2026-06-27T11:04:14Zhttps://docta.ucm.es/rest/oai/request
oai:docta.ucm.es:20.500.14352/940962025-05-09T23:50:59Zcom_20.500.14352_14col_20.500.14352_15
Docta Complutense author Luna, Sandra author Torices, Leire author Mingo, Janire author Amo, Laura author Rodríguez Escudero, María Isabel author Ruiz‐Ibarlucea, Pablo author Erramuzpe, Asier author Cortés, Jesús M. author Tejada, María I. author Molina Martín, María author Nunes‐Xavier, Caroline E. author López, José I. author Jiménez Cid, Víctor author Pulido, Rafael 2024-01-19T14:08:14Z 2024-01-19T14:08:14Z 2021 Luna S, Torices L, Mingo J, Amo L, Rodríguez‐Escudero I, Ruiz‐Ibarlucea P, et al. A global analysis of the reconstitution of PTEN function by translational readthrough of PTEN pathogenic premature termination codons. Human Mutation 2021;42:551–66. https://doi.org/10.1002/humu.24186. 1098-1004 10.1002/humu.24186 https://hdl.handle.net/20.500.14352/94096 https://doi.org/10.1002/humu.24186 The PTEN tumor suppressor gene is mutated with high incidence in tumors and in thegermline of patients with cancer predisposition or with macrocephaly associatedwith autism.PTENnonsense mutations generating premature termination codons (PTC)and producing nonfunctional truncated PTEN proteins are frequent in association withhuman disease. However, there are no studies addressing the restoration of full‐lengthPTEN proteins from the PTC‐mutatedPTENgene by translational readthrough. Here,we have performed a global translational and functional readthrough analysis of thecomplete collection ofPTENPTC somatic or hereditary mutations found in tumors or inthegermlineofpatients(disease‐associated PTEN PTCome), and we set standards forthe analysis of the potential of readthrough functional reconstitution in disease‐relevant genes. Our analysis indicates that prevalent pathogenicPTENPTC mutationsare susceptible to PTEN functional restoration in response to readthrough‐inducingcompounds. Comprehensive readthrough analyses of disease‐associated PTComes willbe valuable tools for the implementation of readthrough‐based precision interventionsin specific groups of patients eng A global analysis of the reconstitution of PTEN function by translational readthrough of PTEN pathogenic premature termination codons journal article 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URL https://docta.ucm.es/bitstreams/30771580-0210-43b0-98c6-e8542a507e2a/download File MD5 1efbf638d3036784519c3516c95a8006 2925452 application/pdf Reconstitution_of_PTEN_function.pdf URL https://docta.ucm.es/bitstreams/392380f9-c40e-470d-90ed-2a38716d50c0/download File MD5 4d11bcaaff0ff7811f5dea6df2b5af3a 96021 text/plain Pten2021.pdf.txt