Lifelong HAO1 knockout was safe and without clinical phenotype in an identified healthy woman, de-risking a rare disease therapeutic approach through the power of naturally occurring human genetic variation.
A SWI/SNF-family chromatin remodeling subcomplex from yeast is identified (RSC1) that is specialized to slide nucleosomes residing on DNA sequences that confer partial nucleosome unwrapping, with assistance from accessory factors.
Heme accumulation is toxic, but deficiency of the heme transporter HRG1/SLC48A1 causes heme sequestration and crystallization into hemozoin within enlarged lysosomes of macrophages, thereby conferring heme tolerance to mammals.
A combination of in vitro and in vivo experiments demonstrate a cell-autonomous role of the KIT ligand/KIT signaling pathway in protecting retinal photoreceptor cells from environmentally or genetically caused degeneration.
The structure-based design established a new approach to control pathway-selective activation of opioid receptors, resulting in new dual MOR/KOR G-protein biased agonist analgesics with attenuated liabilities.
Regenerating neural progenitors of the Xenopus tropicalis tail prioritize differentiation to motor neuron types earlier than proliferation, a decision partly regulated by the transcription factors Pbx3 and Meis1.
Eph receptor signaling commonly excludes migrating embryonic cells from regions of high ligand density; however, in sea urchin embryos pigmented immunocytes are attracted to regions expressing high levels of Ephrin.