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Items: 1 to 20 of 101

1.

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.

Dis Model Mech. 2019 Nov 4;12(11). pii: dmm040576. doi: 10.1242/dmm.040576.

2.

Defects in the Neuroendocrine Axis Contribute to Global Development Delay in a Drosophila Model of NGLY1 Deficiency.

Rodriguez TP, Mast JD, Hartl T, Lee T, Sand P, Perlstein EO.

G3 (Bethesda). 2018 Jul 2;8(7):2193-2204. doi: 10.1534/g3.118.300578. Erratum in: G3 (Bethesda). 2019 Jan 9;9(1):315.

3.

N-glycanase NGLY1 regulates mitochondrial homeostasis and inflammation through NRF1.

Yang K, Huang R, Fujihira H, Suzuki T, Yan N.

J Exp Med. 2018 Oct 1;215(10):2600-2616. doi: 10.1084/jem.20180783. Epub 2018 Aug 22.

4.

Protein Sequence Editing of SKN-1A/Nrf1 by Peptide:N-Glycanase Controls Proteasome Gene Expression.

Lehrbach NJ, Breen PC, Ruvkun G.

Cell. 2019 Apr 18;177(3):737-750.e15. doi: 10.1016/j.cell.2019.03.035.

PMID:
31002798
5.

Repurposing of Proton Pump Inhibitors as first identified small molecule inhibitors of endo-β-N-acetylglucosaminidase (ENGase) for the treatment of NGLY1 deficiency, a rare genetic disease.

Bi Y, Might M, Vankayalapati H, Kuberan B.

Bioorg Med Chem Lett. 2017 Jul 1;27(13):2962-2966. doi: 10.1016/j.bmcl.2017.05.010. Epub 2017 May 5.

6.

Transcriptome and functional analysis in a Drosophila model of NGLY1 deficiency provides insight into therapeutic approaches.

Owings KG, Lowry JB, Bi Y, Might M, Chow CY.

Hum Mol Genet. 2018 Mar 15;27(6):1055-1066. doi: 10.1093/hmg/ddy026.

7.

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.

ACS Cent Sci. 2017 Nov 22;3(11):1143-1155. doi: 10.1021/acscentsci.7b00224. Epub 2017 Oct 25.

8.

Lethality of mice bearing a knockout of the Ngly1-gene is partially rescued by the additional deletion of the Engase gene.

Fujihira H, Masahara-Negishi Y, Tamura M, Huang C, Harada Y, Wakana S, Takakura D, Kawasaki N, Taniguchi N, Kondoh G, Yamashita T, Funakoshi Y, Suzuki T.

PLoS Genet. 2017 Apr 20;13(4):e1006696. doi: 10.1371/journal.pgen.1006696. eCollection 2017 Apr.

9.

Mitochondrial function requires NGLY1.

Kong J, Peng M, Ostrovsky J, Kwon YJ, Oretsky O, McCormick EM, He M, Argon Y, Falk MJ.

Mitochondrion. 2018 Jan;38:6-16. doi: 10.1016/j.mito.2017.07.008. Epub 2017 Jul 25.

10.

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.

Mol Genet Metab. 2018 May;124(1):82-86. doi: 10.1016/j.ymgme.2018.03.002. Epub 2018 Mar 10.

PMID:
29550355
11.

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.

Mol Genet Metab. 2019 Aug;127(4):368-372. doi: 10.1016/j.ymgme.2019.07.001. Epub 2019 Jul 9.

PMID:
31311714
12.

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.

Biochim Biophys Acta Mol Basis Dis. 2019 Nov 13:165588. doi: 10.1016/j.bbadis.2019.165588. [Epub ahead of print]

PMID:
31733337
13.

Tissue-specific regulation of BMP signaling by Drosophila N-glycanase 1.

Galeone A, Han SY, Huang C, Hosomi A, Suzuki T, Jafar-Nejad H.

Elife. 2017 Aug 4;6. pii: e27612. doi: 10.7554/eLife.27612.

14.

Unexplained death in patients with NGLY1 mutations may be explained by adrenal insufficiency.

van Keulen BJ, Rotteveel J, Finken MJJ.

Physiol Rep. 2019 Feb;7(3):e13979. doi: 10.14814/phy2.13979.

15.

The cytoplasmic peptide:N-glycanase (NGLY1) - Structure, expression and cellular functions.

Suzuki T, Huang C, Fujihira H.

Gene. 2016 Feb 10;577(1):1-7. doi: 10.1016/j.gene.2015.11.021. Epub 2015 Nov 30. Review.

16.

Orthopaedic phenotyping of NGLY1 deficiency using an international, family-led disease registry.

Cahan EM, Frick SL.

Orphanet J Rare Dis. 2019 Jun 19;14(1):148. doi: 10.1186/s13023-019-1131-4.

17.

NGLY1-Related Congenital Disorder of Deglycosylation.

Lam C, Wolfe L, Need A, Shashi V, Enns G.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2018 Feb 8.

18.

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.

Genet Med. 2017 Feb;19(2):160-168. doi: 10.1038/gim.2016.75. Epub 2016 Jul 7.

PMID:
27388694
19.

A congenital disorder of deglycosylation: Biochemical characterization of N-glycanase 1 deficiency in patient fibroblasts.

He P, Grotzke JE, Ng BG, Gunel M, Jafar-Nejad H, Cresswell P, Enns GM, Freeze HH.

Glycobiology. 2015 Aug;25(8):836-44. doi: 10.1093/glycob/cwv024. Epub 2015 Apr 21.

20.

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