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

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. However, the...

Descripción completa

Detalles Bibliográficos
Autores principales: Shi, Zhiwen, Chen, Shuxia, Han, Xiao, Peng, Rui, Luo, Jin, Yang, Luming, Zheng, Yufang, Wang, Hongyan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6381738/
https://www.ncbi.nlm.nih.gov/pubmed/30828385
http://dx.doi.org/10.1186/s13039-019-0421-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6381738/
https://www.ncbi.nlm.nih.gov/pubmed/30828385
http://dx.doi.org/10.1186/s13039-019-0421-9

Ejemplares similares