Results 61 to 70 of about 954 (147)

Physiological importance of NGLY1, as revealed by rodent model analyses [PDF]

The Journal of Biochemistry, 2021
Abstract Cytosolic peptide:N-glycanase (NGLY1) is an enzyme that cleaves N-glycans from glycoproteins that has been retrotranslocated from the endoplasmic reticulum (ER) lumen into the cytosol. It is known that NGLY1 is involved in the degradation of cytosolic glycans (non-lysosomal glycan degradation) as well as ER-associated ...
Haruhiko, Fujihira, Makoto, Asahina, Tadashi, Suzuki   +2 more
openaire   +2 more sources

Comparative proteomics reveals elevated CCN2 in NGLY1-deficient cells. [PDF]

Biochem Biophys Res Commun, 2022
N-glycanase 1(NGLY1) catalyzes the removal of N-linked glycans from newly synthesized or misfolded protein. NGLY1 deficiency is a recently diagnosed rare genetic disorder. The affected individuals present a broad spectrum of clinical features. Recent studies explored several possible molecular mechanisms of NGLY1 deficiency including defects in ...
Hetz R, Magaway C, Everett J, Li L, Willard BB, Freeze HH, He P.   +6 more
europepmc   +3 more sources

Regulation of BMP4/Dpp retrotranslocation and signaling by deglycosylation

eLife, 2020
During endoplasmic reticulum-associated degradation (ERAD), the cytoplasmic enzyme N-glycanase 1 (NGLY1) is proposed to remove N-glycans from misfolded N-glycoproteins after their retrotranslocation from the ER to the cytosol. We previously reported that
Antonio Galeone, Joshua M Adams, Shinya Matsuda, Maximiliano F Presa, Ashutosh Pandey, Seung Yeop Han, Yuriko Tachida, Hiroto Hirayama, Thomas Vaccari, Tadashi Suzuki, Cathleen M Lutz, Markus Affolter, Aamir Zuberi, Hamed Jafar-Nejad   +13 more
doaj   +1 more source

The cytoplasmic peptide:N-glycanase (NGLY1) — Structure, expression and cellular functions [PDF]

Gene, 2016
NGLY1/Ngly1 is a cytosolic peptide:N-glycanase, i.e. de-N-glycosylating enzyme acting on N-glycoproteins in mammals, generating free, unconjugated N-glycans and deglycosylated peptides in which the N-glycosylated asparagine residues are converted to aspartates.
Suzuki, Tadashi, Huang, Chengcheng, Fujihira, Haruhiko   +2 more
openaire   +2 more sources

Gut barrier defects, intestinal immune hyperactivation and enhanced lipid catabolism drive lethality in NGLY1-deficient Drosophila

Nature Communications, 2023
Intestinal barrier dysfunction leads to inflammation and associated metabolic changes. However, the relative impact of gut bacteria versus non-bacterial insults on animal health in the context of barrier dysfunction is not well understood.
Ashutosh Pandey, A. Galeone, S. Han, Benjamin A. Story, Gaia Consonni, William F. Mueller, Lars M. Steinmetz, Thomas Vaccari, H. Jafar-Nejad   +8 more
semanticscholar   +1 more source

A Drosophila screen identifies NKCC1 as a modifier of NGLY1 deficiency

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, Katie G Owings, Emily Coelho, Gaelle Mercenne, John M Pleinis, Raghavendran Partha, Kevin A Hope, Aamir R Zuberi, Nathan L Clark, Cathleen M Lutz, Aylin R Rodan, Clement Y Chow   +11 more
doaj   +1 more source

NGLY1 knockdown or pharmacological inhibition induces cellular autophagy [PDF]

, 2020
SummaryPan-caspase inhibitor Z-VAD-fmk acts as an inhibitor of peptide:N-glycanase (NGLY1); an endoglycosidase which cleavesN-linked glycans from glycoproteins exported from the endoplasmic reticulum during ER-associated degradation (ERAD). PharmacologicalN-glycanase inhibition by Z-VAD-fmk or siRNA knockdown (KD) induces GFP-LC3 positive puncta in HEK
Sarah H Needs, Martin D Bootman, Jeff E Grotzke, Holger B Kramer, Sarah A Allman   +4 more
openaire   +1 more source

Generation of an induced pluripotent stem cell line (TRNDi002-B) from a patient carrying compound heterozygous p.Q208X and p.G310G mutations in the NGLY1 gene

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, Manisha Pradhan, Miao Xu, Amanda Baskfield, Atena Farkhondeh, Yu-Shan Cheng, Jeanette Beers, Jizhong Zou, Chengyu Liu, Matthew Might, Steven Rodems, Wei Zheng   +11 more
doaj   +1 more source

Liver Involvement in Congenital Disorders of Glycosylation and Deglycosylation

Frontiers in Pediatrics, 2021
Background: Congenital disorders of glycosylation (CDG) and NGLY1-CDDG (NGLY1-congenital disorder of deglycosylation) usually represent multisystem (especially neurovisceral) diseases with liver involvement reported in some of them.
Patryk Lipiński, Anna Bogdańska, Piotr Socha, Anna Tylki-Szymańska   +3 more
doaj   +1 more source

Two novel compound heterozygous mutations in NGLY1as a cause of congenital disorder of deglycosylation: a case presentation

BMC Medical Genetics, 2020
Background NGLY1-related congenital disorder of deglycosylation (NGLY1-CDDG) is a multisystemic neurodevelopmental disorder in which affected individuals show developmental delay, epilepsy, intellectual disability, abnormal liver function, and poor ...
Haixia Ge, Qingbin Wu, Huigang Lu, Yong Huang, Tingting Zhou, Danlin Tan, ZhongqinJin   +6 more
doaj   +1 more source