{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,1]],"date-time":"2026-04-01T11:07:44Z","timestamp":1775041664511,"version":"3.50.1"},"reference-count":86,"publisher":"Oxford University Press (OUP)","issue":"11","license":[{"start":{"date-parts":[[2024,8,29]],"date-time":"2024-08-29T00:00:00Z","timestamp":1724889600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001691","name":"KAKENHI","doi-asserted-by":"publisher","award":["JP21K06092"],"award-info":[{"award-number":["JP21K06092"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001691","name":"KAKENHI","doi-asserted-by":"publisher","award":["JP22K06155"],"award-info":[{"award-number":["JP22K06155"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Japan Agency for Medical Research and Development Core Research for Evolutional Science and Technology","award":["JP24gm1410003"],"award-info":[{"award-number":["JP24gm1410003"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,9,30]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Cytosolic peptide: N-glycanase (PNGase\/NGLY1 in mammals) is an amidase (EC:3.5.1.52) widely conserved in eukaryotes. It catalyzes the removal of N-glycans on glycoproteins, converting N-glycosylated Asn into Asp residues. This enzyme also plays a role in the quality control system for nascent glycoproteins. Since the identification of a patient with an autosomal recessive genetic disorder caused by NGLY1 gene dysfunction, known as NGLY1 deficiency or NGLY1 congenital disorder of deglycosylation (OMIM: 615273), in 2012, more than 100 cases have been reported worldwide. NGLY1 deficiency is characterized by a wide array of symptoms, such as global mental delay, intellectual disability, abnormal electroencephalography findings, seizure, movement disorder, hypolacrima or alacrima, and liver dysfunction. Unfortunately, no effective therapeutic treatments for this disease have been established. However, administration of adeno-associated virus 9 (AAV9) vector harboring human NGLY1 gene to an NGLY1-deficient rat model (Ngly1\u2212\/\u2212 rat) by intracerebroventricular injection was found to drastically improve motor function defects. This observation indicated that early therapeutic intervention could alleviate various symptoms originating from central nervous system dysfunction in this disease. Therefore, there is a keen interest in the development of facile diagnostic methods for NGLY1 deficiency. This review summarizes the history of assay development for PNGase\/NGLY1 activity, as well as the recent progress in the development of novel plate-based assay systems for NGLY1, and also discusses future perspectives.<\/jats:p>","DOI":"10.1093\/glycob\/cwae067","type":"journal-article","created":{"date-parts":[[2024,8,29]],"date-time":"2024-08-29T12:13:43Z","timestamp":1724933623000},"source":"Crossref","is-referenced-by-count":5,"title":["Development of new NGLY1 assay systems \u2013 toward developing an early screening method for NGLY1 deficiency"],"prefix":"10.1093","volume":"34","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1909-9488","authenticated-orcid":false,"given":"Hiroto","family":"Hirayama","sequence":"first","affiliation":[{"name":"RIKEN Cluster for Pioneering Research (CPR) Glycometabolic Biochemistry Laboratory, , Riken, 2-1 Hirosawa, Wako Saitama 351-0198,","place":["Japan"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0001-6500-7823","authenticated-orcid":false,"given":"Haruhiko","family":"Fujihira","sequence":"additional","affiliation":[{"name":"RIKEN Cluster for Pioneering Research (CPR) Glycometabolic Biochemistry Laboratory, , Riken, 2-1 Hirosawa, Wako Saitama 351-0198,","place":["Japan"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1030-7631","authenticated-orcid":false,"given":"Tadashi","family":"Suzuki","sequence":"additional","affiliation":[{"name":"RIKEN Cluster for Pioneering Research (CPR) Glycometabolic Biochemistry Laboratory, , Riken, 2-1 Hirosawa, Wako Saitama 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