{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Romero-Bueno R"],"funding":["MEC | Agencia Estatal de Investigación (AEI)","Vetenskapsrådet (VR)","Vetenskapsrådet","MEC | Consejo Superior de Investigaciones Científicas (CSIC)","Cancerfonden (Swedish Cancer Society)","European Molecular Biology Organization (EMBO)","National Science Foundation (NSF)","MEC | Consejo Superior de Investigaciones Científicas","Cancerfonden","European Molecular Biology Organization","MEC | Agencia Estatal de Investigación","Novo Nordisk Fonden (NNF)","Novo Nordisk Fonden","Karolinska Institutet Doctoral Education Grant","NIH HHS","National Science Foundation"],"pagination":["5718-5746"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11574047"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["43(22)"],"pubmed_abstract":["Alterations in the nuclear envelope are linked to a variety of rare diseases termed laminopathies. A single amino acid substitution at position 12 (A12T) of the human nuclear envelope protein BAF (Barrier to Autointegration Factor) causes Néstor-Guillermo Progeria Syndrome (NGPS). This premature ageing condition leads to growth retardation and severe skeletal defects, but the underlying mechanisms are unknown. Here, we have generated a novel in vivo model for NGPS by modifying the baf-1 locus in C. elegans to mimic the human NGPS mutation. These baf-1(G12T) mutant worms displayed multiple phenotypes related to fertility, lifespan, and stress resistance. Importantly, nuclear morphology deteriorated faster during aging in baf-1(G12T) compared to wild-type animals, recapitulating an important"],"journal":["The EMBO journal"],"pubmed_title":["A human progeria-associated BAF-1 mutation modulates gene expression and accelerates aging in C. elegans."],"pmcid":["PMC11574047"],"funding_grant_id":["CEX2020-001088-M","NNF22OC0078353","PID2022-137162NB-I00","VR2023-04383","2023AEP058","PID2019-105069GB-I00","KID","SEG9276","P40 OD010440","CAREER award 1942922","23 2994 Pj","BES-2017-080216"],"pubmed_authors":["Riedel CG","Ward JD","Fragoso-Luna A","Askjaer P","Romero-Bueno R","Ayuso C","Mellmann N","Kavsek A"],"additional_accession":[]},"is_claimable":false,"name":"A human progeria-associated BAF-1 mutation modulates gene expression and accelerates aging in C. elegans.","description":"Alterations in the nuclear envelope are linked to a variety of rare diseases termed laminopathies. A single amino acid substitution at position 12 (A12T) of the human nuclear envelope protein BAF (Barrier to Autointegration Factor) causes Néstor-Guillermo Progeria Syndrome (NGPS). This premature ageing condition leads to growth retardation and severe skeletal defects, but the underlying mechanisms are unknown. Here, we have generated a novel in vivo model for NGPS by modifying the baf-1 locus in C. elegans to mimic the human NGPS mutation. These baf-1(G12T) mutant worms displayed multiple phenotypes related to fertility, lifespan, and stress resistance. Importantly, nuclear morphology deteriorated faster during aging in baf-1(G12T) compared to wild-type animals, recapitulating an important","dates":{"release":"2024-01-01T00:00:00Z","publication":"2024 Nov","modification":"2026-06-02T16:12:19.502Z","creation":"2025-04-04T11:42:53.81Z"},"accession":"S-EPMC11574047","cross_references":{"pubmed":["39367234"],"doi":["10.1038/s44318-024-00261-8"]}}