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Author

J. Delanne

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Open access Oct 2026

De novo variants in the essential splicing factor gene SRSF3 cause variable developmental phenotypes.

SRSF3 (SRp20), a member of the serine/arginine-rich protein family of splicing factors, plays a central role in constitutive and alternative splicing. The C-terminal arginine/serine-rich domain of SRSF3 undergoes dynamic phosphorylation cycles that regulate its subcellular localization, protein-protein interactions, an...

J. Lisfeld, I. Chinn, Bo Yuan et al. · 0 citations
Open access Sep 2026

Genome sequencing improves diagnostic outcomes over panel and exome sequencings in myopathies: findings from the French PFMG2025 initiative

Genome Sequencing showed GS as a valuable and feasible approach allowing the elucidation of complex variants and the discovery of new pathogenic mechanisms in the context of myopathy, as part of a large national scale GS strategy piloted by the French Genomic Medicine Initiative.

Camille Verebi, A. Maino, C. Métay et al. · 0 citations
Open access Jul 2026

Abnormal ClC-3/TMEM9-mediated endosomal ion transport in CLCN3-associated neurodevelopmental disease

The results expand the genetic and clinical spectrum of CLCN3-related disease, provide a solid basis for genetic counseling, and uncover an unexpected link between gating-associated conformational changes and inhibition by TMEM9.

Maya M. Polovitskaya, T. Tkemaladze, L. Jensen et al. · 0 citations

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