Sarah E. Gale

TL;DR: Palmitate rapidly increases the saturated lipid content of the ER, leading to compromised ER morphology and integrity, suggesting that impairment of the structure and function of this organelle is involved in the cellular response to fatty acid overload.

TL;DR: Blood concentrations of two related oxysterols molecules were almost 10 times higher in Niemann-Pick C1 patients than in age-matched healthy controls or those with other diseases such as atherosclerosis or diabetes, suggesting that the two oxysterol molecules are accurate diagnostic markers of early clinical disease and can be used not only to monitor disease progression but also to demonstrate drug efficacy.

TL;DR: These findings provide the first description of an endoplasmic reticulum trafficking defect as a mechanism for human NPC disease, shedding light on the mechanism by which the NPC1I1061T mutation causes disease and suggesting novel approaches to treat NPC disease caused by the NPC 1I10 61T mutation.

TL;DR: It is shown that the neurosteroid allopregnanolone (ALLO) and T0901317, a synthetic oxysterol ligand, act in concert to delay onset of neurological symptoms and prolong the lifespan of npc1−/− mice, suggesting that treatment with pregnane X receptor ligands may be useful clinically in delaying the progressive neurodegeneration in human NPC disease.

TL;DR: It is demonstrated that small interference RNA-mediated knockdown of AGPAT2 expression prevents appropriate early induction of C/EBPβ and PPARγ, key transcriptional activators of the adipogenic program, and delays expression of multiple adipocyte-related genes, and underscores the importance of an AGPat2-mediated metabolic pathway in adipocyte differentiation.