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Author

R. Rabionet

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#gene editing Open access Oct 2026

Generation and Characterization of an Osteoclastic Cell Model of Gaucher’s Bone Disease

Gaucher disease (GD) is caused by recessive mutations in the GBA1 gene (Glucosylceramidase beta 1) generating lysosomal accumulation of glucosylceramides. Bone phenotypes related to GD include Erlenmeyer flask deformity, osteosclerosis, osteonecrosis, osteopenia, and bone pain. Lysosomes modulate osteoclast differentia...

J. Patiño-Salazar, J. D. Gutiérrez-Ávila, S. Heredero-Jiménez et al. · 0 citations
Open access Jul 2026

De novo missense variants in TRIM28 identified in individuals with neurodevelopmental delay show features of transposable element activation

This study describes two patients with neurodevelopmental delay who carry de novo TRIM28 missense variants and demonstrates that these variants result in the loss of the histone mark H3K9me3 over TEs, establishing a link between TRIM28 variants and neurodevelopmental delay.

Laura Castilla-Vallmanya, Ninoslav Pandiloski, Carrie Davis-Hansson et al. · 0 citations

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