ArticleAmerican journal of human genetics2013
Macrocytic anemia and mitochondriopathy resulting from a defect in sideroflexin 4.
Article in American journal of human genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 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.
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Who cites it
43 citing papers in PubMed, 1 synthesis or guideline pooled it, 69 citations in OpenAlex.
- Pooled it
- SFXN3 Serves as a Predictive Biomarker for Cisplatin Response and Survival in Head and Neck Squamous Cell Carcinoma.Oncology research · 2026Article
- Morpholino Knockdown in Zebrafish: A Tool to Investigate the Functional Impact of Variants of Unknown Significance in Mitochondrial Diseases.Neuromolecular medicine · 2025Review
- Multi-omics integrative analysis reveals novel genetic loci and candidate genes for ischemic stroke.Molecular therapy. Nucleic acids · 2025Article
- Diabetes, macrocytosis, and skin changes in large-scale mtDNA deletion.Journal of pediatric endocrinology & metabolism : JPEM · 2025Article
- Update of the sideroflexin (SLC56) gene family.Human genomics · 2025Review
- Iron Metabolism and Muscle Aging: Where Ferritinophagy Meets Mitochondrial Quality Control.Cells · 2025Review
- SFXN2 contributes mitochondrial dysfunction-induced apoptosis as a substrate of Parkin.Frontiers in cellular neuroscience · 2025Article
- Identification and validation of the nicotine metabolism-related signature of bladder cancer by bioinformatics and machine learning.Frontiers in immunology · 2024Article
- Translation Fidelity and Respiration Deficits in CLPP-Deficient Tissues: Mechanistic Insights from Mitochondrial Complexome Profiling.International journal of molecular sciences · 2023Article
- Comprehensive analysis of the role of SFXN family in breast cancer.Open medicine (Warsaw, Poland) · 2023Article
- Comprehensive Analysis of Sideroflexin 4 in Hepatocellular Carcinoma by Bioinformatics and Experiments.International journal of medical sciences · 2023Article
- Complementary anti-cancer pathways triggered by inhibition of sideroflexin 4 in ovarian cancer.Scientific reports · 2022Article
- A High-Throughput Search for SFXN1 Physical Partners Led to the Identification of ATAD3, HSD10 and TIM50.Biology · 2022Article
- Article
- Clinical implementation of RNA sequencing for Mendelian disease diagnostics.Genome medicine · 2022Article
- Sideroflexin 4 is a complex I assembly factor that interacts with the MCIA complex and is required for the assembly of the ND2 module.Proceedings of the National Academy of Sciences of the United States of America · 2022Article
- Regulation of Heme Synthesis by Mitochondrial Homeostasis Proteins.Frontiers in cell and developmental biology · 2022Review
- Review
- The mitochondrial carrier SFXN1 is critical for complex III integrity and cellular metabolism.Cell reports · 2021Article
Corrections and comments
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Authors and funding
27 authors at 12 institutions in 3 countries.
Funding
Abstract
We used exome sequencing to identify mutations in sideroflexin 4 (SFXN4) in two children with mitochondrial disease (the more severe case also presented with macrocytic anemia). SFXN4 is an uncharacterized mitochondrial protein that localizes to the mitochondrial inner membrane. sfxn4 knockdown in zebrafish recapitulated the mitochondrial respiratory defect observed in both individuals and the macrocytic anemia with megaloblastic features of the more severe case. In vitro and in vivo complementation studies with fibroblasts from the affected individuals and zebrafish demonstrated the requirement of SFXN4 for mitochondrial respiratory homeostasis and erythropoiesis. Our findings establish mutations in SFXN4 as a cause of mitochondriopathy and macrocytic anemia.
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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.