Author/Authors :
Gail E. Herman، نويسنده ,
Title Of Article :
X-Linked dominant disorders of cholesterol biosynthesis in man and mouse
Latin Abstract :
The X-linked dominant male-lethal mouse mutations tattered and bare patches are homologous to human X-linked dominant chondrodysplasiapunctata and CHILD syndrome, rare human skeletal dysplasias. These disorders also affect the skin and can cause cataracts and microphthalmia in surviving, affected heterozygous females. They have recently been shown to result from mutations in genes encoding enzymes involved in sequential steps in the conversion of lanosterol to cholesterol. This review will summarize clinical features of the disorders and describe recent biochemical and molecular investigations that have resulted in the elucidation of the involved genes and their metabolic pathway. Finally, speculations about possible mechanisms of pathogenesis will be provided.
NaturalLanguageKeyword :
Tattered , Bare patch , X-Linked , Chondrodysplasia punctata , Congenital hemidysplasia with ichthyosiform erythroderma and limb defects syndrome , Cholesterol biosynthesis
JournalTitle :
Studia Iranica
