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1993 1
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2011 1
2012 1
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2017 9
2018 13
2019 15
2020 16
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N-glycanase NGLY1 regulates mitochondrial homeostasis and inflammation through NRF1.
Yang K, Huang R, Fujihira H, Suzuki T, Yan N. Yang K, et al. J Exp Med. 2018 Oct 1;215(10):2600-2616. doi: 10.1084/jem.20180783. Epub 2018 Aug 22. J Exp Med. 2018. PMID: 30135079 Free PMC article.
The molecular mechanism of the NGLY1 disease and its function in tissue and immune homeostasis remain unknown. Here, we find that NGLY1-deficient human and mouse cells chronically activate cytosolic nucleic acid-sensing pathways, leading to elevated interferon gene …
The molecular mechanism of the NGLY1 disease and its function in tissue and immune homeostasis remain unknown. Here, we find that …
Mitochondrial function requires NGLY1.
Kong J, Peng M, Ostrovsky J, Kwon YJ, Oretsky O, McCormick EM, He M, Argon Y, Falk MJ. Kong J, et al. Mitochondrion. 2018 Jan;38:6-16. doi: 10.1016/j.mito.2017.07.008. Epub 2017 Jul 25. Mitochondrion. 2018. PMID: 28750948 Free PMC article.
Following identification of altered muscle and liver mitochondrial amount and function in two children with a CDG subtype caused by NGLY1 deficiency, we evaluated mitochondrial physiology in NGLY1 disease human fibroblasts, and in NGLY1-knockout mouse embryon …
Following identification of altered muscle and liver mitochondrial amount and function in two children with a CDG subtype caused by NGLY1
Liver-specific deletion of Ngly1 causes abnormal nuclear morphology and lipid metabolism under food stress.
Fujihira H, Masahara-Negishi Y, Akimoto Y, Hirayama H, Lee HC, Story BA, Mueller WF, Jakob P, Clauder-Münster S, Steinmetz LM, Radhakrishnan SK, Kawakami H, Kamada Y, Miyoshi E, Yokomizo T, Suzuki T. Fujihira H, et al. Biochim Biophys Acta Mol Basis Dis. 2020 Mar 1;1866(3):165588. doi: 10.1016/j.bbadis.2019.165588. Epub 2019 Nov 13. Biochim Biophys Acta Mol Basis Dis. 2020. PMID: 31733337
The recent discovery of NGLY1-deficiency, which causes severe systemic symptoms, drew attention to the physiological function of Ngly1 in mammals. ...In this study, we focus on the physiological function of Ngly1 in liver (hepatocyte)-specific Ngly1-de …
The recent discovery of NGLY1-deficiency, which causes severe systemic symptoms, drew attention to the physiological function of N
NGLY1-Related Congenital Disorder of Deglycosylation.
Lam C, Wolfe L, Need A, Shashi V, Enns G. Lam C, et al. 2018 Feb 8. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2020. GeneReviews®. 1993–2020. PMID: 29419975 Free Books & Documents. Review.
DIAGNOSIS/TESTING: The diagnosis of NGLY1-CDDG is established in a proband by the identification of biallelic pathogenic variants in NGLY1 on molecular genetic testing. Typical serum screening tests for congenital disorders of glycosylation (i.e., analysis of serum …
DIAGNOSIS/TESTING: The diagnosis of NGLY1-CDDG is established in a proband by the identification of biallelic pathogenic variants in …
Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation.
Lam C, Ferreira C, Krasnewich D, Toro C, Latham L, Zein WM, Lehky T, Brewer C, Baker EH, Thurm A, Farmer CA, Rosenzweig SD, Lyons JJ, Schreiber JM, Gropman A, Lingala S, Ghany MG, Solomon B, Macnamara E, Davids M, Stratakis CA, Kimonis V, Gahl WA, Wolfe L. Lam C, et al. Genet Med. 2017 Feb;19(2):160-168. doi: 10.1038/gim.2016.75. Epub 2016 Jul 7. Genet Med. 2017. PMID: 27388694 Free PMC article.
PURPOSE: The cytosolic enzyme N-glycanase 1, encoded by NGLY1, catalyzes cleavage of thebeta-aspartyl glycosylamine bond of N-linked glycoproteins, releasing intact N-glycans from proteins bound for degradation. In this study, we describe the clinical spectrum of NGLY1
PURPOSE: The cytosolic enzyme N-glycanase 1, encoded by NGLY1, catalyzes cleavage of thebeta-aspartyl glycosylamine bond of N-linked …
Urine oligosaccharide screening by MALDI-TOF for the identification of NGLY1 deficiency.
