Metabolic and pathologic profiles of human LSS deficiency recapitulated in mice
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DOI: 10.1371/journal.pgen.1008628
Abstract: Skin lesions, cataracts, and congenital anomalies have been frequently associated with inherited deficiencies in enzymes that synthesize cholesterol. Lanosterol synthase (LSS) converts (S)-2,3-epoxysqualene to lanosterol in the cholesterol biosynthesis pathway. Biallelic mutations in LSS have… read more here.
Keywords: hypotrichosis; lss deficiency; mice; lss ... See more keywords