association has been found between an amino acid transporter and an inherited metabolic disorder. Many of these inherited disorders have been identified in recent years. Understanding the physiological mechanisms that regulate these transporters, their function, and their distribution will help us to better understand the pathophysiology of these diseases. Moreover, amino acid transporters have also been receiving a great amount of attention as molecular targets as they are preferentially expressed in some cancer cells. Indeed, the therapeutic approach using transporter inhibitors for cancer prevention has been proven to be efficacious in cell lines and animal experiments and is now under evaluation in a clinical trial.

We encourage the submission of original research articles, communications, and topical reviews on all aspects related to metabolic inherited diseases that arise from amino acid transporter impairment: pathogenesis, laboratory findings, diagnosis, molecular research, and therapeutic targets.

Dr. Domingo González-Lamuño
Dr. Raquel Yahyaoui
Guest Editors

Manuscript Submission Information

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  • amino acid transporter
  • inborn errors of metabolism
  • inherited metabolic disorders
  • SLC
  • solute carriers
  • membrane transport
  • symporter

Published Papers (1 paper)

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17 pages, 1986 KiB  
Contribution of the L-Type Amino Acid Transporter Family in the Diagnosis and Treatment of Prostate Cancer
Int. J. Mol. Sci. 2023, 24(7), 6178; https://doi.org/10.3390/ijms24076178 - 24 Mar 2023
Cited by 1 | Viewed by 2043
The L-type amino acid transporter (LAT) family contains four members, LAT1~4, which are important amino acid transporters. They mainly transport specific amino acids through cell membranes, provide nutrients to cells, and are involved in a variety of metabolic pathways. They regulate the mTOR [...] Read more.
The L-type amino acid transporter (LAT) family contains four members, LAT1~4, which are important amino acid transporters. They mainly transport specific amino acids through cell membranes, provide nutrients to cells, and are involved in a variety of metabolic pathways. They regulate the mTOR signaling pathway which has been found to be strongly linked to cancer in recent years. However, in the field of prostate cancer (PCa), the LAT family is still in the nascent stage of research, and the importance of LATs in the diagnosis and treatment of prostate cancer is still unknown. Therefore, this article aims to report the role of LATs in prostate cancer and their clinical significance and application. LATs promote the progression of prostate cancer by increasing amino acid uptake, activating the mammalian target of rapamycin (mTOR) pathway and downstream signals, mediating castration-resistance, promoting tumor angiogenesis, and enhancing chemotherapy resistance. The importance of LATs as diagnostic and therapeutic targets for prostate cancer was emphasized and the latest research results were introduced. In addition, we introduced selective LAT1 inhibitors, including JPH203 and OKY034, which showed excellent inhibitory effects on the proliferation of various tumor cells. This is the future direction of amino acid transporter targeting therapy drugs. Full article
(This article belongs to the Special Issue Amino Acid Transport Defects in Human Inherited Metabolic Disorders)
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