ArticleNature communications2020
Human FCHO1 deficiency reveals role for clathrin-mediated endocytosis in development and function of T cells.
Article in Nature communications, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 34 citations in OpenAlex.
- GTPase RAB31 supports ANXA1-driven macrophage education through clathrin-mediated endocytosis to suppress antitumor immunity.Journal for immunotherapy of cancer · 2026Article
- Using CRISPR/Cas9 to investigate the role of candidate human disease gene orthologs in Ciona.bioRxiv : the preprint server for biology · 2026Article
- Microbiome-Derived Metabolites Shape CD4bioRxiv : the preprint server for biology · 2026Article
- Effect of Chronic Stress on Whole Blood Transcriptome: A Meta-Analysis of Publicly Available Datasets from Rodent Models.bioRxiv : the preprint server for biology · 2025Article
- Human FCHO1 deficiency: review of the literature and additional two cases.Clinical and experimental immunology · 2025Review
- XAF1 is secreted from stressed tumor cells to activate T cell-mediated tumor surveillance via Lck-ERK signaling.Neoplasia (New York, N.Y.) · 2025Article
- Genomic Regions Associated with Resistance to Gastrointestinal Nematode Parasites in Sheep-A Review.Genes · 2024Review
- Causal effects of gut microbiota on sepsis and sepsis-related death: insights from genome-wide Mendelian randomization, single-cell RNA, bulk RNA sequencing, and network pharmacology.Journal of translational medicine · 2024Article
- CamoTSS: analysis of alternative transcription start sites for cellular phenotypes and regulatory patterns from 5' scRNA-seq data.Nature communications · 2023Article
- Exosomal transmission of viruses, a two-edged biological sword.Cell communication and signaling : CCS · 2023Review
- FCHO controls AP2's initiating role in endocytosis through a PtdIns(4,5)PScience advances · 2022Article
- Imaging vesicle formation dynamics supports the flexible model of clathrin-mediated endocytosis.Nature communications · 2022Article
- Are Alzheimer's and coronary artery diseases genetically related to longevity?Frontiers in psychiatry · 2022Article
- The paradigm of hematological malignant versus non-malignant manifestations, driven by primary immunodeficiencies: a complex interplay.Familial cancer · 2021Article
- Mechanisms and functions of endocytosis in T cells.Cell communication and signaling : CCS · 2021Review
- Inflammatory Bowel Disease and Guillain Barre Syndrome in FCHO1 Deficiency.Journal of clinical immunology · 2021Article
- Review
- Phenotypic Characteristics and Copy Number Variants in a Cohort of Colombian Patients with VACTERL Association.Molecular syndromology · 2020Article
Corrections and comments
- Erratum issued
Authors and funding
26 authors at 11 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Clathrin-mediated endocytosis (CME) is critical for internalisation of molecules across cell membranes. The FCH domain only 1 (FCHO1) protein is key molecule involved in the early stages of CME formation. The consequences of mutations in FCHO1 in humans were unknown. We identify ten unrelated patients with variable T and B cell lymphopenia, who are homozygous for six distinct mutations in FCHO1. We demonstrate that these mutations either lead to mislocalisation of the protein or prevent its interaction with binding partners. Live-cell imaging of cells expressing mutant variants of FCHO1 provide evidence of impaired formation of clathrin coated pits (CCP). Patient T cells are unresponsive to T cell receptor (TCR) triggering. Internalisation of the TCR receptor is severely perturbed in FCHO1-deficient Jurkat T cells but can be rescued by expression of wild-type FCHO1. Thus, we discovered a previously unrecognised critical role of FCHO1 and CME during T-cell development and function in humans.
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