RT Journal Article
T1 A global analysis of the reconstitution of PTEN function by translational readthrough of PTEN pathogenic premature termination codons
A1 Luna, Sandra
A1 Torices, Leire
A1 Mingo, Janire
A1 Amo, Laura
A1 Ruiz‐Ibarlucea, Pablo
A1 Erramuzpe, Asier
A1 Cortés, Jesús M.
A1 Tejada, María I.
A1 Nunes‐Xavier, Caroline E.
A1 López, José I.
A1 Pulido, Rafael
A1 Rodríguez Escudero, María Isabel
A1 Jiménez Cid, Víctor
A1 Molina Martín, María
AB 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
YR 2021
FD 2021-05-19
LK https://hdl.handle.net/20.500.14352/94096
UL https://hdl.handle.net/20.500.14352/94096
LA eng
NO 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.
NO Norwegian Research Council
NO Ministerio de Economía y Competitividad
NO Comunidad de Madrid and European Structural and Investment Funds
DS Docta Complutense
RD 13 abr 2025