ArticleCell reports2018
Shwachman-Diamond Syndrome Protein SBDS Maintains Human Telomeres by Regulating Telomerase Recruitment.
Article in Cell reports, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 28 citations in OpenAlex.
- Germline variants in acquired aplastic anemia: current knowledge and future perspectives.Haematologica · 2024Review
- ILF3 safeguards telomeres from aberrant homologous recombination as a telomeric R-loop reader.Protein & cell · 2024Article
- Fyn-mediated phosphorylation of Menin disrupts telomere maintenance in stem cells.bioRxiv : the preprint server for biology · 2024Article
- DTX2 promotes glioma development via regulation of HLTF.Biology direct · 2024Article
- MCCC2 is a novel mediator between mitochondria and telomere and functions as an oncogene in colorectal cancer.Cellular & molecular biology letters · 2023Article
- A Simple and Affordable Method to Create Nonsense Mutation Clones of p53 for Studying the Premature Termination Codon Readthrough Activity of PTC124.Biomedicines · 2023Article
- Telomere biology: from disorders to hematological diseases.Frontiers in oncology · 2023Review
- An inducible CRISPR/Cas9 screen identifies DTX2 as a transcriptional regulator of human telomerase.iScience · 2022Article
- Genome-wide whole-blood transcriptome profiling across inherited bone marrow failure subtypes.Blood advances · 2021Article
- Enhanced p53 Levels Are Involved in the Reduced Mineralization Capacity of Osteoblasts Derived from Shwachman-Diamond Syndrome Subjects.International journal of molecular sciences · 2021Article
- TRIM28 inhibits alternative lengthening of telomere phenotypes by protecting SETDB1 from degradation.Cell & bioscience · 2021Article
- [Clinical features, diagnosis, and treatment of Chinese children with Shwachman-Diamond syndrome].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2020Article
- Article
- Basic and translational aging research in China: present and future.Protein & cell · 2019Review
Corrections and comments
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Authors and funding
10 authors at 3 institutions in 2 countries.
Funding
Abstract
Shwachman-Diamond syndrome (SDS) is a rare pediatric disease characterized by various systemic disorders, including hematopoietic dysfunction. The mutation of Shwachman-Bodian-Diamond syndrome (SBDS) gene has been proposed to be a major causative reason for SDS. Although SBDS patients were reported to have shorter telomere length in granulocytes, the underlying mechanism is still unclear. Here we provide data to elucidate the role of SBDS in telomere protection. We demonstrate that SBDS deficiency leads to telomere shortening. We found that overexpression of disease-associated SBDS mutants or knockdown of SBDS hampered the recruitment of telomerase onto telomeres, while the overall reverse transcriptase activity of telomerase remained unaffected. Moreover, we show that SBDS could specifically bind to TPP1 during the S phase of cell cycle, likely functioning as a stabilizer for TPP1-telomerase interaction. Our findings suggest that SBDS is a telomere-protecting protein that participates in regulating telomerase recruitment.
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