Hideji Fujiwara

TL;DR: The development of a sensitive and specific LC-MS/MS method for quantifying 3β,5α,6β-triol and 7-KC human plasma after derivatization with N,N-dimethylglycine is described, offering for the first time a noninvasive, rapid, and highly sensitive method for diagnosis of NPC1 disease.

TL;DR: Dopaminergic neurons were generated from iPSC lines derived from patients with Gaucher disease with and without parkinsonism, suggesting that noninhibitory small-molecule chaperones of glucocerebrosidase may prove useful for the treatment of Parkinson disease.

TL;DR: This study investigated the intersection between TLR4-mediated inflammatory signaling and saturated fatty acids with regard to ceramide generation and found that palmitate up-regulates ceramide synthesis through a non-transcriptional mechanism.

TL;DR: Evidence that hyperuricaemia per se could have deleterious metabolic sequelae is provided and that enterocytes may regulate whole-body metabolism is suggested, suggesting that enterocyte urate metabolism could potentially be targeted to modulate or prevent metabolic syndrome.

TL;DR: It is found that MSDC‐0602 prevented and reversed liver fibrosis and suppressed expression of markers of stellate cell activation in livers of mice fed a diet rich in trans‐fatty acids, fructose, and cholesterol.