نتایج جستجو برای: seipin

تعداد نتایج: 156  

Journal: :Frontiers in Cell and Developmental Biology 2023

Lipid droplets (LDs) serve as intracellular stores of energy-rich neutral lipids. LDs form at discrete sites in the endoplasmic reticulum (ER) and they remain closely associated with ER during lipogenic growth lipolytic consumption. Their hydrophobic lipid core is covered by a monolayer phospholipids, which harbors specific set proteins. This LD surface coated stabilized perilipins, family solu...

Journal: :Seizure 2016
Roberta Opri Gian Maria Fabrizi Gaetano Cantalupo Moreno Ferrarini Alessandro Simonati Bernardo Dalla Bernardina Francesca Darra

PURPOSE A small case series with a neurodegenerative disorder involving central nervous system and related to Seipin mutations was recently reported. Herein we describe clinical and EEG features of three patients presenting with Progressive Myoclonus Epilepsy (PME) and Congenital Generalized Lipodystrophy type 2 (CGL2) related to novel Seipin mutations. METHODS The EEG-clinical picture was ev...

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