| Structural basis of sugar recognition by SCF[FBS2] ubiquitin ligase involved in NGLY1 deficiency. | Structural basis of sugar recognition by SCF(FBS2) ubiquitin ligase involved in NGLY1 deficiency.
Satoh T, Yagi-Utsumi M, Ishii N, Mizushima T, Yagi H, Kato R, Tachida Y, Tateno H, Matsuo I, Kato K, Suzuki T, Yoshida Y. | 10/3/2024 |
| Ocular features of NGLY1 deficiency from a prospective longitudinal cohort. | Ocular features of NGLY1 deficiency from a prospective longitudinal cohort.
Frater CH, Ruzhnikov MRZ, Beres S, Alcorn D, Shue A, Levy RJ. | 06/17/2024 |
| NGLY1 mutations cause protein aggregation in human neurons. | NGLY1 mutations cause protein aggregation in human neurons.
Manole A, Wong T, Rhee A, Novak S, Chin SM, Tsimring K, Paucar A, Williams A, Newmeyer TF, Schafer ST, Rosh I, Kaushik S, Hoffman R, Chen S, Wang G, Snyder M, Cuervo AM, Andrade L, Manor U, Lee K, Jones JR, Stern S, Marchetto MC, Gage FH., Free PMC Article | 01/5/2024 |
| N-glycoproteomics reveals distinct glycosylation alterations in NGLY1-deficient patient-derived dermal fibroblasts. | N-glycoproteomics reveals distinct glycosylation alterations in NGLY1-deficient patient-derived dermal fibroblasts.
Budhraja R, Saraswat M, De Graef D, Ranatunga W, Ramarajan MG, Mousa J, Kozicz T, Pandey A, Morava E., Free PMC Article | 01/21/2023 |
| NGLY1 deficiency: estimated incidence, clinical features, and genotypic spectrum from the NGLY1 Registry. | NGLY1 deficiency: estimated incidence, clinical features, and genotypic spectrum from the NGLY1 Registry.
Stanclift CR, Dwight SS, Lee K, Eijkenboom QL, Wilsey M, Wilsey K, Kobayashi ES, Tong S, Bainbridge MN., Free PMC Article | 01/11/2023 |
| Comparative proteomics reveals elevated CCN2 in NGLY1-deficient cells. | Comparative proteomics reveals elevated CCN2 in NGLY1-deficient cells.
Hetz R, Magaway C, Everett J, Li L, Willard BB, Freeze HH, He P., Free PMC Article | 11/5/2022 |
| Comprehensive Analysis of the Structure and Function of Peptide:N-Glycanase 1 and Relationship with Congenital Disorder of Deglycosylation. | Comprehensive Analysis of the Structure and Function of Peptide:N-Glycanase 1 and Relationship with Congenital Disorder of Deglycosylation.
Miao X, Wu J, Chen H, Lu G., Free PMC Article | 05/28/2022 |
| Ferroptosis regulation by the NGLY1/NFE2L1 pathway. | Ferroptosis regulation by the NGLY1/NFE2L1 pathway.
Forcina GC, Pope L, Murray M, Dong W, Abu-Remaileh M, Bertozzi CR, Dixon SJ., Free PMC Article | 05/14/2022 |
| Deficiency of N-glycanase 1 perturbs neurogenesis and cerebral development modeled by human organoids. | Deficiency of N-glycanase 1 perturbs neurogenesis and cerebral development modeled by human organoids.
Lin VJT, Hu J, Zolekar A, Salick MR, Mittal P, Bird JT, Hoffmann P, Kaykas A, Byrum SD, Wang YC., Free PMC Article | 04/23/2022 |
| Ever-expanding NGLY1 biology. | Ever-expanding NGLY1 biology.
Suzuki T, Yoshida Y. | 02/26/2022 |
| Loss of N-Glycanase 1 Alters Transcriptional and Translational Regulation in K562 Cell Lines. | Loss of N-Glycanase 1 Alters Transcriptional and Translational Regulation in K562 Cell Lines.
Mueller WF, Jakob P, Sun H, Clauder-Münster S, Ghidelli-Disse S, Ordonez D, Boesche M, Bantscheff M, Collier P, Haase B, Benes V, Paulsen M, Sehr P, Lewis J, Drewes G, Steinmetz LM., Free PMC Article | 08/28/2021 |
| NGLY1 deficiency: Novel variants and literature review. | NGLY1 deficiency: Novel variants and literature review.
Kariminejad A, Shakiba M, Shams M, Namiranian P, Eghbali M, Talebi S, Makvand M, Jaeken J, Najmabadi H, Hennekam RC. | 07/10/2021 |
| Variants in NGLY1 lead to intellectual disability, myoclonus epilepsy, sensorimotor axonal polyneuropathy and mitochondrial dysfunction. | Variants in NGLY1 lead to intellectual disability, myoclonus epilepsy, sensorimotor axonal polyneuropathy and mitochondrial dysfunction.
