| 概要 |
Progressive encephalopathy with or without lipodystrophy (PELD) is an early onset, fatal neurodegenerative syndrome involving the cerebral cortex and basal ganglia. It has been reported that mutations in BSCL2 cause PELD. BSCL2 encodes the protein seipin, which is highly expressed in the brain. The function of seipin is incompletely understood. Thus, some studies indicate a role for the protein in adipogenesis, lipid metabolism, and lipid droplet biogenesis, while others have shown a potential neural involvement.
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| 著者 |
Guillen-Navarro E, Sanchez-Iglesias S, Domingo-Jimenez R, Victoria B, Ruiz-Riquelme A, Rabano A, Loidi L, Beiras A, Gonzalez-Mendez B, Ramos A, Lopez-Gonzalez V, Ballesta-Martinez MJ, Garrido-Pumar M, Aguiar P, Ruibal A, Requena JR, Araujo-Vilar D |
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