Reversibility of motor dysfunction in the rat model of NGLY1 deficiency by Makoto Asahina, Reiko Fujinawa, Hiroto Hirayama, Ryuichi Tozawa, Yasushi Kajii, Tadashi Suzuki

Subjects: “…Ngly1…”
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AAV9-NGLY1 gene replacement therapy improves phenotypic and biomarker endpoints in a rat model of NGLY1 Deficiency by Lei Zhu, Brandon Tan, Selina S. Dwight, Brendan Beahm, Matt Wilsey, Brett E. Crawford, Becky Schweighardt, Jennifer W. Cook, Thomas Wechsler, William F. Mueller

Subjects: “…MT: NGLY1…”
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NGLY1 Deficiency: A Rare Newly Described Condition with a Typical Presentation by 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

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Enzymatic insights into an inherited genetic disorder by Liping Zhang, Kelly G Ten Hagen

Subjects: “…NGLY1…”
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A Natural Compound Containing a Disaccharide Structure of Glucose and Rhamnose Identified as Potential N-Glycanase 1 (NGLY1) Inhibitors by Ruijie Liu, Jingjing Gu, Yilin Ye, Yuxin Zhang, Shaoxing Zhang, Qiange Lin, Shuying Yuan, Yanwen Chen, Xinrong Lu, Yongliang Tong, Shaoxian Lv, Li Chen, Guiqin Sun

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Tissue-specific regulation of BMP signaling by Drosophila N-glycanase 1 by Antonio Galeone, Seung Yeop Han, Chengcheng Huang, Akira Hosomi, Tadashi Suzuki, Hamed Jafar-Nejad

Subjects: “…NGLY1…”
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Transiently elevated plasma methionine, S‐adenosylmethionine and S‐adenosylhomocysteine: Unreported laboratory findings in a patient with NGLY1 deficiency, a congenital disorder of... by Caitlin A. Chang, Xing‐Chang Wei, Steven R. Martin, David S. Sinasac, Walla Al‐Hertani

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Generation and characterization of NGLY1 patient-derived midbrain organoids by Joshua Abbott, Mitali Tambe, Ivan Pavlinov, Atena Farkhondeh, Ha Nam Nguyen, Ha Nam Nguyen, Miao Xu, Manisha Pradhan, Tate York, Matthew Might, Karsten Baumgärtel, Steven Rodems, Wei Zheng

Subjects: “…NGLY1…”
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NGLY1 Deficiency Zebrafish Model Manifests Abnormalities of the Nervous and Musculoskeletal Systems by Aviv Mesika, Aviv Mesika, Golan Nadav, Golan Nadav, Chen Shochat, Limor Kalfon, Karen Jackson, Ayat Khalaileh, Ayat Khalaileh, David Karasik, Tzipora C. Falik-Zaccai, Tzipora C. Falik-Zaccai

Subjects: “…NGLY1 deficiency…”
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Regulation of BMP4/Dpp retrotranslocation and signaling by deglycosylation by 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

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Defects in the Neuroendocrine Axis Contribute to Global Development Delay in a Drosophila Model of NGLY1 Deficiency by Tamy Portillo Rodriguez, Joshua D. Mast, Tom Hartl, Tom Lee, Peter Sand, Ethan O. Perlstein

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NGLY1 deficiency: estimated incidence, clinical features, and genotypic spectrum from the NGLY1 Registry by Caroline R. Stanclift, Selina S. Dwight, Kevin Lee, Quirine L. Eijkenboom, Matt Wilsey, Kristen Wilsey, Erica Sanford Kobayashi, Sandra Tong, Matthew N. Bainbridge

Subjects: “…NGLY1 deficiency…”
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Loss of N-Glycanase 1 Alters Transcriptional and Translational Regulation in K562 Cell Lines by William F. Mueller, Petra Jakob, Han Sun, Sandra Clauder-Münster, Sonja Ghidelli-Disse, Diana Ordonez, Markus Boesche, Marcus Bantscheff, Paul Collier, Bettina Haase, Vladimir Benes, Malte Paulsen, Peter Sehr, Joe Lewis, Gerard Drewes, Lars M. Steinmetz

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NGLY1 deficiency—A rare congenital disorder of deglycosylation by Patrícia Lipari Pinto, Catarina Machado, Patrícia Janeiro, Juliette Dupont, Sofia Quintas, Ana Berta Sousa, Ana Gaspar

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HR23B pathology preferentially co-localizes with p62, pTDP-43 and poly-GA in C9ORF72-linked frontotemporal dementia and amyotrophic lateral sclerosis by Frederike W. Riemslagh, Hannes Lans, Harro Seelaar, Lies-Anne W. F. M. Severijnen, Shamiram Melhem, Wim Vermeulen, Eleonora Aronica, R. Jeroen Pasterkamp, John C. van Swieten, Rob Willemsen

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Orthopaedic phenotyping of NGLY1 deficiency using an international, family-led disease registry by Eli M. Cahan, Steven L. Frick

Subjects: “…NGLY1 deficiency…”
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Drug screens of NGLY1 deficiency in worm and fly models reveal catecholamine, NRF2 and anti-inflammatory-pathway activation as potential clinical approaches by Sangeetha Iyer, Joshua D. Mast, Hillary Tsang, Tamy P. Rodriguez, Nina DiPrimio, Madeleine Prangley, Feba S. Sam, Zachary Parton, Ethan O. Perlstein

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Liver Involvement in Congenital Disorders of Glycosylation and Deglycosylation by Patryk Lipiński, Anna Bogdańska, Piotr Socha, Anna Tylki-Szymańska

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Sugar coating autophagy: exploring the links between the inhibition of NGLY1 (N-glycanase 1) and autophagy induction by Holger B. R. Kramer, Sarah Ann Allman

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