Impaired Proteostasis is Linked to Neurological Pathology in a Zebrafish NGLY1 Deficiency Model. [PDF]
J Inherit Metab DisABSTRACTNGLY1 is a key enzyme in the process of misfolded protein deglycosylation. Bi‐allelic pathogenic variants in NGLY1 cause N‐glycanase deficiency, also known as congenital disorder of deglycosylation (NGLY1‐CDDG). This rare and multisystem autosomal recessive disorder is linked to a variable phenotype of global developmental delay, neuromuscular ...
Mesika A +8 more
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Structural and Functional Characterization of N-Glycanase-1 Pathogenic Variants [PDF]
CellsNGLY1 deficiency is a congenital disorder of deglycosylation, caused by pathogenic variants of the NGLY1 gene. It manifests as global developmental delay, hypo- or alacrima, hypotonia, and a primarily hyperkinetic movement disorder.
Antje Banning +6 more
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NGLY1 deficiency: Novel patient, review of the literature and diagnostic algorithm [PDF]
JIMD Reports, 2020 Objectives Together with the lysosomal storage diseases, NGLY1 deficiency is a congenital disorder of deglycosylation (NGLY1‐CDDG). Since the first report in 2012, 26 patients have been described. All but one were diagnosed by exome or genome sequencing;
Patryk Lipiński +4 more
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NGLY1 mutations cause protein aggregation in human neurons [PDF]
Cell Reports, 2023 Summary: Biallelic mutations in the gene that encodes the enzyme N-glycanase 1 (NGLY1) cause a rare disease with multi-symptomatic features including developmental delay, intellectual disability, neuropathy, and seizures. NGLY1’s activity in human neural
Andreea Manole +23 more
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Urine oligosaccharide screening by MALDI-TOF for the identification of NGLY1 deficiency. [PDF]
Mol Genet Metab, 2018 N-glycanase deficiency (NGLY1 deficiency, NGLY1-CDDG), the first autosomal recessive congenital disorder of N-linked deglycosylation (CDDG), is caused by pathogenic variants in NGLY1. The majority of affected individuals have been identified using exome or genome sequencing.
Hall PL +12 more
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Progressive neurodegeneration, motor decline, and premature mortality in aging Ngly1 deficient rats [PDF]
Orphanet Journal of Rare DiseasesBackground N-glycanase 1 (NGLY1) Deficiency is an ultra-rare autosomal recessive disorder of deglycosylation caused by loss-of-function mutations in the NGLY1 gene. Patients present with developmental delay, intellectual disability, hyperkinetic movement
Lei Zhu +3 more
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Orthopaedic phenotyping of NGLY1 deficiency using an international, family-led disease registry [PDF]
Orphanet Journal of Rare Diseases, 2019 Background NGLY1 deficiency is a rare autosomal recessive disorder caused by loss in enzymatic function of NGLY1, a peptide N-glycanase that has been shown to play a role in endoplasmic reticulum associated degradation (ERAD).
Eli M. Cahan, Steven L. Frick
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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 & Clinical DevelopmentGS-100 is an AAV9 gene replacement therapy for the treatment of N-glycanase 1 (NGLY1) deficiency, an ultra-rare, recessive disorder characterized by developmental delay, intellectual disability, hyperkinetic movement disorder, elevated liver enzymes ...
Lei Zhu +7 more
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Systemic gene therapy corrects the neurological phenotype in a mouse model of NGLY1 deficiency [PDF]
JCI InsightThe cytoplasmic peptide:N-glycanase (NGLY1) is ubiquitously expressed and functions as a de–N-glycosylating enzyme that degrades misfolded N-glycosylated proteins.
Ailing Du +9 more
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Transcriptome and functional analysis in a Drosophila model of NGLY1 deficiency provides insight into therapeutic approaches. [PDF]
Hum Mol Genet, 2018 Autosomal recessive loss-of-function mutations in N-glycanase 1 (NGLY1) cause NGLY1 deficiency, the only known human disease of deglycosylation. Patients present with developmental delay, movement disorder, seizures, liver dysfunction and alacrima. NGLY1 is a conserved cytoplasmic component of the Endoplasmic Reticulum Associated Degradation (ERAD ...
Owings KG +4 more
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