Author

Christoph Schaniel

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#protein folding Open access Oct 2026

Molecular Consequences and Targeting of PPM1D Overexpression in Myeloproliferative Neoplasms.

Phosphatase Mg2+/Mn2+ dependent 1D protein (PPM1D) is a serine threonine phosphatase known to regulate oncogenic pathways. PPM1D mutations are enriched in therapy-related MDS and AML, but the role of PPM1D in myeloproliferative neoplasms (MPN) remains largely unexplored. By sequencing 519 MPN patients, we detected acti...

Md. Babu Mia, Christoph Schaniel, C. Clementelli et al. · Blood · 0 citations

#gene editing Open access Sep 2026

Resistance to modulation of in vivo gene expression by genomic editing

Enhancer editing is widely proposed as a strategy to modulate gene dosage therapeutically. EKLF/KLF1, a master erythroid transcription factor, is an attractive target because haploinsufficiency is benign and associated with hereditary persistence of fetal hemoglobin (HPFH). Here we test whether enhancer disruption can...

A. Planutis, Sanjana Pillay, Babu Mia et al. · Communications Biology · 0 citations