ReviewMolecular aspects of medicine2017
The proton-coupled folate transporter (PCFT-SLC46A1) and the syndrome of systemic and cerebral folate deficiency of infancy: Hereditary folate malabsorption.
Review in Molecular aspects of medicine, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 46 papers, 1 of them a synthesis that pooled it.
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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.
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Who cites it
46 citing papers in PubMed, 1 synthesis or guideline pooled it, 76 citations in OpenAlex.
- Unmetabolized Folic Acid: Biology, Epidemiology, and Clinical Consequences: A Systematic Review.Nutrients · 2026Pooled it
- Benefits of Lactic Acid Bacteria Folate Synthesis in Foods and Risks Associated with Deficiency - a Review.Probiotics and antimicrobial proteins · 2026Review
- Neuroimaging in cerebral folate deficiencies.Pediatric radiology · 2026Review
- Folate as a Key Regulator of Animal Intestinal Homeostasis: From Metabolism to Microbiota and Barrier Function.Animals : an open access journal from MDPI · 2026Review
- Role of Folate Metabolism in Neurodegenerative Diseases: Insight from Experimental and Clinical Studies.Current nutrition reports · 2026Review
- Inducible trophoblast-specific knockdown of mechanistic target of rapamycin impairs placental folate transport in mice.The Journal of nutritional biochemistry · 2026Article
- Serum and cerebral folate are normal in Down Syndrome Regression Disorder.Molecular autism · 2026Observational
- A Rare Combination of Hereditary Folate Malabsorption (SLC46A1 Gene Variant) and Beta-Thalassemia Trait.EJIFCC · 2025Article
- The SLC-ome of membrane transport: From molecular discovery to physiology and clinical applications.Physiological reviews · 2025Review
- Hereditary Folate Malabsorption Presenting With Pancytopenia in Two Siblings: A Case Report.Cureus · 2025Article
- Neuroprotective role of pyrroloquinoline quinone in folate deficiency-induced blood-brain barrier disruption.Fluids and barriers of the CNS · 2025Article
- Challenges of folate species analysis in food and biological matrices by liquid chromatography-tandem mass spectrometery.Bioanalysis · 2025Review
- Molecular basis of SLC19A1-mediated folate and cyclic dinucleotide transport.Nature communications · 2025Article
- Article
- Investigating Chromosomal Radiosensitivity in Inborn Errors of Immunity: Insights from DNA Repair Disorders and Beyond.Journal of clinical immunology · 2025Article
- Cytosolic delivery of innate immune agonists.Trends in immunology · 2024Review
- Regulation of folate transport at the mouse arachnoid barrier.Fluids and barriers of the CNS · 2024Article
- Mitochondrial One-Carbon Metabolism and Alzheimer's Disease.International journal of molecular sciences · 2024Review
- Methotrexate suppresses psoriatic skin inflammation by inhibiting muropeptide transporter SLC46A2 activity.Immunity · 2023Article
- Transporter-Mediated Drug Delivery.Molecules (Basel, Switzerland) · 2023Review
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
Abstract
The proton-coupled folate transporter (PCFT-SLC46A1) is the mechanism by which folates are absorbed across the brush-border membrane of the small intestine. The transporter is also expressed in the choroid plexus and is required for transport of folates into the cerebrospinal fluid. Loss of PCFT function, as occurs in the autosomal recessive disorder "hereditary folate malabsorption" (HFM), results in a syndrome characterized by severe systemic and cerebral folate deficiency. Folate-receptor alpha (FRα) is expressed in the choroid plexus, and loss of function of this protein, as also occurs in an autosomal recessive disorder, results solely in "cerebral folate deficiency" (CFD), the designation for this disorder. This paper reviews the current understanding of the functional and structural properties and regulation of PCFT, an electrogenic proton symporter, and contrasts PCFT properties with those of the reduced folate carrier (RFC), an organic anion antiporter, that is the major route of folate transport to systemic tissues. The clinical characteristics of HFM and its treatment, based upon the thirty-seven known cases with the clinical syndrome, of which thirty have been verified by genotype, are presented. The ways in which PCFT and FRα might interact at the level of the choroid plexus such that each is required for folate transport from blood to cerebrospinal fluid are considered along with the different clinical presentations of HFM and CFD.
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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 Socratic graph.