Celia’s Encephalopathy (<i>BSCL2</i>-Gene-Related): Current Understanding

Celia’s Encephalopathy (<i>BSCL2</i>-Gene-Related): Current Understanding

Seipin, encoded by the <i>BSCL2</i> gene, is a protein that in humans is expressed mainly in the central nervous system. Uniquely, certain variants in <i>BSCL2</i> can cause both generalized congenital lipodystrophy type 2, upper and/or lower motor neuron diseases, or progres...

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Bibliographic Details
Main Authors: Sofía Sánchez-Iglesias, Antía Fernández-Pombo, Silvia Cobelo-Gómez, Álvaro Hermida-Ameijeiras, Helena Alarcón-Martínez, Rosario Domingo-Jiménez, Alejandro Iván Ruíz Riquelme, Jesús R. Requena, David Araújo-Vilar
Format: Article
Language:English
Published: MDPI AG 2021-04-01
Series:Journal of Clinical Medicine
Subjects:
Celia’s encephalopathy
PELD
seipin
<i>BSCL2</i>
congenital generalized lipodystrophy
neurodegeneration
Online Access:https://www.mdpi.com/2077-0383/10/7/1435

Internet

https://www.mdpi.com/2077-0383/10/7/1435

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