Results 31 to 40 of about 954 (147)
Liver involvement in NGLY1 congenital disorder of deglycosylation [PDF]
Polish Journal of Pathology, 2020 N-glycanase 1 deficiency is a congenital disorder of deglycosylation, which has been diagnosed in 27 patients, including 2 of them from Poland. The most characteristic symptoms include global developmental disability, hyperkinetic movement disorder, hypo-
Patryk Lipiński +3 more
doaj +3 more sources
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
doaj +3 more sources
Audiologic follow up results of child with NGLY1 deficiency
Annals of Medical Research, 2023 NGLY1 deficiency is a rare in which affected individuals show developmental delay/intellectual disability in the mild to profound range, epilepsy, auditory neuropathy, abnormal liver function, complex hyperkinetic movement disorder and poor growth. Here,
Oğulcan Gundogdu +3 more
semanticscholar +3 more sources
Ever-expanding NGLY1 biology [PDF]
The Journal of Biochemistry, 2021 Abstract The cytosolic peptide:N-glycanase (PNGase; NGLY1 in humans) is a deglycosylating enzyme that is widely conserved in eukaryotes. This enzyme is involved in the degradation of misfolded N-glycoproteins that are destined for proteasomal degradation in the cytosol, a process that is called endoplasmic reticulum-associated ...
Tadashi, Suzuki, Yukiko, Yoshida
openaire +2 more sources
Assay for the peptide:N-glycanase/NGLY1 and disease-specific biomarkers for diagnosing NGLY1 deficiency [PDF]
The Journal of Biochemistry, 2021 Abstract Cytosolic peptide:N-glycanase (NGLY1 in mammals), a highly conserved enzyme in eukaryotes, catalyses the deglycosylation of N-glycans that are attached to glycopeptide/glycoproteins. In 2012, an autosomal recessive disorder related to the NGLY1 gene, which was referred to as NGLY1 deficiency, was reported.
Hiroto, Hirayama, Tadashi, Suzuki
openaire +2 more sources
Tracing the NGLY1 footprints: insights from Drosophila [PDF]
The Journal of Biochemistry, 2021 Abstract Recessive mutations in human N-glycanase 1 (NGLY1) cause a multisystem disorder with various phenotypes including global developmental delay. One of the models utilized to understand the biology of NGLY1 and the pathophysiology of NGLY1 deficiency is Drosophila melanogaster, a well-established, genetically tractable organism ...
Ashutosh Pandey, Hamed Jafar-Nejad
openaire +2 more sources
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
doaj +3 more sources
Mitochondrial function requires NGLY1 [PDF]
Mitochondrion, 2018 Mitochondrial respiratory chain (RC) diseases and congenital disorders of glycosylation (CDG) share extensive clinical overlap but are considered to have distinct cellular pathophysiology. Here, we demonstrate that an essential physiologic connection exists between cellular N-linked deglycosylation capacity and mitochondrial function.
Jianping, Kong +8 more
openaire +2 more sources
NGLY1: insights from Caenorhabditis elegans [PDF]
The Journal of Biochemistry, 2021 Abstract Peptide:N-glycanase is an evolutionarily conserved deglycosylating enzyme that catalyses the removal of N-linked glycans from cytosolic glycoproteins. Recessive mutations that inactivate this enzyme cause NGLY1 deficiency, a multisystemic disorder with symptoms including developmental delay and defects in cognition and motor ...
openaire +2 more sources
Stem Cell Research, 2021 NGLY1 deficiency is a rare recessive genetic disease caused by mutations in the NGLY1 gene which codes for N-glycanase 1 (NGLY1). Here, we report the generation of two gene corrected iPSC lines using a patient-derived iPSC line (NCATS-CL6103) that ...
Ivan Pavlinov +11 more
doaj +1 more source