Delineating the epilepsy phenotype of <scp>NGLY1</scp> deficiency-Reference-Cited by-同舟云学术

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Delineating the epilepsy phenotype of NGLY1 deficiency

Published:2022-03-11 Issue:3 Volume:45 Page:571-583
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J of Inher Metab Disea

Author:

Levy Rebecca J.¹²^ORCID,Frater Christina H.¹,Gallentine William B.¹,Phillips Jennifer M.³,Ruzhnikov Maura R.¹²^ORCID

Affiliation:

1. Department of Child Neurology Lucile Packard Children's Hospital, Stanford University Stanford California USA

2. Department of Medical Genetics Lucile Packard Children's Hospital, Stanford University Stanford California USA

3. Department of Child and Adolescent Psychiatry Lucile Packard Children's Hospital, Stanford University Stanford California USA

Funder

Grace Science Foundation

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jimd.12494

Reference32 articles.

1. A congenital disorder of deglycosylation: Biochemical characterization ofN-glycanase 1 deficiency in patient fibroblasts

2. Inhibition of NGLY1 Inactivates the Transcription Factor Nrf1 and Potentiates Proteasome Inhibitor Cytotoxicity

3. Endo-β-N-acetylglucosaminidase forms N-GlcNAc protein aggregates during ER-associated degradation in Ngly1-defective cells

4. Integrated transcriptome analysis across mitochondrial disease etiologies and tissues improves understanding of common cellular adaptations to respiratory chain dysfunction

Cited by 9 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. Ocular features of NGLY1 deficiency from a prospective longitudinal cohort;Journal of American Association for Pediatric Ophthalmology and Strabismus;2024-06

2. Intranasal oxytocin suppresses seizure-like behaviors in a mouse model of NGLY1 deficiency;Communications Biology;2024-04-22

3. NGLY1: A fascinating, multifunctional molecule;Biochimica et Biophysica Acta (BBA) - General Subjects;2024-02

4. Shedding light on NGLY1 deficiency: a call for awareness and support;Journal of Rare Diseases;2023-11-09

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

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