Smrithi Prem, Bharati Dev ... Emanuel DiCicco-Bloom
Alterations in mTOR signaling drive similar dysregulations in the critical mid-fetal neurodevelopmental processes of neurite outgrowth and cell migration in two distinct subsets of autism, idiopathic and 16p11.2 deletion.
Structural characterization of human RPA70N association with a series of DNA damage response proteins reveals versatile protein interaction mechanisms that help to recruit DNA repair proteins to the damage site quickly and efficiently.
hRPA permits the BLM helicase to bidirectionally unwind DNA from a nick which could potentially facilitate its function switching in DNA repair and promote end resection in homologous recombination.
Ute I Scholl, Gabriel Stölting ... Richard P Lifton
A novel Mendelian disease featuring early-onset hypertension is caused by a recurrent gain of function mutation in CACNA1H, which encodes the voltage-gated calcium channel Cav3.2.
Simone Lieb, Silvia Blaha-Ostermann ... Simon Wöhrle
Targeting Werner syndrome helicase might constitute a novel opportunity for the treatment of a clinically defined subset of patients harboring MSI-H/MMR-deficient tumors.
Annina Denoth-Lippuner, Marek Konrad Krzyzanowski ... Yves Barral
The SAGA complex binds non-chromosomal DNA circles and prevents their spreading by attaching them to nuclear pores, thereby leading to the concomitant accumulation of DNA circles and pores in ageing yeast mother cells.