title: Quantitative proteomics analysis of inborn errors of cholesterol synthesis: identification of altered metabolic pathways in DHCR7 and SC5D deficiency.
authors.affiliation: NICHD, National Institutes of Health, United States Department of Health and Human Services, Bethesda, Maryland 20892, USA. jiangx@mail.nih.gov
authors.forename: Xiao-Sheng
authors.initials: XS
authors.lastname: Jiang
authors.forename: Peter S
authors.initials: PS
authors.lastname: Backlund
authors.forename: Christopher A
authors.initials: CA
authors.lastname: Wassif
authors.forename: Alfred L
authors.initials: AL
authors.lastname: Yergey
authors.forename: Forbes D
authors.initials: FD
authors.lastname: Porter
mesh_terms: D000818:Animals; D001921:Brain / Q000201:enzymology; D053148:Caspase 3 / Q000378:metabolism; D002784:Cholesterol / Q000096:biosynthesis* / Q000737:chemistry / Q000378:metabolism; D004789:Enzyme Activation; D005260:Female; D053858:Metabolic Networks and Pathways / Q000235:genetics*; D008798:Mevalonic Acid / Q000378:metabolism; D051379:Mice; D018345:Mice, Knockout; D008969:Molecular Sequence Data; D015394:Molecular Structure; D044925:Oxidoreductases Acting on CH-CH Group Donors / Q000172:deficiency* / Q000235:genetics; D040901:Proteomics / Q000379:methods*; D019082:Smith-Lemli-Opitz Syndrome / Q000235:genetics* / Q000378:metabolism* / Q000473:pathology; D019032:Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization / Q000379:methods; D020691:rab GTP-Binding Proteins / Q000378:metabolism; D020696:rab5 GTP-Binding Proteins / Q000378:metabolism; D000090802:rab7 GTP-Binding Proteins
chemical_list: C033144:lathosterol delta-5-dehydrogenase; D000090802:rab7 GTP-Binding Proteins; C000716463:rab7 GTP-binding proteins, human; C000716465:rab7 GTP-binding proteins, mouse; C001521:lathosterol; D002784:Cholesterol; D044925:Oxidoreductases Acting on CH-CH Group Donors; C019995:7-dehydrocholesterol reductase; D053148:Caspase 3; D020691:rab GTP-Binding Proteins; D020696:rab5 GTP-Binding Proteins; D008798:Mevalonic Acid