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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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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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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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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NGLY1 deficiency: a prospective natural history study. [PDF]
Hum Mol Genet, 2023 Abstract N-glycanase 1 (NGLY1) deficiency is a debilitating, ultra-rare autosomal recessive disorder caused by loss of function of NGLY1, a cytosolic enzyme that deglycosylates other proteins. It is characterized by severe global developmental delay and/or intellectual disability, hyperkinetic movement disorder, transient elevation of
Tong S +10 more
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An in vivo drug repurposing screen and transcriptional analyses reveals the serotonin pathway and GSK3 as major therapeutic targets for NGLY1 deficiency [PDF]
PLoS Genetics, 2022 NGLY1 deficiency, a rare disease with no effective treatment, is caused by autosomal recessive, loss-of-function mutations in the N-glycanase 1 (NGLY1) gene and is characterized by global developmental delay, hypotonia, alacrima, and seizures.
Kevin A. Hope +3 more
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JF1/B6F1 Ngly1-/- mouse as an isogenic animal model of NGLY1 deficiency. [PDF]
Proc Jpn Acad Ser B Phys Biol Sci, 2021 N-Glycanase 1 (NGLY1) deficiency is a congenital disorder caused by mutations in the NGLY1 gene. Because systemic Ngly1-/- mice with a C57BL/6 (B6) background are embryonically lethal, studies on the mechanism of NGLY1 deficiency using mice have been problematic.
Asahina M +6 more
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