1.
Stem Cell Res
; 39: 101496, 2019 08.
Article
in English
| MEDLINE
| ID: mdl-31326749
ABSTRACT
NGLY1 deficiency is a rare inherited disorder caused by mutations in the NGLY1 gene encoding N-glycanase 1 that is a hydrolase for N-linked glycosylated proteins. An induced pluripotent stem cell (iPSC) line was generated from the dermal fibroblasts of a 16-year-old patient with homozygous mutation of p.R401X (c.1201 A>T) in the NGLY1 gene. Our iPSC model offers a useful resource to study the disease pathophysiology and to develop therapeutics for treatment of NGLY1 patients.
Subject(s)
Congenital Disorders of Glycosylation/genetics , Induced Pluripotent Stem Cells/cytology , Induced Pluripotent Stem Cells/metabolism , Peptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine Amidase/deficiency , Adolescent , Cells, Cultured , Flow Cytometry , Homozygote , Humans , Karyotyping , Microsatellite Repeats/genetics , Mutation , Peptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine Amidase/genetics
2.
Nat Genet
; 50(4): 474-476, 2018 04.
Article
in English
| MEDLINE
| ID: mdl-29632381