Author

Juraj Kabat

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#gene editing Open access Oct 2026

MATRIN3 deficiency in human cells triggers an autoinflammatory response via cGAS-STING activation.

MATRIN3 (MATR3) is a broadly expressed nuclear RNA-binding protein. However, the mechanisms by which MATR3 maintains human cellular health remain poorly understood. In this study, we employed gene editing to model MATR3 deficiency in human induced pluripotent stem cells (iPSCs) and the HAP1 haploid cell line. To invest...

Zohirul Islam, A. Polash, Colin L. Sweeney et al. · Proceedings of the National... · 0 citations

Open access Aug 2026

Novel gain-of-function mutation in dysferlin causes vesicle trafficking defect and IL-1 mediated autoinflammation

Dysferlin is identified as a regulator of membrane homeostasis in myeloid cells, defective membrane-stress adaptation as trigger of NLRP3 inflammasome activation is established, and a novel IL-1 mediated autoinflammatory disease caused by gain-of-function DYSF mutations is defined.

Farzana Bhuyan, Clinton J. Bradfield, Amitava Roy et al. · medRxiv · 0 citations