ArticleThe Journal of allergy and clinical immunology2020
Defective Sec61α1 underlies a novel cause of autosomal dominant severe congenital neutropenia.
Article in The Journal of allergy and clinical immunology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 45 citations in OpenAlex.
- Identification of a Novel De Novo Heterozygous SEC61A1 Variant in a Patient With Severe Congenital Neutropenia.Molecular genetics & genomic medicine · 2026Article
- ASNA1 is essential for cardiac development and function by regulating tail-anchored protein stability and vesicular transport in cardiomyocytes.PLoS genetics · 2025Article
- Rules of Engagement for Components of Membrane Protein Biogenesis at the Human Endoplasmic Reticulum.International journal of molecular sciences · 2025Review
- Review
- Exploring the ER channel protein Sec61: recent advances in pathophysiological significance and novel pharmacological inhibitors.Frontiers in pharmacology · 2025Review
- Non-Malignant Granulocyte and Monocyte Disorders: An Update.British journal of biomedical science · 2025Review
- A JAGN1-associated severe congenital neutropenia zebrafish model revealed an altered G-CSFR signaling and UPR activation.Blood advances · 2024Article
- Hypoaldosteronism due to a novel SEC61A1 variant successfully treated with fludrocortisone.Clinical kidney journal · 2024Article
- Comparative analysis of SEC61A1 mutant R236C in two patient-derived cellular platforms.Scientific reports · 2024Article
- Association of neutrophil defects with oral ulcers but undetermined role of neutrophils in recurrent aphthous stomatitis.Heliyon · 2024Review
- Exploring Co-expression Modules-Traits Correlation through Weighted Gene Co-expression Network Analysis: A Promising Approach in Wound Healing Research.Medical journal of the Islamic Republic of Iran · 2024Article
- Integrated Bioinformatic Analysis of Differentially Expressed Genes Associated with Wound Healing.Cell journal · 2023Article
- Quantitative Mass Spectrometry Characterizes Client Spectra of Components for Targeting of Membrane Proteins to and Their Insertion into the Membrane of the Human ER.International journal of molecular sciences · 2023Review
- Editorial: The evolving picture of CaFrontiers in physiology · 2023Article
- Genome-wide screening identified SEC61A1 as an essential factor for mycolactone-dependent apoptosis in human premonocytic THP-1 cells.PLoS neglected tropical diseases · 2022Article
- Autosomal dominant tubulointerstitial kidney disease: more than just HNF1β.Pediatric nephrology (Berlin, Germany) · 2022Review
- Phenylbutyrate rescues the transport defect of the Sec61α mutations V67G and T185A for renin.Life science alliance · 2022Article
- Sec61 complex/translocon: The role of an atypical ER CaFrontiers in physiology · 2022Review
- Signal Peptide Features Determining the Substrate Specificities of Targeting and Translocation Components in Human ER Protein Import.Frontiers in physiology · 2022Review
- The Molecular Biodiversity of Protein Targeting and Protein Transport Related to the Endoplasmic Reticulum.International journal of molecular sciences · 2021Review
Corrections and comments
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Authors and funding
30 authors at 8 institutions in 4 countries.
Funding
Abstract
backgroundThe molecular cause of severe congenital neutropenia (SCN) is unknown in 30% to 50% of patients. SEC61A1 encodes the α-subunit of the Sec61 complex, which governs endoplasmic reticulum protein transport and passive calcium leakage. Recently, mutations in SEC61A1 were reported to be pathogenic in common variable immunodeficiency and glomerulocystic kidney disease.
objectiveOur aim was to expand the spectrum of SEC61A1-mediated disease to include autosomal dominant SCN.
methodsWhole exome sequencing findings were validated, and reported mutations were compared by Western blotting, Ca2
resultsWe identified a novel de novo missense mutation in SEC61A1 (c.A275G;p.Q92R) in a patient with SCN who was born to nonconsanguineous Belgian parents. The mutation results in diminished protein expression, disturbed protein translocation, and an increase in calcium leakage from the endoplasmic reticulum. In vitro differentiation of CD34
conclusionSpecific mutations in SEC61A1 cause SCN through dysregulation of the UPR.
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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.