Genki Hayashi

TL;DR: Fifteen additional rare missense variants in CARD14 are described, their distribution in seven psoriasis cohorts, and their effects on NF-kB activation and the transcriptome of keratinocytes, to contribute to the understanding of the genetic basis of Psoriasis and illustrate the challenges faced in identifying pathogenic variants in common disease.

TL;DR: These results support a mechanistic hypothesis in which frataxin deficiency decreases Nrf2 expression in vivo, causing the sensitivity to oxidative stress in target tissues the DRG and the cerebella, which contributes to the process of neurodegeneration.

TL;DR: The role of oxidative stress in the five most common inherited mitochondrial diseases, Friedreich ataxia, LHON, MELAS, MERRF, and Leigh syndrome, is discussed and the strongest evidence for an oxidative stress pathomechanism among the five diseases was for FriedreICH ataxian.

TL;DR: It is shown that dimethyl fumarate dose-dependently induces mitochondrial biogenesis and function dosed to cells in vitro, and also dosed in vivo to mice and humans, making DMF the first drug demonstrated to increase mitochondrialBiogenesis with in vivo human dosing.

TL;DR: It is found that psoriasis patients are significantly more likely than controls to have gene variants that are protective against HIV-1 disease and the compound genotype KIR3DS1 plus HLA-B Bw4-80I, which respectively encode a natural killer cell activating receptor and its putative ligand, significantly increased Psoriasis susceptibility.