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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2020
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7062289/
https://www.ncbi.nlm.nih.gov/pubmed/32101538
http://dx.doi.org/10.1371/journal.pgen.1008628

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