Metabolic and Pathologic Profiles of Human LSS Deficiency Recapitulated in Mice

    February 2020 in “ PLOS genetics ”
    Yoichi Wada, Atsuo Kikuchi, Akimune Kaga … Shigeo Kure
    Studysummary This study found that biallelic LSS mutations lead to congenital hypotrichosis and cataracts, with each tissue-specific loss of function observed in mouse models.
    Automatically generated from the study's abstract, not written by a person, and not a review of the full paper. Not medical advice or a treatment recommendation. Read the original study, and consult a qualified healthcare professional before changing treatment. Full disclaimer
    Read the full study on journals.plos.org →
    Discuss this study in the Community →

    Research cited in this study 3

    1. Bi-Allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex American journal of human genetics · 2018
    2. Hair Growth Defects in Insig-Deficient Mice Caused by Cholesterol Precursor Accumulation and Reversed by Simvastatin ˜The œjournal of investigative dermatology/Journal of investigative dermatology · 2010
    3. Isolation and Short-Term Culture of Primary Keratinocytes, Hair Follicle Populations, and Dermal Cells from Newborn Mice and Keratinocytes from Adult Mice for In Vitro Analysis and Grafting to Immunodeficient Mice Nature Protocols · 2008