N‐glycoproteomics reveals distinct glycosylation alterations in <scp>NGLY1</scp> ‐deficient patient‐derived dermal fibroblasts-Reference-Cited by-同舟云学术

N‐glycoproteomics reveals distinct glycosylation alterations in NGLY1 ‐deficient patient‐derived dermal fibroblasts

Published:2022-10-04 Issue:1 Volume:46 Page:76-91
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J of Inher Metab Disea

Author:

Budhraja Rohit¹^ORCID,Saraswat Mayank¹,De Graef Diederik²,Ranatunga Wasantha¹,Ramarajan Madan G.³⁴,Mousa Jehan²,Kozicz Tamas¹²,Pandey Akhilesh¹⁴⁵,Morava Eva¹²⁶^ORCID

Affiliation:

1. Department of Laboratory Medicine and Pathology Mayo Clinic Rochester Minnesota USA

2. Department of Clinical Genomics Mayo Clinic Rochester Minnesota USA

3. Institute of Bioinformatics International Technology Park Bangalore Karnataka India

4. Manipal Academy of Higher Education (MAHE) Manipal Karnataka India

5. Center for Individualized Medicine Mayo Clinic Rochester Minnesota USA

6. Department of Medical Genetics and Department of Biophysics University of Pecs Medical School Pecs Hungary

Funder

National Institute of Neurological Disorders and Stroke

Belgian American Educational Foundation

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jimd.12557

Reference72 articles.

1. Congenital disorders of glycosylation

2. COG6‐CDG : Novel variants and novel malformation

3. CDG nomenclature: Time for a change!

4. An international classification of inherited metabolic disorders ( ICIMD )

5. Solving Glycosylation Disorders: Fundamental Approaches Reveal Complicated Pathways

Cited by 11 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. The Urinary Glycopeptide Profile Differentiates Early Cardiorenal Risk in Subjects Not Meeting Criteria for Chronic Kidney Disease;International Journal of Molecular Sciences;2024-06-26

2. Liposome-encapsulated mannose-1-phosphate therapy improves global N-glycosylation in different congenital disorders of glycosylation;Molecular Genetics and Metabolism;2024-06

3. D-mannose as a new therapy for fucokinase deficiency-related congenital disorder of glycosylation (FCSK-CDG);Molecular Genetics and Metabolism;2024-06

4. Defining albumin as a glycoprotein with multiple N-linked glycosylation sites;Journal of Translational Medicine;2024-05-13

5. Normal transferrin glycosylation does not rule out severe ALG1 deficiency;JIMD Reports;2024-04-16