Results 41 to 50 of about 422,094 (137)
Inhibition of NGLY1 inactivates the transcription factor Nrf1 and potentiates proteasome inhibitor cytotoxicity [PDF]
, 2017 We discovered that the proteostasis modulating transcription factor Nrf1 requires cytosolic de-N-glycosylation by the N-glycanase NGly1 as part of its activation mechanism.
Diana, Ordoñez-Rueda +18 more
core +4 more sources
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
Traffic, Volume 24, Issue 8, Page 312-333, August 2023., 2023 Degradation of unassembled, misfolded, and other defective proteins is mediated by a major quality control mechanism, named the endoplasmic reticulum‐associated protein degradation (ERAD). Throughout this manuscript, we present the various genetically manipulated higher cellular and mammalian animal models that were depleted for specific ERAD ...
Sally Badawi +3 more
wiley +1 more source
Stem Cell Research, 2021 NGLY1 deficiency is a rare disorder caused by mutations in the NGLY1 gene which codes for the highly conserved N-glycanase1 (NGLY1). This enzyme functions in cytosolic deglycosylation of N- linked glycoproteins.
Manisha Pradhan +10 more
doaj +1 more source
Journal of Inherited Metabolic Disease, Volume 46, Issue 2, Page 206-219, March 2023., 2023 Abstract Oligosaccharidoses, sphingolipidoses and mucolipidoses are lysosomal storage disorders (LSDs) in which defective breakdown of glycan‐side chains of glycosylated proteins and glycolipids leads to the accumulation of incompletely degraded oligosaccharides within lysosomes. In metabolic laboratories, these disorders are commonly diagnosed by thin‐
Marne C. Hagemeijer +6 more
wiley +1 more source
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
NGLY1 Deficiency: A Rare Genetic Disorder Unlocks Therapeutic Potential for Common Diseases
Israel Journal of Chemistry, Volume 63, Issue 1-2, February 2023., 2023 Abstract The enzyme catalysing the removal of N‐linked glycans from misfolded glycoproteins in the cytosol is an evolutionary well‐conserved glycanase called Peptide:N‐glycanase (PNGase; NGLY1 in humans). NGLY1 hydrolyses the amide bond between an Asn and the proximal N‐acetylglucosamine (GlcNAc) of the attached N‐glycan, thereby converting that ...
Simon Walber +2 more
wiley +1 more source
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
doaj +1 more source
Advanced Therapeutics, Volume 5, Issue 11, November 2022., 2022 NGLY1‐CDDG is a rare and recently identified congenital deglycosylation disorder that impairs motor function. Motoneurons (MNs) derived from NGLY1‐deficient patients are co‐cultured with skeletal muscle in a neuromuscular junction microphysiological system.
Trevor Sasserath +15 more
wiley +1 more source
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