Ignacio Blanco

NF2 lacking exon 11 isoform induced by antisense gene therapy is able to recover partially merlin deficiency on NF2-related Schwannomatosis iPSC-derived spheroid model

This study shows that antisense gene therapy using PMOs can induce exon 11 skipping in NF2-deficient Schwann cells, partially restoring merlin function and key pathways in a spheroid model of NF2-SWN.

Identification of Malignant Peripheral Nerve Sheath Tumor subtypes with distinct genomic identities

This paper identifies three distinct molecular subtypes of MPNSTs with unique genomic features and progression paths, offering a framework for improved diagnosis and treatment.

Characterization of snRNA-related neurodevelopmental disorders through the Spanish Undiagnosed Rare Disease Programs

The paper identifies de novo pathogenic variants in snRNA genes causing neurodevelopmental disorders in patients from the Spanish URD Programs.

iPSC-derived NF1-CDKN2A-PRC2 deficient neural crest mimics MPNST glial-to-neuro-mesenchymal transition and uncover new therapeutic opportunities

This paper uses iPSC-derived neural crest models to mimic MPNST progression and identifies PARPi as a potential therapy for PRC2-deficient tumors.

A detailed landscape of genomic alterations in malignant peripheral nerve sheath tumor cell lines challenges the current MPNST diagnosis

This paper analyzes genomic alterations in MPNST cell lines to challenge their current diagnosis, finding significant differences between NF1-related and sporadic lines.

Antisense oligonucleotides targeting exon 11 are able to partially rescue the Neurofibromatosis Type 2 phenotype in vitro

This study shows that antisense oligonucleotides targeting exon 11 can partially rescue the NF2 phenotype in vitro by inducing a hypomorphic Merlin isoform.

Revisiting the UK Genetic Severity Score for NF2: a proposal for adding functional information

The paper validates the UK NF2 Genetic Severity Score in a Spanish cohort and proposes a revised version incorporating functional assays to improve prediction of clinical outcomes for mild and moderate phenotypes.