Results 111 to 120 of about 6,914 (144)

The impact of sphingomyelin on the pathophysiology and treatment response to olipudase alfa in acid sphingomyelinase deficiency. [PDF]

Genet Med Open
Kumar M, Aguiar M, Jessel A, Thurberg BL, Underhill L, Wong H, George K, Davidson V, Schuchman EH.   +8 more
europepmc   +1 more source

Subtle cellular phenotypes inform pathological and benign genetic mutants in the Iduronate-2 sulfatase gene. [PDF]

Hum Mol Genet
Viswanathan A, Elia S, Le SQ, Hurt S, Doray B, Waligorski J, Kelley K, Buchser W, Dickson P.   +8 more
europepmc   +1 more source

Hepatic Steatosis: A Presentation of Cholesteryl Ester Storage Disease. [PDF]

ACG Case Rep J
Lee A, Raasikh T, Bangaru S, Yano S, Chopra S, Saito T.   +5 more
europepmc   +1 more source

Different concentrations of 2-Undecanone triggers repellent and nematicidal responses in Caenorhabditis elegans. [PDF]

Sci Rep
Dai W, Zhai Y, Yang F, Chen W, Liu C, Tian Y, Huang F, Cai M, Zheng L, Cheng W, Chen W, Zhang J.   +11 more
europepmc   +1 more source

Assessment of bis(monoacylglycerol)phosphate isomers by thin layer chromatography using a modified solvent system. [PDF]

Biochem Biophys Rep
Abe A, Hinkovska-Galcheva V, Shayman JA.
europepmc   +1 more source

DIS3L2-mediated RNA surveillance and extracellular vesicle packaging prevent innate immune activation by aberrant cellular RNAs. [PDF]

Proc Natl Acad Sci U S A
Williams SG, Sim S, Guiblet WM, George J, Jones JC, Wolin SL.   +5 more
europepmc   +1 more source

Phosphatidylserine transporters ORP5 and ORP8 control cholesterol trafficking from the plasma membrane to the endoplasmic reticulum. [PDF]

J Lipid Res
Xiao FN, Norris DM, Yang G, Li YE, Brown AJ, Yang H.   +5 more
europepmc   +1 more source

Discovery of broadly-neutralizing antibodies against brown recluse spider and Gadim scorpion sphingomyelinases using consensus toxins as antigens. [PDF]

Protein Sci
Rivera-de-Torre E, Lampadariou S, Møiniche M, Bohn MF, Kazemi SM, Laustsen AH.   +5 more
europepmc   +1 more source

Evolution of a Pyroptosis-Apoptosis crosstalk drives non-canonical inflammasome signalling

Grant S, Nicholson E, Chen ZHX, Robson C, Sung A, Viswanathan B, Chang Y, Patel P, Kleppen JP, Ozdenya T, Chen KW, Spicer CD, Boucher D.   +12 more
europepmc   +1 more source