ArticleBMC genomics2016
Impaired telomere maintenance in Alazami syndrome patients with LARP7 deficiency.
Article in BMC genomics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 42 citations in OpenAlex.
- La protein binding to telomerase RNA supports an evolutionary relationship between plant and ciliate telomerase pathways.Nucleic acids research · 2026Article
- LARP7 protects against ischemic brain injury by modulating NLRP3 deacetylation to suppress neuronal pyroptosis.Journal of neuroinflammation · 2025Article
- Alazami syndrome with a single LARP7 variant and concurrent osteo-oto-hepato-enteric syndrome: A case of complex genetic interplay.Radiology case reports · 2025Article
- Transcriptome-proteome integration analysis identifies elevated expression of LARP7 promoting the tumorigenesis and development of gastrointestinal stromal tumors.Translational oncology · 2025Article
- Functional Characterization of Variants inHuman mutation · 2025Review
- LARP3, LARP7, and MePCE are involved in the early stage of human telomerase RNA biogenesis.Nature communications · 2024Article
- Maturation of small nucleolar RNAs: from production to function.RNA biology · 2023Review
- A putative cap binding protein and the methyl phosphate capping enzyme Bin3/MePCE function in telomerase biogenesis.Nature communications · 2022Article
- The human telomeric proteome during telomere replication.Nucleic acids research · 2021Article
- [7SK truncation at 128-179 nt suppresses embryonic stem cell proliferationNan fang yi ke da xue xue bao = Journal of Southern Medical University · 2021Article
- Structure ofRNA biology · 2021Article
- Article
- Imaging assay to probe the role of telomere length shortening on telomere-gene interactions in single cells.Chromosoma · 2021Article
- Review
- Article
- de novo MEPCE nonsense variant associated with a neurodevelopmental disorder causes disintegration of 7SK snRNP and enhanced RNA polymerase II activation.Scientific reports · 2019Article
- Updating the neurodevelopmental profile of Alazami syndrome: Illustrating the role of developmental assessment in rare genetic disorders.American journal of medical genetics. Part A · 2019Article
- Telomeres and telomerase: three decades of progress.Nature reviews. Genetics · 2019Review
- LARP7 family proteins have conserved function in telomerase assembly.Nature communications · 2018Article
- Pof8 is a La-related protein and a constitutive component of telomerase in fission yeast.Nature communications · 2018Article
Corrections and comments
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Authors and funding
10 authors at 4 institutions in 3 countries.
Funding
Abstract
backgroundLoss of function in genes required for telomere maintenance result in disorders known as telomeropathies, which are characterized by a pattern of symptoms including generalized and specific lymphocytopenias as well as very short telomere length and disease anticipation.
methodsBecause human LARP7 is the most likely ortholog of the Tetrahymena p65 protein, which is required for telomerase activity in that organism, we investigated the effects of LARP7 silencing in human cells as well as in two distinct families with Alazami syndrome (loss of function of LARP7).
resultsDepletion of LARP7 caused a reduction in telomerase enzymatic activity and progressively shorter telomeres in human cancer cell lines. Alazami syndrome patients from two separate cohorts exhibited very short lymphocyte telomeres. Further, wild-type offspring of LARP7 mutant individuals also had very short telomeres, comparable to what is observed in telomerase (hTERT) mutant cohorts.
conclusionsTogether, these experiments demonstrate that in addition to the readily apparent developmental disorder associated with LARP7 deficiency, an underlying telomeropathy exists even in unaffected siblings of these individuals.
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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.