Submissions tagged with Cholesterol
(2 documents)
Mutations in the SC4MOL gene encoding a novel methyl sterol oxidase cause autosomal recessive psoriasisiform dermatitis, microcephaly and developmental delay
Disorders of cholesterol biosynthesis have clinical manifestations involving skeleton, eyes, neurologic development, and skin. We describe a patient with congenital cataracts, developmental delay, ...
Received 06 August 2008 13:32 UTC; Posted 07 August 2008
Posted to: Genetics & Genomics, Immunology
Changes in Cholesterol Metabolism in Peripheral Cells of Alzheimer Disease Patients and Their Relatives
Background. Previous epidemiological and experimental studies indicated cholesterol as a central player in Alzheimer disease (AD). Here, we utilized skin fibroblasts and PBMC as possible ex vivo m…
Received 23 October 2007 08:02 UTC; Posted 08 November 2007
Posted to: Molecular Cell Biology, Neuroscience