ELISA-based highly sensitive assay system for the detection of endogenous NGLY1 activity

Fujihira, Haruhiko; Sato, Keiko; Nishiuchi, Yuji; Murase, Takefumi; Matsuda, Yuka; Yoshida, Yukiko; Kamei, Takayuki; Suzuki, Tadashi

doi:10.1016/j.bbrc.2024.149826

Biochemical and Biophysical Research Communications

2024

DOI: 10.1016/j.bbrc.2024.149826

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ELISA-based highly sensitive assay system for the detection of endogenous NGLY1 activity

Haruhiko Fujihira,

Keiko Sato,

Yuji Nishiuchi

et al.

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Development of new NGLY1 assay systems – toward developing an early screening method for NGLY1 deficiency

Hirayama,

Fujihira,

Suzuki

2024

Glycobiology

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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 −/− 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.

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Development of new NGLY1 assay systems – toward developing an early screening method for NGLY1 deficiency

Hirayama,

Fujihira,

Suzuki

2024

Glycobiology

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show abstract

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ELISA-based highly sensitive assay system for the detection of endogenous NGLY1 activity

Cited by 1 publication

References 28 publications

Development of new NGLY1 assay systems – toward developing an early screening method for NGLY1 deficiency

Development of new NGLY1 assay systems – toward developing an early screening method for NGLY1 deficiency

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