Results 41 to 50 of about 933 (165)
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
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
NGLY1 deficiency: a prospective natural history study. [PDF]
Hum Mol Genet, 2023 Abstract N-glycanase 1 (NGLY1) deficiency is a debilitating, ultra-rare autosomal recessive disorder caused by loss of function of NGLY1, a cytosolic enzyme that deglycosylates other proteins. It is characterized by severe global developmental delay and/or intellectual disability, hyperkinetic movement disorder, transient elevation of
Tong S +10 more
europepmc +3 more sources
GlcNAc-Asn is a biomarker for NGLY1 deficiency
The Journal of Biochemistry, 2021 Abstract Substrate-derived biomarkers are necessary in slowly progressing monogenetic diseases caused by single-enzyme deficiencies to identify affected patients and serve as surrogate markers for therapy response. N-glycanase 1 (NGLY1) deficiency is an ultra-rare autosomal recessive disorder characterized by developmental delay ...
Mueller, William F +11 more
openaire +3 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
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
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
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
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
Image1_Generation and characterization of NGLY1 patient-derived midbrain organoids.pdf
, 2023 NGLY1 deficiency is an ultra-rare, autosomal recessive genetic disease caused by mutations in the NGLY1 gene encoding N-glycanase one that removes N-linked glycan.
Ivan Pavlinov (6866153) +11 more
core +1 more source