Results 51 to 60 of about 811 (146)
Cell Death and Disease, 2022 Mutations in N-glycanase 1 (NGLY1), which deglycosylates misfolded glycoproteins for degradation, can cause NGLY1 deficiency in patients and their abnormal fetal development in multiple organs, including microcephaly and other neurological disorders ...
Victor J. T. Lin +9 more
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Loss of N-Glycanase 1 Alters Transcriptional and Translational Regulation in K562 Cell Lines
G3: Genes, Genomes, Genetics, 2020 N-Glycanase 1 (NGLY1) deficiency is an ultra-rare, complex and devastating neuromuscular disease. Patients display multi-organ symptoms including developmental delays, movement disorders, seizures, constipation and lack of tear production.
William F. Mueller +15 more
doaj +1 more source
Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios [PDF]
, 2014 Purpose: Despite the recognized clinical value of exome-based diagnostics, methods for comprehensive genomic interpretation remain immature. Diagnoses are based on known or presumed pathogenic variants in genes already associated with a similar phenotype.
Anikster, Y +26 more
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NGLY1 Deficiency Affects Glycosaminoglycan Biosynthesis and Wnt Signaling Pathway in Mice [PDF]
, 2022 Individuals affected by NGLY1 Deficiency cannot properly deglycosylate and recycle certain proteins. Even though less than 100 people worldwide have been diagnosed with this rare autosomal recessive condition, thousands are affected by similar ...
Batten, Amy
core +1 more source
Stem Cell Research, 2019 NGLY1 deficiency is a rare genetic disease caused by mutations in the NGLY1 gene that encodes N-glycanase 1. The disease phenotype in patient cells is unclear.
Rong Li +11 more
doaj +1 more source
Sugar coating autophagy: exploring the links between the inhibition of NGLY1 (N-glycanase 1) and autophagy induction [PDF]
, 2023 The cytosolic enzyme NGLY1 (N-glycanase 1) is a central mediator of glycoprotein catabolism. The enzyme acts to cleave N-linked glycans from modified substrate asparagine residues prior to degradation of misfolded proteins by the proteasome, playing a ...
Allman, Sarah Ann, Kramer, H.B.R.
core +2 more sources
The Biochemical Basis of Congenital Disorders of Glycosylation [PDF]
, 2018 The enzyme peptide: N-glycanase (EC 3.5.1.52) is an endoglycosidase which cleaves N-linked glycans from incorrectly folded glycoproteins exported from the endoplasmic reticulum during ER-associated degradation (ERAD).
Needs, Sarah
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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, we present the follow-up results of hearing status in a patient with NGLY1 deficiency.
Yeral, Cem +3 more
openaire +2 more sources
Data Science, 2022 Enns et al. claimed in previous work that NGLY1 deficiency is a novel autosomal recessive disorder of the ERAD pathway. We present here a formalization of that claim, stating that all things of class “NGLY1 deficiency” that are in the context of a thing ...
Núria Queralt-Rosinach
doaj +1 more source
Studies on non-conventional degradation pathway for N-glycoproteins in mammalian cells [PDF]
, 2015 埼玉大学博士(学術)86 p.In eukaryotes, a large portion of the secretory and membrane proteins that synthesized in the ER are modified with asparagine-linked glycans (N-glycans).
ファン, チェンチェン +1 more
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