A congenital disorder of deglycosylation: Biochemical characterization ofN-glycanase 1 deficiency in patient fibroblasts

NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy

(2015) Ahmet Okay Caglayan et al.   European Journal of Medical Genetics

Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum–associated degradation pathway

(2014) Gregory M. Enns et al.   GENETICS IN MEDICINE

Deglycosylation-dependent fluorescent proteins provide unique tools for the study of ER-associated degradation

(2013) Jeff E. Grotzke et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

DDOST Mutations Identified by Whole-Exome Sequencing Are Implicated in Congenital Disorders of Glycosylation

(2012) Melanie A. Jones et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A plant peptide: N-glycanase orthologue facilitates glycoprotein ER-associated degradation in yeast

(2012) Yuki Masahara-Negishi et al.   BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS

Sense from nonsense: therapies for premature stop codon diseases

(2012) Laure Bidou et al.   TRENDS IN MOLECULAR MEDICINE

A Cell-Based High-Content Screening Assay Reveals Activators and Inhibitors of Cancer Cell Invasion

(2011) M. Quintavalle et al.   Science Signaling

Evidence for an Essential Deglycosylation-Independent Activity of PNGase in Drosophila melanogaster

(2010) Yoko Funakoshi et al.   PLoS One

Molecular identification and characterization of peptide: N-glycanase from Schizosaccharomyces pombe

(2008) Fengxue Xin et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS