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

EDEM3 encodes a protein that converts Man8GlcNAc2 isomer B to Man7-5GlcNAc2. 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. In this...

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Veröffentlicht in:	American journal of human genetics 2021-07, Vol.108 (7), p.1342-1349
Hauptverfasser:	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.
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Alleles alpha-Mannosidase - deficiency alpha-Mannosidase - genetics Calcium-Binding Proteins - deficiency Calcium-Binding Proteins - genetics CDG Cell Line Child Child, Preschool Congenital Disorders of Glycosylation - blood Congenital Disorders of Glycosylation - genetics Developmental Disabilities - genetics dysmorphism EDEM3 Endoplasmic Reticulum - genetics Female Glycoproteins - blood Glycosylation high-mannose Humans Infant Intellectual Disability - genetics Life Sciences Male Mannosidase mouse Mutation N-glycan Pedigree Polysaccharides - blood Proteostasis Deficiencies - genetics UPR
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