Multi-systemic involvement in NGLY1-related disorder caused by two novel mutations-Reference-Cited by-同舟云学术

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

Published:2015-02-23 Issue:4 Volume:167 Page:816-820
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Heeley Jennifer¹,Shinawi Marwan¹

Affiliation:

1. Department of Pediatrics; Division of Genetics and Genomic Medicine; Washington University School of Medicine; St. Louis MO

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference9 articles.

1. NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy;Caglayan;Eur J Med Genet,2014

2. The skeletal manifestations of the congenital disorders of glycosylation;Coman;Clin Genet,2008

3. Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway;Enns;Genet Med,2014

4. Understanding human glycosylation disorders: Biochemistry leads the charge;Freeze;J Biol Chem,2013

5. NMR characterization of the interaction between the PUB domain of peptide: N-glycanase and ubiquitin-like domain of HR23;Kamiya;FEBS Lett,2012

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1. Functional prediction of the potential NGLY1 mutations associated with rare disease CDG;Heliyon;2024-04

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

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

4. NGLY1 deficiency: estimated incidence, clinical features, and genotypic spectrum from the NGLY1 Registry;Orphanet Journal of Rare Diseases;2022-12-17

5. Comparative proteomics reveals elevated CCN2 in NGLY1-deficient cells;Biochemical and Biophysical Research Communications;2022-12

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