ArticleHepatology (Baltimore, Md.)2018
Organic solute transporter-β (SLC51B) deficiency in two brothers with congenital diarrhea and features of cholestasis.
Article in Hepatology (Baltimore, Md.), 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers.
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Who cites it
36 citing papers in PubMed, 59 citations in OpenAlex.
- Structural insights into OSTα/β-mediated transport of bile acids and steroid conjugates.Nature structural & molecular biology · 2026Article
- A lipid-tuned bile acid exporter: structural insight into intestinal bile acid efflux.Signal transduction and targeted therapy · 2026Article
- Altered Bile Acid Transport in Liver Disease.Biomedicines · 2026Review
- Gut Microbiota-Bile Acid Axis in Type 2 Diabetes-Associated Gallbladder Diseases: Mechanisms and Therapeutic Potential.Metabolites · 2026Review
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- Article
- Review
- Transcriptome-based analysis reveals relationship between duck eggshell color and eggshell strength.BMC genomics · 2025Article
- Genotypes and different clinical variants between children and adults in progressive familial intrahepatic cholestasis: a state-of-the-art review.Orphanet journal of rare diseases · 2025Review
- Bile Acid Signaling in Metabolic and Inflammatory Diseases and Drug Development.Pharmacological reviews · 2024Review
- Diet management in congenital diarrheas and enteropathies - general concepts and disease-specific approach, a narrative review.The American journal of clinical nutrition · 2024Review
- Diagnostic yield and novel candidate genes by next generation sequencing in 166 children with intrahepatic cholestasis.Hepatology international · 2024Article
- Bile salt signaling and bile salt-based therapies in cardiometabolic disease.Clinical science (London, England : 1979) · 2024Article
- A Dual Coverage Monitoring of the Bile Acids Profile in the Liver-Gut Axis throughout the Whole Inflammation-Cancer Transformation Progressive: Reveal Hepatocellular Carcinoma Pathogenesis.International journal of molecular sciences · 2023Article
- Role of Hepatocyte Transporters in Drug-Induced Liver Injury (DILI)-In Vitro Testing.Pharmaceutics · 2022Review
- Fat Malabsorption and Ursodeoxycholic Acid Treatment in Children With Reduced Organic Solute Transporter-α (JPGN reports · 2022Article
- Review
- Differential and organ-specific functions of organic solute transporter α and β in experimental cholestasis.JHEP reports : innovation in hepatology · 2022Article
- Contributions of bile acids to gastrointestinal physiology as receptor agonists and modifiers of ion channels.American journal of physiology. Gastrointestinal and liver physiology · 2022Article
- Modulation of Bile Acid Metabolism to Improve Plasma Lipid and Lipoprotein Profiles.Journal of clinical medicine · 2021Review
Corrections and comments
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Authors and funding
7 authors at 4 institutions in 4 countries.
Funding
Abstract
Primary bile acid malabsorption is associated with congenital diarrhea, steatorrhea, and a block in the intestinal return of bile acids in the enterohepatic circulation. Mutations in the ileal apical sodium-dependent bile acid transporter (ASBT; SLC10A2) can cause primary bile acid malabsorption but do not appear to account for most familial cases. Another major transporter involved in the intestinal reclamation of bile acids is the heteromeric organic solute transporter alpha-beta (OSTα-OSTβ; SLC51A-SLC51B), which exports bile acid across the basolateral membrane. Here we report the first patients with OSTβ deficiency, clinically characterized by chronic diarrhea, severe fat soluble vitamin deficiency, and features of cholestatic liver disease including elevated serum gamma-glutamyltransferase activity. Whole exome sequencing revealed a homozygous single nucleotide deletion in codon 27 of SLC51B, resulting in a frameshift and premature termination at codon 50. Functional studies in transfected cells showed that the SLC51B mutation resulted in markedly reduced taurocholic acid uptake activity and reduced expression of the OSTα partner protein.
conclusionThe findings identify OSTβ deficiency as a cause of congenital chronic diarrhea with features of cholestatic liver disease. These studies underscore OSTα-OSTβ's key role in the enterohepatic circulation of bile acids in humans. (Hepatology 2017).
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