Results 11 to 20 of about 933 (165)
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.
Soumeya Bekri, Gael Nicolas, Ivana Dabaj
exaly +6 more sources
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
doaj +4 more sources
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
doaj +5 more sources
Molecular Therapy - Methods and 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 ...
William F Mueller, Brett E Crawford
exaly +5 more sources
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
doaj +3 more sources
Functional prediction of the potential NGLY1 mutations associated with rare disease CDG [PDF]
HeliyonGenetic diseases are currently diagnosed by functional mutations. However, only some mutations are associated with disease. It is necessary to establish a quick prediction model for clinical screening. Pathogenic mutations in NGLY1 cause a rare autosomal
Shuying Yuan +10 more
doaj +3 more sources
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
doaj +3 more sources
A conserved role for AMP-activated protein kinase in NGLY1 deficiency.
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 +5 more sources
G3: Genes, Genomes, Genetics, 2018 N-glycanase 1 (NGLY1) Deficiency is a rare monogenic multi-system disorder first described in 2014. NGLY1 is evolutionarily conserved in model organisms.
Joshua D Mast, Ethan O. Perlstein
exaly +4 more sources
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
doaj +4 more sources