A murine model of BSCL2-associated Celia's encephalopathy

A murine model of BSCL2-associated Celia's encephalopathy

Celia's encephalopathy or progressive encephalopathy with/without lipodystrophy is a neurodegenerative disease with a fatal prognosis in childhood. It is generally caused by the c.985C > T variant in the BSCL2 gene, leading to the skipping of exon 7 and resulting in an aberrant seipin protei...

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Main Authors: Silvia Cobelo-Gómez, Sofía Sánchez-Iglesias, Alberto Rábano, Ana Senra, Pablo Aguiar, Noemí Gómez-Lado, Lara García-Varela, Iván Burgueño-García, Laura Lampón-Fernández, Antía Fernández-Pombo, Everardo Josué Díaz-López, Teresa Prado-Moraña, Beatriz San Millán, David Araújo-Vilar
Format: Article
Language:English
Published: Elsevier 2023-10-01
Series:Neurobiology of Disease
Subjects:
BSCL2
Seipin
PELD
Transgenic mouse
Neurodegeneration
Celia's encephalopathy
Online Access:http://www.sciencedirect.com/science/article/pii/S0969996123003157

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http://www.sciencedirect.com/science/article/pii/S0969996123003157

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