ArticleBlood2016
A recurring mutation in the respiratory complex 1 protein NDUFB11 is responsible for a novel form of X-linked sideroblastic anemia.
Article in Blood, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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
18 citing papers in PubMed.
- CRISPR/Cas9-Mediated Correction of the SLC25A38 Mutation in a Patient With Sideroblastic Anemia.The journal of gene medicine · 2026Article
- Recessive variants in mitochondrial complex I nuclear subunits are an underrated cause of optic atrophy.Brain : a journal of neurology · 2026Article
- Identification of a novel truncated pathogenic variant in PUS1 gene in two siblings of consanguineous Tunisian family: intrafamilial phenotypic variability related to mtDNA copy number.Annals of hematology · 2025Article
- Case report: severe hypertrophic cardiomyopathy in a female neonate caused byEuropean heart journal. Case reports · 2024Article
- A Novel Mutation Associated with Neonatal Lethal Cardiomyopathy Leads to an Alternative Transcript Expression in the X-Linked Complex IInternational journal of molecular sciences · 2023Article
- Linear Skin Defects with Multiple Congenital Anomalies (LSDMCA): An Unconventional Mitochondrial Disorder.Genes · 2021Review
- The Mysterious Multitude: Structural Perspective on the Accessory Subunits of Respiratory Complex I.Frontiers in molecular biosciences · 2021Review
- Analysis of Human Mutations in the Supernumerary Subunits of Complex I.Life (Basel, Switzerland) · 2020Review
- Complex I deficiency and Leigh syndrome through the eyes of a clinician.EMBO molecular medicine · 2020Article
- Understanding Sideroblastic Anemia: An Overview of Genetics, Epidemiology, Pathophysiology and Current Therapeutic Options.Journal of blood medicine · 2020Review
- Hotspot SF3B1 mutations induce metabolic reprogramming and vulnerability to serine deprivation.The Journal of clinical investigation · 2019Article
- Refractory anemia with ring sideroblasts (RARS) and RARS with thrombocytosis: "2019 Update on Diagnosis, Risk-stratification, and Management".American journal of hematology · 2019Review
- Prohibitin: A hypothetical target for sex-based new therapeutics for metabolic and immune diseases.Experimental biology and medicine (Maywood, N.J.) · 2019Review
- The molecular genetics of sideroblastic anemia.Blood · 2019Review
- Recurrent heteroplasmy for the MT-ATP6 p.Ser148Asn (m.8969G>A) mutation in patients with syndromic congenital sideroblastic anemia of variable clinical severity.Haematologica · 2018Article
- Iron metabolism in erythroid cells and patients with congenital sideroblastic anemia.International journal of hematology · 2018Review
- Splicing factor mutations in MDS RARS and MDS/MPN-RS-T.International journal of hematology · 2017Review
- Refractory anemia with ring sideroblasts (RARS) and RARS with thrombocytosis (RARS-T): 2017 update on diagnosis, risk-stratification, and management.American journal of hematology · 2017Review
Corrections and comments
- Commented on by
Authors and funding
18 authors.
Funding
Abstract
The congenital sideroblastic anemias (CSAs) are a heterogeneous group of inherited blood disorders characterized by pathological mitochondrial iron deposition in erythroid precursors. Each known cause has been attributed to a mutation in a protein associated with heme biosynthesis, iron-sulfur cluster biogenesis, mitochondrial translation, or a component of the mitochondrial respiratory chain. Here, we describe a recurring mutation, c.276_278del, p.F93del, in NDUFB11, a mitochondrial respiratory complex I-associated protein encoded on the X chromosome, in 5 males with a variably syndromic, normocytic CSA. The p.F93del mutation results in respiratory insufficiency and loss of complex I stability and activity in patient-derived fibroblasts. Targeted introduction of this allele into K562 erythroleukemia cells results in a proliferation defect with minimal effect on erythroid differentiation potential, suggesting the mechanism of anemia in this disorder.
Indexed as
Identifiers
What OpenQuestion holds
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.