Bi-allelic variants in the ER quality-control mannosidase gene EDEM3 cause a congenital disorder of glycosylation

EDEM3 encodes a protein that converts Man(8)GlcNAc(2) isomer B to Man(7-5)GlcNAc(2). It is involved in the endoplasmic reticulum-associated degradation pathway, responsible for the recognition of misfolded proteins that will be targeted and translocated to the cytosol and degraded by the proteasome....

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Detalhes bibliográficos
Publicado no:Am J Hum Genet
Main Authors: Polla, Daniel L., Edmondson, Andrew C., Duvet, Sandrine, March, Michael E., Sousa, Ana Berta, Lehman, Anna, Niyazov, Dmitriy, van Dijk, Fleur, Demirdas, Serwet, van Slegtenhorst, Marjon A., Kievit, Anneke J.A., Schulz, Celine, Armstrong, Linlea, Bi, Xin, Rader, Daniel J., Izumi, Kosuke, Zackai, Elaine H., de Franco, Elisa, Jorge, Paula, Huffels, Sophie C., Hommersom, Marina, Ellard, Sian, Lefeber, Dirk J., Santani, Avni, Hand, Nicholas J., van Bokhoven, Hans, He, Miao, de Brouwer, Arjan P.M.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2021
Assuntos:
Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8322938/
https://ncbi.nlm.nih.gov/pubmed/34143952
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2021.05.010
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