ReviewInternational journal of molecular sciences2019
Amino Acid Transport Defects in Human Inherited Metabolic Disorders.
Review in International journal of molecular sciences, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
34 citing papers in PubMed, 1 synthesis or guideline pooled it, 63 citations in OpenAlex.
- Sarcopenia Is a Prognostic Factor of Adverse Effects and Mortality in Patients With Tumour: A Systematic Review and Meta-Analysis.Journal of cachexia, sarcopenia and muscle · 2024Pooled it
- Amino Acid Metabolism in Health and Disease.MedComm · 2026Review
- How variant discovery redefines genetic prevalence: the case of cystine stone disease.European journal of human genetics : EJHG · 2026Article
- Targeting mitochondrial transporters and metabolic reprogramming for disease treatment.Journal of translational medicine · 2025Review
- Article
- Mechanisms involved in aminoacidurias: impacts of genetic and environmental factors.Current research in physiology · 2025Review
- Genome-wide identification ofFrontiers in genetics · 2025Article
- LysineFrontiers in molecular neuroscience · 2025Review
- The role of double heterozygotes of SLC3A1 and SLC7A9 in the prevalence of cystine stones.Genetics in medicine : official journal of the American College of Medical Genetics · 2025Article
- Rescue of cochlear vascular pathology prevents sensory hair cell loss in Norrie disease.Proceedings of the National Academy of Sciences of the United States of America · 2024Article
- Amino acid metabolism in kidney health and disease.Nature reviews. Nephrology · 2024Review
- metaExpertPro: A Computational Workflow for Metaproteomics Spectral Library Construction and Data-Independent Acquisition Mass Spectrometry Data Analysis.Molecular & cellular proteomics : MCP · 2024Article
- Expanded inherited metabolic diseases screening by tandem mass spectrophotometry: The first report from Iran.Molecular genetics and metabolism reports · 2024Article
- Cryo-EM structure of the human Asc-1 transporter complex.Nature communications · 2024Article
- Systemic gene therapy rescues retinal dysfunction and hearing loss in a model of Norrie disease.EMBO molecular medicine · 2023Article
- Aspartic Acid in Health and Disease.Nutrients · 2023Review
- Population genetics analysis of SLC3A1 and SLC7A9 revealed the etiology of cystine stone may be more than what our current genetic knowledge can explain.Urolithiasis · 2023Article
- CHARMM-GUIJournal of chemical theory and computation · 2023Review
- COVID-19 Vaccines and the Virus: Impact on Drug Metabolism and Pharmacokinetics.Drug metabolism and disposition: the biological fate of chemicals · 2023Review
- The causal associations of circulating amino acids with blood pressure: a Mendelian randomization study.BMC medicine · 2022Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Amino acid transporters play very important roles in nutrient uptake, neurotransmitter recycling, protein synthesis, gene expression, cell redox balance, cell signaling, and regulation of cell volume. 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. To date, 65 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. This review intends to summarize and update all the 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. In this work, the physiological functions of amino acid transporters will be described by the inherited diseases that arise from transporter impairment. The pathogenesis, clinical phenotype, laboratory findings, diagnosis, genetics, and treatment of these disorders are also briefly described. Appropriate clinical and diagnostic characterization of the underlying molecular defect may give patients the opportunity to avail themselves of appropriate therapeutic options in the future.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.