Urine oligosaccharide screening by MALDI-TOF for the identification of NGLY1 deficiency [PDF]
Molecular Genetics and Metabolism, 2018 Patricia L Hall +2 more
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Preclinical pharmacology and safety studies to support an AAV9 NGLY1 gene therapy clinical trial for the treatment of NGLY1 deficiency [PDF]
Molecular Therapy - Methods and Clinical DevelopmentWilliam F Mueller
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Development of new NGLY1 assay systems – toward developing an early screening method for NGLY1 deficiency [PDF]
GlycobiologyHiroto Hirayama +2 more
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NGLY1 mutations cause protein aggregation in human neurons [PDF]
Cell Reports, 2023 Sammy Weiser Novak +2 more
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Transcriptome and functional analysis in a Drosophila model of NGLY1 deficiency provides insight into therapeutic approaches [PDF]
Human Molecular Genetics, 2018 Katie G Owings +2 more
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Repurposing of Proton Pump Inhibitors as first identified small molecule inhibitors of endo-β-N-acetylglucosaminidase (ENGase) for the treatment of NGLY1 deficiency, a rare genetic disease [PDF]
Bioorganic and Medicinal Chemistry Letters, 2017 Matthew MiGHT +2 more
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JF1/B6F1 <i>Ngly1</i><sup>−/−</sup> mouse as an isogenic animal model of NGLY1 deficiency
Proceedings of the Japan Academy Series B: Physical and Biological Sciences, 2021Makoto Asahina +2 more
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Expanding the NGLY1 deficiency phenotype: Case report of an atypical patient
European Journal of Medical Genetics, 2022Daniel K Nolan, Kim L Mcbride
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Patient-derived gene and protein expression signatures of NGLY1 deficiency
Journal of Biochemistry, 2022Marcus Bantscheff +2 more
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Delineating the epilepsy phenotype of NGLY1 deficiency
Journal of Inherited Metabolic Disease, 2022Rebecca J Levy +2 more
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