Article

Loss of cholesterol in Junctional Epidermolysis Bullosa skin identifies a key role for Laminin-332 in actomyosin mediated cholesterol transport

2023-09-11

Abstract excerpt

Individuals with Junctional Epidermolysis Bullosa (JEB), a rare genetic skin disease characterised by loss of function mutations in the Laminin332 (Lam332), do not survive beyond their first birthday. Here we report that loss of Lam332 leads to absence of cholesterol lipid from the epidermis in vitro and in vivo . Using 3D skin equivalents, a JEB mouse model and JEB patient samples we confirmed changes in epider...

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Literature Corpus work: 72f078d7-a5d9-5ca4-8ba0-02ac33c4b0a8
DOI: 10.1101/2023.09.10.557030

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