NGLY1 deficiency: estimated incidence, clinical features, and genotypic spectrum from the NGLY1 Registry [PDF]
Orphanet Journal of Rare Diseases, 2022 Purpose NGLY1 Deficiency is an ultra-rare, multisystemic disease caused by biallelic pathogenic NGLY1 variants. The aims of this study were to (1) characterize the variants and clinical features of the largest cohort of NGLY1 Deficiency patients reported
Caroline R. Stanclift +8 more
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Reversibility of motor dysfunction in the rat model of NGLY1 deficiency [PDF]
Molecular Brain, 2021 N-glycanase 1 (NGLY1) deficiency is a rare inherited disorder characterized by developmental delay, hypolacrima or alacrima, seizure, intellectual disability, motor deficits, and other neurological symptoms.
Makoto Asahina +5 more
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AAV9-NGLY1 gene replacement therapy improves phenotypic and biomarker endpoints in a rat model of NGLY1 Deficiency [PDF]
Molecular Therapy: Methods & Clinical Development, 2022 N-glycanase 1 (NGLY1) Deficiency is a progressive, ultra-rare, autosomal recessive disorder with no approved therapy and five core clinical features: severe global developmental delay, hyperkinetic movement disorder, elevated liver transaminases ...
Lei Zhu +9 more
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A Drosophila screen identifies NKCC1 as a modifier of NGLY1 deficiency [PDF]
eLife, 2020 N-Glycanase 1 (NGLY1) is a cytoplasmic deglycosylating enzyme. Loss-of-function mutations in the NGLY1 gene cause NGLY1 deficiency, which is characterized by developmental delay, seizures, and a lack of sweat and tears.
Dana M Talsness +11 more
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NGLY1 Deficiency Zebrafish Model Manifests Abnormalities of the Nervous and Musculoskeletal Systems [PDF]
Frontiers in Cell and Developmental Biology, 2022 Background: NGLY1 is an enigmatic enzyme with multiple functions across a wide range of species. In humans, pathogenic genetic variants in NGLY1 are linked to a variable phenotype of global neurological dysfunction, abnormal tear production, and liver ...
Aviv Mesika +11 more
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NGLY1 Deficiency: A Rare Newly Described Condition with a Typical Presentation [PDF]
Life, 2021 NGLY1 deficiency is the first recognized autosomal recessive disorder of N-linked deglycosylation (NGLY1-CDDG). This severe multisystemic disease is still poorly known and, to date, most cases have been diagnosed through whole exome or genome sequencing.
Ivana Dabaj +12 more
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NGLY1 deficiency—A rare congenital disorder of deglycosylation [PDF]
JIMD Reports, 2020 Pathogenic variants in the NGLY1 gene are associated with a Congenital Disorder of Deglycosylation (CDDG) characterized by delays in reaching developmental milestones, complex hyperkinetic movement disorder, transient elevation of transaminases, and ...
Patrícia Lipari Pinto +6 more
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A conserved role for AMP-activated protein kinase in NGLY1 deficiency. [PDF]
PLoS Genetics, 2020 Mutations in human N-glycanase 1 (NGLY1) cause the first known congenital disorder of deglycosylation (CDDG). Patients with this rare disease, which is also known as NGLY1 deficiency, exhibit global developmental delay and other phenotypes including ...
Seung Yeop Han +6 more
doaj +6 more sources
NGLY1 Deficiency, a Congenital Disorder of Deglycosylation: From Disease Gene Function to Pathophysiology [PDF]
Cells, 2022 N-Glycanase 1 (NGLY1) is a cytosolic enzyme involved in removing N-linked glycans of misfolded N-glycoproteins and is considered to be a component of endoplasmic reticulum-associated degradation (ERAD).
Ashutosh Pandey +3 more
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Intranasal oxytocin suppresses seizure-like behaviors in a mouse model of NGLY1 deficiency [PDF]
Communications BiologyNGLY1 deficiency is a genetic disease caused by biallelic mutations of the Ngly1 gene. Although epileptic seizure is one of the most severe symptoms in patients with NGLY1 deficiency, preclinical studies have not been conducted due to the lack of animal ...
Yukimasa Makita +4 more
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