ArticleBlood2023
Human genetic defects in SRP19 and SRPRA cause severe congenital neutropenia with distinctive proteome changes.
Article in Blood, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 28 citations in OpenAlex.
- Human SRP Subunits Coordinate Protein Targeting and mRNA Quality Control.bioRxiv : the preprint server for biology · 2026Article
- SRPRA affects hyperoxia-induced bronchopulmonary dysplasia by modulating endoplasmic reticulum stress through the CHOP pathway.Journal of cardiothoracic surgery · 2026Article
- Mutations in VPS18 lead to a neutrophil maturation defect associated with disturbed vesicle homeostasis.Cell death & disease · 2026Article
- Article
- Genome-wide association study for Kleiber ratio and growth efficiency traits in Lori-Bakhtiari sheep.Tropical animal health and production · 2025Article
- Human inborn errors of immunity: 2024 update on the classification from the International Union of Immunological Societies Expert Committee.Journal of human immunity · 2025Article
- The Sequence [RRKLPVGRS] Is a Nuclear Localization Signal for Importin 8 Binding (NLS8): A Chemical Biology and Bioinformatics Study.International journal of molecular sciences · 2025Article
- Non-Malignant Granulocyte and Monocyte Disorders: An Update.British journal of biomedical science · 2025Review
- Exploring the ER channel protein Sec61: recent advances in pathophysiological significance and novel pharmacological inhibitors.Frontiers in pharmacology · 2025Review
- The nucleolar phase of signal recognition particle assembly.Life science alliance · 2024Article
- Generation of complex bone marrow organoids from human induced pluripotent stem cells.Nature methods · 2024Article
- Quantitative proteomics reveals tissue-specific, infection-induced and species-specific neutrophil protein signatures.Scientific reports · 2024Article
- Reduced toxicity matched sibling bone marrow transplant results in excellent outcomes for severe congenital neutropenia.Frontiers in immunology · 2024Article
- A signal recognition particle receptor gene from the sea cucumber, Apostichopus japonicas.Scientific reports · 2023Article
- Shwachman-Diamond syndromes: clinical, genetic, and biochemical insights from the rare variants.Haematologica · 2023Article
- Zebrafish: A Relevant Genetic Model for Human Primary Immunodeficiency (PID) Disorders?International journal of molecular sciences · 2023Review
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Authors and funding
33 authors at 13 institutions in 6 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The mechanisms of coordinated changes in proteome composition and their relevance for the differentiation of neutrophil granulocytes are not well studied. Here, we discover 2 novel human genetic defects in signal recognition particle receptor alpha (SRPRA) and SRP19, constituents of the mammalian cotranslational targeting machinery, and characterize their roles in neutrophil granulocyte differentiation. We systematically study the proteome of neutrophil granulocytes from patients with variants in the SRP genes, HAX1, and ELANE, and identify global as well as specific proteome aberrations. Using in vitro differentiation of human induced pluripotent stem cells and in vivo zebrafish models, we study the effects of SRP deficiency on neutrophil granulocyte development. In a heterologous cell-based inducible protein expression system, we validate the effects conferred by SRP dysfunction for selected proteins that we identified in our proteome screen. Thus, SRP-dependent protein processing, intracellular trafficking, and homeostasis are critically important for the differentiation of neutrophil granulocytes.
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