Panneman DM, Wortmann SB, Haaxma CA, van Hasselt PM, Wolf NI, Hendriks Y, Küsters B, van Emst-de Vries S, van de Westerlo E, Koopman WJH, Wintjes L, van den Brandt F, de Vries M, Lefeber DJ, Smeitink JAM, Rodenburg RJ., Free PMC Article | 06/5/2021 |
| Congenital disorder of deglycosylation associated with N-glycanse 1 deficiency", trans "Wrodzone zaburzenie deglikozylacji zwiazane z deficytem N-glikanazy 1. | [Congenital disorder of deglycosylation associated with N-glycanse 1 deficiency].
Lipiński P, Tylki-Szymańska A. | 12/19/2020 |
| Novel NGLY1 gene variants in Chinese children with global developmental delay, microcephaly, hypotonia, hypertransaminasemia, alacrimia, and feeding difficulty. | Novel NGLY1 gene variants in Chinese children with global developmental delay, microcephaly, hypotonia, hypertransaminasemia, alacrimia, and feeding difficulty.
Abuduxikuer K, Zou L, Wang L, Chen L, Wang JS. | 10/10/2020 |
| N-Glycanase 1 Transcriptionally Regulates Aquaporins Independent of Its Enzymatic Activity. | N-Glycanase 1 Transcriptionally Regulates Aquaporins Independent of Its Enzymatic Activity.
Tambe MA, Ng BG, Freeze HH. | 09/26/2020 |
| Across these distinct evolutionary models of cytosolic NGLY1 deficiency, a consistent disruption of mitochondrial physiology was present involving modestly reduced mitochondrial content with more pronounced impairment of mitochondrial membrane potential, increased mitochondrial matrix oxidant burden, and reduced cellular respiratory capacity. | Mitochondrial function requires NGLY1.
Kong J, Peng M, Ostrovsky J, Kwon YJ, Oretsky O, McCormick EM, He M, Argon Y, Falk MJ., Free PMC Article | 11/17/2018 |
| Our prospective phenotyping expands the clinical spectrum of NGLY1-CDDG, offers prognostic information, and provides baseline data for evaluating therapeutic interventions | 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., Free PMC Article | 12/16/2017 |
| The patients with NGLY1 deficiency show developmental delay, seizures, peripheral neuropathy, abnormal liver function and alacrima. | 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., Free PMC Article | 03/26/2016 |
| This review summarizes the research history of cytoplasmic PNGase. | The cytoplasmic peptide:N-glycanase (Ngly1)-basic science encounters a human genetic disorder.
Suzuki T. | 09/26/2015 |
| NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy | NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy.
Caglayan AO, Comu S, Baranoski JF, Parman Y, Kaymakçalan H, Akgumus GT, Caglar C, Dolen D, Erson-Omay EZ, Harmanci AS, Mishra-Gorur K, Freeze HH, Yasuno K, Bilguvar K, Gunel M., Free PMC Article | 09/5/2015 |
| Data indicate that N-glycanase 1 (NGLY1) deficiency is a novel autosomal recessive disorder of the endoplasmic reticulum-associated degradation pathway associated with neurological dysfunction, abnormal tear production, and liver disease. | Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway.
Enns GM, Shashi V, Bainbridge M, Gambello MJ, Zahir FR, Bast T, Crimian R, Schoch K, Platt J, Cox R, Bernstein JA, Scavina M, Walter RS, Bibb A, Jones M, Hegde M, Graham BH, Need AC, Oviedo A, Schaaf CP, Boyle S, Butte AJ, Chen R, Chen R, Clark MJ, Haraksingh R, FORGE Canada Consortium, Cowan TM, He P, Langlois S, Zoghbi HY, Snyder M, Gibbs RA, Freeze HH, Goldstein DB., Free PMC Article | 06/27/2015 |
| PNGase-PUB serves not only as p97-binding module but also as a possible activator of HR23 in endoplasmic reticulum-associated degradation mechanisms. | NMR characterization of the interaction between the PUB domain of peptide:N-glycanase and ubiquitin-like domain of HR23.
Kamiya Y, Uekusa Y, Sumiyoshi A, Sasakawa H, Hirao T, Suzuki T, Kato K. | 07/21/2012 |
| As the generation of the bulk of fOS is unaffected by co-down regulation of Ngly1p and Engase1p, alternative quantitatively important mechanisms must underlie the liberation of these fOS from either LLO or glycoproteins during protein N-glycosylation. | Identification of roles for peptide: N-glycanase and endo-beta-N-acetylglucosaminidase (Engase1p) during protein N-glycosylation in human HepG2 cells.
Chantret I, Fasseu M, Zaoui K, Le Bizec C, Sadou Yayé H, Dupré T, Moore SE., Free PMC Article | 10/30/2010 |
| Describes the function of Yeast PNG1 and identifies similar proteins in mouse, human, D. melanogaster, C. elegans, and S. pombe. | PNG1, a yeast gene encoding a highly conserved peptide:N-glycanase.
Suzuki T, Park H, Hollingsworth NM, Sternglanz R, Lennarz WJ., Free PMC Article | 02/18/2009 |