ArticleAmerican journal of human genetics2015
Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy.
Article in American journal of human genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 64 papers.
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Who cites it
64 citing papers in PubMed, 129 citations in OpenAlex.
- Pathomechanism of Fever-Induced Liver Failure in NBAS Deficiency and Treatment Effect of NAC-Observations In Vitro and In Vivo.Liver international : official journal of the International Association for the Study of the Liver · 2026Article
- Fever-Triggered Recurrent Acute Liver Failure Due to NBAS Mutation in a Child.Indian journal of pediatrics · 2026Article
- The incidence, frequency of late liver-related complications, and transplant likelihood in pediatric acute liver failure in Californian children.Hepatology communications · 2026Article
- A novel compound heterozygous NBAS variant with HLH and multisystem involvement: expanding the clinical spectrum and literature review.Frontiers in immunology · 2026Review
- SCYL1 deficiency in CALFAN syndrome is associated with ER stress and cell death.Disease models & mechanisms · 2025Article
- Paediatric acute liver failure: A prospective, nationwide, population-based surveillance study in Germany.Journal of pediatric gastroenterology and nutrition · 2025Article
- Cytokine-Induced Cytotoxicity and Extracellular Matrix Abnormalities in Hepatocytes Derived From RAD50-Interacting Protein 1-Deficient Induced Pluripotent Stem Cells.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2025Article
- Hepatic Phenotype in NBAS-Associated Disease: Clinical Course, Prognostic Factors and Outcome in 230 Patients.Liver international : official journal of the International Association for the Study of the Liver · 2025Observational
- RNA sequencing driven diagnosis expands the phenotypic spectrum of NBAS deficiency.Molecular genetics and metabolism · 2025Article
- [Clinical features and genetic study of four cases of pediatric acute liver failure caused byZhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology · 2025Article
- Case Report: Living donor liver transplantation for the treatment of recurrent pediatric acute liver failure with neuroblastoma amplified sequence gene mutation: a literature review.Frontiers in pediatrics · 2025Article
- Disorders of vesicular trafficking presenting with recurrent acute liver failure: NBAS, RINT1, and SCYL1 deficiency.Journal of inherited metabolic disease · 2025Review
- A novel splicing variant inFrontiers in genetics · 2025Article
- Spermidine Recovers the Autophagy Defects Underlying the Pathophysiology of Cell Trafficking Disorders.Journal of inherited metabolic disease · 2025Article
- Article
- The role of syntaxins in retinal function and health.Frontiers in cellular neuroscience · 2024Review
- Increased Diagnostic Yield by Reanalysis of Whole Exome Sequencing Data in Mitochondrial Disease.Journal of neuromuscular diseases · 2024Article
- The diagnostic yield of exome sequencing in liver diseases from a curated gene panel.Scientific reports · 2023Article
- Translation-coupled mRNA quality control mechanisms.The EMBO journal · 2023Review
- Acute infantile liver failure syndrome type 2 in a 2.5-year-old boy: A case report.Clinical case reports · 2023Article
4 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
32 authors at 13 institutions in 5 countries.
Funding
Abstract
Acute liver failure (ALF) in infancy and childhood is a life-threatening emergency. Few conditions are known to cause recurrent acute liver failure (RALF), and in about 50% of cases, the underlying molecular cause remains unresolved. Exome sequencing in five unrelated individuals with fever-dependent RALF revealed biallelic mutations in NBAS. Subsequent Sanger sequencing of NBAS in 15 additional unrelated individuals with RALF or ALF identified compound heterozygous mutations in an additional six individuals from five families. Immunoblot analysis of mutant fibroblasts showed reduced protein levels of NBAS and its proposed interaction partner p31, both involved in retrograde transport between endoplasmic reticulum and Golgi. We recommend NBAS analysis in individuals with acute infantile liver failure, especially if triggered by fever.
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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.