Autophagy pathway upregulation in a human iPSC-derived neuronal model of Cohen syndrome with VPS13B missense mutations

Autophagy pathway upregulation in a human iPSC-derived neuronal model of Cohen syndrome with VPS13B missense mutations

Abstract Significant clinical symptoms of Cohen syndrome (CS), a rare autosomal recessive disorder, include intellectual disability, facial dysmorphism, postnatal microcephaly, retinal dystrophy, and intermittent neutropenia. CS has been associated with mutations in the VPS13B (vacuolar protein sort...

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Bibliographic Details
Main Authors: You-Kyung Lee, Soo-Kyeong Lee, Suin Choi, Yang Hoon Huh, Ji-Hye Kwak, Yong-Seok Lee, Deok-Jin Jang, Jae-Hyung Lee, Kyungmin Lee, Bong-Kiun Kaang, Chae-Seok Lim, Jin-A Lee
Format: Article
Language:English
Published: BMC 2020-05-01
Series:Molecular Brain
Subjects:
Cohen syndrome
Autophagy
VPS13B
iPSC
Online Access:http://link.springer.com/article/10.1186/s13041-020-00611-7

Internet

http://link.springer.com/article/10.1186/s13041-020-00611-7

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