Article
LIPE-related lipodystrophic syndrome: clinical features and disease modeling using adipose stem cells.
European journal of endocrinology - 1 Jan 2021
Sollier Camille, Capel Emilie, Aguilhon Caroline, Smirnov Vasily, Auclair Martine, Douillard Claire, Ladsous Miriam, Defoort-Dhellemmes Sabine, Gorwood Jennifer, Braud Laura, Motterlini Roberto, Vatier Camille, Lascols Olivier, Renard Eric, Vigouroux Corinne, Jéru Isabelle
Abstract excerpt
OBJECTIVE: The term Multiple Symmetric Lipomatosis (MSL) describes a heterogeneous group of rare monogenic disorders and multifactorial conditions, characterized by upper-body adipose masses. Biallelic variants in LIPE encoding hormone-sensitive lipase (HSL), a key lipolytic enzyme, were implicated in three families worldwide. We aimed to further delineate LIPE-related clinical features and pathophysiological...
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