NGLY1 deficiency—A rare congenital disorder of deglycosylation-Reference-Cited by-同舟云学术

NGLY1 deficiency—A rare congenital disorder of deglycosylation

Published:2020-04-10 Issue:1 Volume:53 Page:2-9
ISSN:2192-8312
Container-title:JIMD Reports
language:en
Short-container-title:JIMD Reports

Author:

Lipari Pinto Patrícia¹^ORCID,Machado Catarina²,Janeiro Patrícia³,Dupont Juliette²,Quintas Sofia⁴,Sousa Ana Berta²,Gaspar Ana³

Affiliation:

1. Pediatric Department, Santa Maria's Hospital ‐ Lisbon North University Hospital Center EPE, Pediatric University Clinic, Faculty of Medicine, University of Lisbon Lisbon Portugal

2. Medical Genetics Department, Santa Maria's Hospital ‐ Lisbon North University Hospital Center EPE, Pediatric University Clinic, Faculty of Medicine, University of Lisbon Lisbon Portugal

3. Metabolic Diseases Unit, Pediatric Department, Santa Maria's Hospital ‐ Lisbon North University Hospital Center EPE, Pediatric University Clinic, Faculty of Medicine, University of Lisbon Lisbon Portugal

4. Neuropediatric Unit, Pediatric Department, Santa Maria's Hospital ‐ Lisbon North University Hospital Center EPE, Pediatric University Clinic, Faculty of Medicine, University of Lisbon Lisbon Portugal

Publisher

Wiley

Subject

Biochemistry, Genetics and Molecular Biology (miscellaneous),Endocrinology, Diabetes and Metabolism,Internal Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jmd2.12108

Reference15 articles.

1. Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation

2. Understanding Human Glycosylation Disorders: Biochemistry Leads the Charge

3. Clinical application of exome sequencing in undiagnosed genetic conditions

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

5. Multi-systemic involvement in NGLY1-related disorder caused by two novel mutations

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2. Development of a fluorescence and quencher-based FRET assay for detection of endogenous peptide:N-glycanase/NGLY1 activity;Journal of Biological Chemistry;2024-04

3. Quantifying Kinematic Tremor in an NGLY1-Deficient Individual: A Case Study;Case Reports in Clinical Medicine;2024

4. NGLY1 deficiency: a prospective natural history study;Human Molecular Genetics;2023-06-28

5. NGLY1 Deficiency: A Prospective Natural History Study (NHS);2023-05-14