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Items: 1 to 20 of 2586

1.
Urine Oligosaccharide Screening by MALDI-TOF for the Identification of NGLY1 Deficiency
Patricia L. Hall, Christina Lam, John J. Alexander, Ghazia Asif, Gerard T. Berry, Carlos Ferreira, Hudson H. Freeze, William A. Gahl, Kim K. Nickander, Jon D. Sharer, Caroline M. Watson, Lynne Wolfe, Kimiyo M. Raymond
Mol Genet Metab. Author manuscript; available in PMC 2023 Sep 19.
Published in final edited form as: Mol Genet Metab. 2018 May; 124(1): 82–86. Published online 2018 Mar 10. doi: 10.1016/j.ymgme.2018.03.002
PMCID:
PMC10508399
ArticlePDF–347K
2.
NGLY1 deficiency: a prospective natural history study
Sandra Tong, Pamela Ventola, Christina H Frater, Jenna Klotz, Jennifer M Phillips, Srikanth Muppidi, Selina S Dwight, William F Mueller, Brendan J Beahm, Matt Wilsey, Kevin J Lee
Hum Mol Genet. 2023 Sep 15; 32(18): 2787–2796. Published online 2023 Jun 28. doi: 10.1093/hmg/ddad106
PMCID:
PMC10481101
ArticlePDF–1.1M
3.
NGLY1 deficiency: estimated incidence, clinical features, and genotypic spectrum from the NGLY1 Registry
Caroline R. Stanclift, Selina S. Dwight, Kevin Lee, Quirine L. Eijkenboom, Matt Wilsey, Kristen Wilsey, Erica Sanford Kobayashi, Sandra Tong, Matthew N. Bainbridge
Orphanet J Rare Dis. 2022; 17: 440. Published online 2022 Dec 17. doi: 10.1186/s13023-022-02592-3
PMCID:
PMC9759919
ArticlePDF–1.1M
4.
AAV9-NGLY1 gene replacement therapy improves phenotypic and biomarker endpoints in a rat model of NGLY1 Deficiency
Lei Zhu, Brandon Tan, Selina S. Dwight, Brendan Beahm, Matt Wilsey, Brett E. Crawford, Becky Schweighardt, Jennifer W. Cook, Thomas Wechsler, William F. Mueller
Mol Ther Methods Clin Dev. 2022 Dec 8; 27: 259–271. Published online 2022 Oct 3. doi: 10.1016/j.omtm.2022.09.015
PMCID:
PMC9593239
ArticlePDF–2.0M
5.
NGLY1 Deficiency Zebrafish Model Manifests Abnormalities of the Nervous and Musculoskeletal Systems
Aviv Mesika, Golan Nadav, Chen Shochat, Limor Kalfon, Karen Jackson, Ayat Khalaileh, David Karasik, Tzipora C. Falik-Zaccai
Front Cell Dev Biol. 2022; 10: 902969. Published online 2022 Jun 13. doi: 10.3389/fcell.2022.902969
PMCID:
PMC9234281
ArticlePDF–1.9M
6.
An in vivo drug repurposing screen and transcriptional analyses reveals the serotonin pathway and GSK3 as major therapeutic targets for NGLY1 deficiency
Kevin A. Hope, Alexys R. Berman, Randall T. Peterson, Clement Y. Chow
PLoS Genet. 2022 Jun; 18(6): e1010228. Published online 2022 Jun 2. doi: 10.1371/journal.pgen.1010228
PMCID:
PMC9162339
ArticlePDF–2.6M
7.
NGLY1 Deficiency, a Congenital Disorder of Deglycosylation: From Disease Gene Function to Pathophysiology
Ashutosh Pandey, Joshua M. Adams, Seung Yeop Han, Hamed Jafar-Nejad
Cells. 2022 Apr; 11(7): 1155. Published online 2022 Mar 29. doi: 10.3390/cells11071155
PMCID:
PMC8997433
ArticlePDF–8.5M
8.
GlcNAc-Asn is a biomarker for NGLY1 deficiency
William F Mueller, Lei Zhu, Brandon Tan, Selina Dwight, Brendan Beahm, Matt Wilsey, Thomas Wechsler, Justin Mak, Tina Cowan, Jake Pritchett, Eric Taylor, Brett E Crawford
J Biochem. 2022 Feb; 171(2): 177–186. Published online 2021 Oct 26. doi: 10.1093/jb/mvab111
Correction in:
J Biochem. 2022 Apr; 171(4): 469.
PMCID:
PMC8863169
ArticlePDF–579K
9.
NGLY1 Deficiency: A Rare Newly Described Condition with a Typical Presentation
Ivana Dabaj, Bénédicte Sudrié-Arnaud, François Lecoquierre, Kimiyo Raymond, Franklin Ducatez, Anne-Marie Guerrot, Sarah Snanoudj, Sophie Coutant, Pascale Saugier-Veber, Stéphane Marret, Gaël Nicolas, Abdellah Tebani, Soumeya Bekri
Life (Basel) 2021 Mar; 11(3): 187. Published online 2021 Feb 27. doi: 10.3390/life11030187
PMCID:
PMC7996810
ArticlePDF–977K
10.
A conserved role for AMP-activated protein kinase in NGLY1 deficiency
Seung Yeop Han, Ashutosh Pandey, Tereza Moore, Antonio Galeone, Lita Duraine, Tina M. Cowan, Hamed Jafar-Nejad
PLoS Genet. 2020 Dec; 16(12): e1009258. Published online 2020 Dec 14. doi: 10.1371/journal.pgen.1009258
PMCID:
PMC7769621
ArticlePDF–3.7M
11.
