The rare mutation in the endosome-associated recycling protein gene VPS50 is associated with human neural tube defects

The rare mutation in the endosome-associated recycling protein gene VPS50 is associated with human neural tube defects

Abstract Background Tight control of endosome trafficking is essential for the generation of a normally patterned embryo. Recent studies have found that VPS50 is a key ingredient in EARP which is required for recycling of internalized TfRs to the cell surface and dense-core vesicle maturation. Howev...

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Bibliographic Details
Main Authors: Zhiwen Shi, Shuxia Chen, Xiao Han, Rui Peng, Jin Luo, Luming Yang, Yufang Zheng, Hongyan Wang
Format: Article
Language:English
Published: BMC 2019-02-01
Series:Molecular Cytogenetics
Subjects:
VPS50
EARP
WISH
Zebrafish
NTDs
Online Access:http://link.springer.com/article/10.1186/s13039-019-0421-9

Internet

http://link.springer.com/article/10.1186/s13039-019-0421-9

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