Author

G. Heimer

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Open access Aug 2026

Cross-species analysis of GNB1 I80T encephalopathy: conserved developmental, epileptic and neuronal transcriptome signatures

The integrated analysis establishes the first cross-species model for GNB1E, suggests common neurological mechanisms and molecular pathways linked to GNB1E, and provides a framework for mechanistic and therapeutic studies.

Haritha P. Reddy, Vigneshwar Ranjan, Merav Klo et al. · bioRxiv · 1 citation

Open access Aug 2026

Truncated ASXL3 Alters Chromatin Accessibility and Epigenetic Landscape in Bainbridge-Ropers Syndrome Suggesting a Gain-of-Function Etiology

The results support a dominant-negative mechanism for BRS causing truncating mutations, offering a compelling rationale for allele-specific ASO therapeutic strategy and new venues for treatment.

N. Mor, I. Shomer, S. Raviv et al. · medRxiv · 0 citations