NGLY1 deficiency—A rare congenital disorder of deglycosylation
Patrícia Lipari Pinto, Catarina Machado, Patrícia Janeiro, Juliette Dupont, Sofia Quintas, Ana Berta Sousa, Ana Gaspar
JIMD Rep. 2020 May; 53(1): 2–9. Published online 2020 Apr 10. doi: 10.1002/jmd2.12108
PMCID:
PMC7203651
ArticlePDF–918K
12.
NGLY1 deficiency: Novel patient, review of the literature and diagnostic algorithm
Patryk Lipiński, Anna Bogdańska, Agnieszka Różdżyńska‐Świątkowska, Aldona Wierzbicka‐Rucińska, Anna Tylki‐Szymańska
JIMD Rep. 2020 Jan; 51(1): 82–88. Published online 2020 Jan 30. doi: 10.1002/jmd2.12086
PMCID:
PMC7012742
ArticlePDF–924K
13.
Transiently elevated plasma methionine, S‐adenosylmethionine and S‐adenosylhomocysteine: Unreported laboratory findings in a patient with NGLY1 deficiency, a congenital disorder of deglycosylation
Caitlin A. Chang, Xing‐Chang Wei, Steven R. Martin, David S. Sinasac, Walla Al‐Hertani
JIMD Rep. 2019 Sep; 49(1): 21–29. Published online 2019 Jul 22. doi: 10.1002/jmd2.12064
PMCID:
PMC6718116
ArticlePDF–953K
14.
Orthopaedic phenotyping of NGLY1 deficiency using an international, family-led disease registry
Eli M. Cahan, Steven L. Frick
Orphanet J Rare Dis. 2019; 14: 148. Published online 2019 Jun 19. doi: 10.1186/s13023-019-1131-4
PMCID:
PMC6584998
ArticlePDF–1.1M
15.
Repurposing of Proton Pump Inhibitors as First Identified Small Molecule Inhibitors of Endo-β-N-acetylglucosaminidase (ENGase) for the Treatment of Rare NGLY1 Genetic Disease
Yiling Bi, Matthew Might, Hariprasad Vankayalapati, Balagurunathan Kuberan
Bioorg Med Chem Lett. Author manuscript; available in PMC 2018 Jul 1.
Published in final edited form as: Bioorg Med Chem Lett. 2017 Jul 1; 27(13): 2962–2966. Published online 2017 May 5. doi: 10.1016/j.bmcl.2017.05.010
PMCID:
PMC5548696
ArticlePDF–552K
16.
Formerly degenerate seventh zinc finger domain from transcription factor ZNF711 rehabilitated by experimental NMR structure
Antonio J. Rua, Andrei T. Alexandrescu
Version 1. bioRxiv. Preprint. 2024 Apr 10. doi: 10.1101/2024.04.06.588434
PMCID:
PMC11030341
ArticlePDF–2.6M
17.
Antiretroviral Drugs for Treatment and Prevention of HIV Infection in Adults: 2020 Recommendations of the International Antiviral Society–USA Panel
Michael S. Saag, Rajesh T. Gandhi, Jennifer F. Hoy, Raphael J. Landovitz, Melanie A. Thompson, Paul E. Sax, Davey M. Smith, Constance A. Benson, Susan P. Buchbinder, Carlos del Rio, Joseph J. Eron, Jr, Gerd Fätkenheuer, Huldrych F. Günthard, Jean-Michel Molina, Donna M. Jacobsen, Paul A. Volberding
JAMA. Author manuscript; available in PMC 2024 Apr 15.
Published in final edited form as: JAMA. 2020 Oct 27; 324(16): 1651–1669. doi: 10.1001/jama.2020.17025
PMCID:
PMC11017368
ArticlePDF–226K
18.
Disproportionate declines of formerly abundant species underlie insect loss
Roel van Klink, Diana E. Bowler, Konstantin B. Gongalsky, Minghua Shen, Scott R. Swengel, Jonathan M. Chase
Nature. 2024; 628(8007): 359–364. Published online 2023 Dec 20. doi: 10.1038/s41586-023-06861-4
PMCID:
PMC11006610
ArticlePDF–11M
19.
Lower systemic nitric oxide bioactivity, cerebral hypoperfusion and accelerated cognitive decline in formerly concussed retired rugby union players
Thomas S. Owens, Christopher J. Marley, Thomas A. Calverley, Benjamin S. Stacey, Lewis Fall, Hayato Tsukamoto, Angelo Iannetelli, Teresa Filipponi, Bruce Davies, Gareth L. Jones, Christophe Hirtz, Sylvain Lehmann, Edouard Tuaillon, Nicola Marchi, Damian M. Bailey
Exp Physiol. 2023 Aug; 108(8): 1029–1046. Published online 2023 Jul 9. doi: 10.1113/EP091195
PMCID:
PMC10988504
ArticlePDF–802K
20.
New insights into the stipitate hydnoid fungi Sarcodon, Hydnellum, and the formerly informally defined Neosarcodon, with emphasis on the edible species marketed in Southwest China
Di Wang, Hui Feng, Jie Zhou, Tian-Hai Liu, Zhi-Yuan Zhang, Ying-Yin Xu, Jie Tang, Wei-Hong Peng, Xiao-Lan He
IMA Fungus. 2024; 15: 8. Published online 2024 Mar 26. doi: 10.1186/s43008-023-00138-1
PMCID:
PMC10964585
ArticlePDF–5.1M

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