Niemann-Pick Cl disease

In the very rare and fatal Niemann-Pick Cl disease lysosomes in cells of the central nervous system and the viscera accumulate LDL-derived cholesterol. Study of the DNA of patients led to discovery of a 1278-residue integral membrane protein, which may be required for the Golgi-mediated transport of unest-erified cholesterol from lysosomes to the ER.189/232 234c... [Pg.1251]

Fan M, Sidhu R, Fujiwara H, et al. Identification of Niemann-Pick Cl disease biomarkers through sphingoUpid... [Pg.106]

Cholesterol is absorbed by intestinal epithelial cells via a Niemann-Pick Cl-Like 1 (NPCILI) protein. This is the target of a number of anti-hyperhpidaemic drugs used to lower cholesterol levels. Examples include miglustafi aUopregnanolone, oxysterols and cyclodextrins all are able to slow the progress of the disease, but none as yet provides an... [Pg.81]

NPC1 Niemann-Pick disease type Cl, NPC2 Niemann-Pick disease type C2, OMIM Online Mendelian Inheritance in Man, P plasma, U urine... [Pg.352]

Horinouchi K, Erlich S, Perl DP, Ferlinz K, Bisgaier CL, Sandhoff K, Desnick RJ, Stewart CL, Schuchman EH. Acid sphingomyelinase deficient mice a model of types A and B Niemann-Pick disease. Nat Genet 1995 10(3) 288-93. [Pg.535]

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