ArticleEuropean journal of human genetics : EJHG2015
Truncated prelamin A expression in HGPS-like patients: a transcriptional study.
Article in European journal of human genetics : EJHG, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 30 citations in OpenAlex.
- Metabolic Dysregulation in Laminopathies: Implications for Heart Failure and Cardiac Health.Current heart failure reports · 2026Review
- Article
- Indirect bypass for revascularization in Hutchinson-Gilford progeria syndrome: an illustrative case.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2025Review
- Mesenchymal stem cells derived from patients with premature aging syndromes display hallmarks of physiological aging.Life science alliance · 2022Article
- MG132 Induces Progerin Clearance and Improves Disease Phenotypes in HGPS-like Patients' Cells.Cells · 2022Article
- Review
- A splicing LMNA mutation causing laminopathies accompanied by aortic valve malformation.Journal of clinical laboratory analysis · 2021Article
- Pharmacotherapy to gene editing: potential therapeutic approaches for Hutchinson-Gilford progeria syndrome.GeroScience · 2020Review
- Outcomes of 4 years of molecular genetic diagnosis on a panel of genes involved in premature aging syndromes, including laminopathies and related disorders.Orphanet journal of rare diseases · 2019Article
- The Cutting Edge: The Role of mTOR Signaling in Laminopathies.International journal of molecular sciences · 2019Review
- p53 induces senescence through Lamin A/C stabilization-mediated nuclear deformation.Cell death & disease · 2019Article
- MicroRNAs in hereditary and sporadic premature aging syndromes and other laminopathies.Aging cell · 2018Review
- Epigenetic clock for skin and blood cells applied to Hutchinson Gilford Progeria Syndrome andAging · 2018Article
- An overview of treatment strategies for Hutchinson-Gilford Progeria syndrome.Nucleus (Austin, Tex.) · 2018Review
- miR‑342‑5p promotes Zmpste24‑deficient mouse embryonic fibroblasts proliferation by suppressing GAS2.Molecular medicine reports · 2017Article
- Recent advances in animal and human pluripotent stem cell modeling of cardiac laminopathy.Stem cell research & therapy · 2016Review
- Article
- Hallmarks of progeroid syndromes: lessons from mice and reprogrammed cells.Disease models & mechanisms · 2016Review
- Physiological and Pathological Aging Affects Chromatin Dynamics, Structure and Function at the Nuclear Edge.Frontiers in genetics · 2016Review
- Prelamin A processing, accumulation and distribution in normal cells and laminopathy disorders.Nucleus (Austin, Tex.) · 2016Article
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Authors and funding
18 authors at 6 institutions in 3 countries.
Funding
Abstract
Premature aging syndromes are rare genetic disorders mimicking clinical and molecular features of aging. A recently identified group of premature aging syndromes is linked to mutation of the LMNA gene encoding lamins A and C, and is associated with nuclear deformation and dysfunction. Hutchinson-Gilford progeria syndrome (HGPS) was the first premature aging syndrome linked to LMNA mutation and its molecular bases have been deeply investigated. It is due to a recurrent de novo mutation leading to aberrant splicing and the production of a truncated and toxic nuclear lamin A precursor (prelamin AΔ50), also called progerin. In this work and based on the literature data, we propose to distinguish two main groups of premature aging laminopathies: (1) HGPS and HGP-like syndromes, which share clinical features due to hampered processing and intranuclear toxic accumulation of prelamin A isoforms; and (2) APS (atypical progeria syndromes), due to dominant or recessive missense mutations affecting lamins A and C. Among HGPS-like patients, several deleted prelamin A transcripts (prelamin AΔ50, AΔ35 and AΔ90) have been described. The purpose of this work was to characterize those transcripts in eight patients affected with HGP-like rare syndromes. When fibroblasts were available, the relationships between the presence and ratios of these transcripts and other parameters were studied, aiming to increase our understanding of genotype-phenotype relationships in HGPS-like patients. Altogether our results evidence that progerin accumulation is the major pathogenetic mechanism responsible for HGP-like syndromes due to mutations near the donor splice site of exon 11.
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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.