Hall PL, Lam C, Alexander JJ, Asif G, Berry GT, Ferreira C, Freeze HH, Gahl WA, Nickander KK, Sharer JD, Watson CM, Wolfe L, Raymond KM. Hall PL, et al. Mol Genet Metab. 2018 May;124(1):82-86. doi: 10.1016/j.ymgme.2018.03.002. Epub 2018 Mar 10. Mol Genet Metab. 2018. PMID: 29550355
N-glycanase deficiency (NGLY1 deficiency, NGLY1-CDDG), the first autosomal recessive congenital disorder of N-linked deglycosylation (CDDG), is caused by pathogenic variants in NGLY1. ...In addition to the known NGLY1-CDDG patients identified by this a …
N-glycanase deficiency (NGLY1 deficiency, NGLY1-CDDG), the first autosomal recessive congenital disorder of N-linked deglycosy …
N-Glycanase 1 Transcriptionally Regulates Aquaporins Independent of Its Enzymatic Activity.
Tambe MA, Ng BG, Freeze HH. Tambe MA, et al. Cell Rep. 2019 Dec 24;29(13):4620-4631.e4. doi: 10.1016/j.celrep.2019.11.097. Cell Rep. 2019. PMID: 31875565 Free article.
We demonstrate that Ngly1-null mouse embryonic fibroblasts, NGLY1 knockout human cells, and patient fibroblasts are resistant to hypotonic lysis. Ngly1-deficient mouse embryonic fibroblasts swell slower and have reduced aquaporin1 mRNA and protein expression. …
We demonstrate that Ngly1-null mouse embryonic fibroblasts, NGLY1 knockout human cells, and patient fibroblasts are resistant …
Aspartylglycosamine is a biomarker for NGLY1-CDDG, a congenital disorder of deglycosylation.
Haijes HA, de Sain-van der Velden MGM, Prinsen HCMT, Willems AP, van der Ham M, Gerrits J, Couse MH, Friedman JM, van Karnebeek CDM, Selby KA, van Hasselt PM, Verhoeven-Duif NM, Jans JJM. Haijes HA, et al. Mol Genet Metab. 2019 Aug;127(4):368-372. doi: 10.1016/j.ymgme.2019.07.001. Epub 2019 Jul 9. Mol Genet Metab. 2019. PMID: 31311714
BACKGROUND: NGLY1-CDDG is a congenital disorder of deglycosylation caused by a defective peptide:N-glycanase (PNG). To date, all but one of the reported patients have been diagnosed through whole-exome or whole-genome sequencing, as no biochemical marker was available to i …
BACKGROUND: NGLY1-CDDG is a congenital disorder of deglycosylation caused by a defective peptide:N-glycanase (PNG). To date, all but …
Inhibition of NGLY1 Inactivates the Transcription Factor Nrf1 and Potentiates Proteasome Inhibitor Cytotoxicity.
Tomlin FM, Gerling-Driessen UIM, Liu YC, Flynn RA, Vangala JR, Lentz CS, Clauder-Muenster S, Jakob P, Mueller WF, Ordoñez-Rueda D, Paulsen M, Matsui N, Foley D, Rafalko A, Suzuki T, Bogyo M, Steinmetz LM, Radhakrishnan SK, Bertozzi CR. Tomlin FM, et al. ACS Cent Sci. 2017 Nov 22;3(11):1143-1155. doi: 10.1021/acscentsci.7b00224. Epub 2017 Oct 25. ACS Cent Sci. 2017. PMID: 29202016 Free PMC article.
Chemical or genetic disruption of NGLY1 activity results in the accumulation of misprocessed Nrf1 that is largely excluded from the nucleus. ...Through a small molecule screen, we identified a cell-active NGLY1 inhibitor that disrupts the processing and function of …
Chemical or genetic disruption of NGLY1 activity results in the accumulation of misprocessed Nrf1 that is largely excluded from the n …
Drug screens of NGLY1 deficiency in worm and fly models reveal catecholamine, NRF2 and anti-inflammatory-pathway activation as potential clinical approaches.
Iyer S, Mast JD, Tsang H, Rodriguez TP, DiPrimio N, Prangley M, Sam FS, Parton Z, Perlstein EO. Iyer S, et al. Dis Model Mech. 2019 Nov 4;12(11):dmm040576. doi: 10.1242/dmm.040576. Dis Model Mech. 2019. PMID: 31615832 Free PMC article.
N-glycanase 1 (NGLY1) deficiency is an ultra-rare and complex monogenic glycosylation disorder that affects fewer than 40 patients globally. NGLY1 deficiency has been studied in model organisms such as yeast, worms, flies and mice. Proteasomal and mitochondrial home …
N-glycanase 1 (NGLY1) deficiency is an ultra-rare and complex monogenic glycosylation disorder that affects fewer than 40 patients gl …
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