Article
Metabolic and pathologic profiles of human LSS deficiency recapitulated in mice.
PLoS genetics - 1 Feb 2020
Wada Yoichi, Kikuchi Atsuo, Kaga Akimune, Shimizu Naoki, Ito Junya, Onuma Ryo, Fujishima Fumiyoshi, Totsune Eriko, Sato Ryo, Niihori Tetsuya, Shirota Matsuyuki, Funayama Ryo, Sato Kota, Nakazawa Toru, Nakayama Keiko, Aoki Yoko, Aiba Setsuya, Nakagawa Kiyotaka, Kure Shigeo
Abstract excerpt
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 been reported in families with congenital cataracts and, very recently, have been reported in cases of hypotrichosis....
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