From rare familial mutations to multifactorial disease: aldo-keto reductase 1C enzymes as a central biological pathway in lipedema

The discovery of pathogenic variants in AKR1C1 and AKR1C2 in ultra-rare familial lipedema highlights steroid hormone metabolism as a core mechanism affecting about 11% of women during reproductive age. Lipedema represents a complex disease shaped by the interplay between rare mutations, common regul...

ver descrição completa

Detalhes bibliográficos

Principais autores:	Daniil Vainberg, Jurgen Kaftalli, Luca Ferrari, Kristjana Dhuli, Beatrice Della Frera, Dominika Veselenyiova, Ahmad Jainul Abidin, Serena Michelni, Silvia Michelni, Sandro Michelni, Matteo Bertelli
Formato:	Artigo
Idioma:	Inglês
Publicado em:	PAGEPress Publications 2026-04-01
coleção:	Veins and Lymphatics
Assuntos:	Lipedema AKR1C1 AKR1C2 steroid metabolism obesogens
Acesso em linha:	https://www.pagepressjournals.org/vl/article/view/15495
Tags:	Adicionar Tag Sem tags, seja o primeiro a adicionar uma tag!