Metabolic and pathologic profiles of human LSS deficiency recapitulated in mice.

Metabolic and pathologic profiles of human LSS deficiency recapitulated in mice.

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 r...

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Bibliographic Details
Main Authors: Yoichi Wada, Atsuo Kikuchi, Akimune Kaga, Naoki Shimizu, Junya Ito, Ryo Onuma, Fumiyoshi Fujishima, Eriko Totsune, Ryo Sato, Tetsuya Niihori, Matsuyuki Shirota, Ryo Funayama, Kota Sato, Toru Nakazawa, Keiko Nakayama, Yoko Aoki, Setsuya Aiba, Kiyotaka Nakagawa, Shigeo Kure
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2020-02-01
Series:PLoS Genetics
Online Access:https://doi.org/10.1371/journal.pgen.1008628

Internet

https://doi.org/10.1371/journal.pgen.1008628

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