Congenital brain anomalies in distal cholesterol biosynthesis defects.
Cholesterol is known to be a significant constituent of the central nervous system. It also plays an important role in developmental pathways to form the human brain, such as the Sonic Hedgehog pathway. Disturbances in the formation of cholesterol may therefore be expected to cause brain malformations and brain dysfunctions. Here a short review of the consequences of defects of the distal cholesterol pathways to brain formation and functioning is provided.
Hennekam
R C M
RC
Department of Pediatrics and Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands. r.c.hennekam@amc.uva.nl
D001921:Brain / Q000002:abnormalities*; D020739:Brain Diseases, Metabolic, Inborn / Q000235:genetics* / Q000473:pathology*; D002784:Cholesterol / Q000096:biosynthesis*; D002806:Chondrodysplasia Punctata / Q000235:genetics / Q000378:metabolism; D006801:Humans; D019082:Smith-Lemli-Opitz Syndrome / Q000235:genetics / Q000473:pathology; D013261:Sterols / Q000378:metabolism
D013261:Sterols; D002784:Cholesterol