96 related articles for article (PubMed ID: 31957011)
1. 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
Clin Genet; 2020 Apr; 97(4):556-566. PubMed ID: 31957011
[TBL] [Abstract][Full Text] [Related]
2. Progressive myoclonic epilepsy as an expanding phenotype of NGLY1-associated congenital deglycosylation disorder: A case report and review of the literature.
Sonoda Y; Fujita A; Torio M; Mukaino T; Sakata A; Matsukura M; Yonemoto K; Hatae K; Ichimiya Y; Chong PF; Ochiai M; Wada Y; Kadoya M; Okamoto N; Murakami Y; Suzuki T; Isobe N; Shigeto H; Matsumoto N; Sakai Y; Ohga S
Eur J Med Genet; 2024 Feb; 67():104895. PubMed ID: 38070824
[TBL] [Abstract][Full Text] [Related]
3. 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; 27(6):1055-1066. PubMed ID: 29346549
[TBL] [Abstract][Full Text] [Related]
4. Development of a fluorescence and quencher-based FRET assay for detection of endogenous peptide:N-glycanase/NGLY1 activity.
Hirayama H; Tachida Y; Fujinawa R; Matsuda Y; Murase T; Nishiuchi Y; Suzuki T
J Biol Chem; 2024 Apr; 300(4):107121. PubMed ID: 38417795
[TBL] [Abstract][Full Text] [Related]
5. 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
Cell Rep; 2023 Dec; 42(12):113466. PubMed ID: 38039131
[TBL] [Abstract][Full Text] [Related]
6. ELISA-based highly sensitive assay system for the detection of endogenous NGLY1 activity.
Fujihira H; Sato K; Nishiuchi Y; Murase T; Matsuda Y; Yoshida Y; Kamei T; Suzuki T
Biochem Biophys Res Commun; 2024 May; 710():149826. PubMed ID: 38581946
[TBL] [Abstract][Full Text] [Related]
7. 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
G3 (Bethesda); 2020 May; 10(5):1585-1597. PubMed ID: 32265286
[TBL] [Abstract][Full Text] [Related]
8. Intranasal oxytocin suppresses seizure-like behaviors in a mouse model of NGLY1 deficiency.
Makita Y; Asahina M; Fujinawa R; Yukitake H; Suzuki T
Commun Biol; 2024 Apr; 7(1):460. PubMed ID: 38649481
[TBL] [Abstract][Full Text] [Related]
9. Functional prediction of the potential NGLY1 mutations associated with rare disease CDG.
Yuan S; Chen Y; Zou L; Lu X; Liu R; Zhang S; Zhang Y; Chen C; Cheng D; Chen L; Sun G
Heliyon; 2024 Apr; 10(8):e28787. PubMed ID: 38628705
[TBL] [Abstract][Full Text] [Related]
10. Do all individuals with Dravet syndrome have intellectual disability?
Reilly C; Bjurulf B; Hallböök T
Epilepsia; 2024 Jun; 65(6):1801-1802. PubMed ID: 38093664
[No Abstract] [Full Text] [Related]
11. Response: Do all individuals with Dravet syndrome have intellectual disability?
Zuberi SM; Wirrell E; Tinuper P; Nabbout R
Epilepsia; 2024 Jun; 65(6):1803-1804. PubMed ID: 38597521
[No Abstract] [Full Text] [Related]
12. NGLY1 deficiency-A rare congenital disorder of deglycosylation.
Lipari Pinto P; Machado C; Janeiro P; Dupont J; Quintas S; Sousa AB; Gaspar A
JIMD Rep; 2020 May; 53(1):2-9. PubMed ID: 32395402
[TBL] [Abstract][Full Text] [Related]
13. NGLY1 deficiency: Novel patient, review of the literature and diagnostic algorithm.
Lipiński P; Bogdańska A; Różdżyńska-Świątkowska A; Wierzbicka-Rucińska A; Tylki-Szymańska A
JIMD Rep; 2020 Jan; 51(1):82-88. PubMed ID: 32071843
[TBL] [Abstract][Full Text] [Related]
14. 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
J Hum Genet; 2020 Apr; 65(4):387-396. PubMed ID: 31965062
[TBL] [Abstract][Full Text] [Related]
15. NGLY1 Deficiency: A Rare Newly Described Condition with a Typical Presentation.
Dabaj I; Sudrié-Arnaud B; Lecoquierre F; Raymond K; Ducatez F; Guerrot AM; Snanoudj S; Coutant S; Saugier-Veber P; Marret S; Nicolas G; Tebani A; Bekri S
Life (Basel); 2021 Feb; 11(3):. PubMed ID: 33673403
[TBL] [Abstract][Full Text] [Related]
16. A conserved role for AMP-activated protein kinase in NGLY1 deficiency.
Han SY; Pandey A; Moore T; Galeone A; Duraine L; Cowan TM; Jafar-Nejad H
PLoS Genet; 2020 Dec; 16(12):e1009258. PubMed ID: 33315951
[TBL] [Abstract][Full Text] [Related]
17. Ngly1 -/- rats develop neurodegenerative phenotypes and pathological abnormalities in their peripheral and central nervous systems.
Asahina M; Fujinawa R; Nakamura S; Yokoyama K; Tozawa R; Suzuki T
Hum Mol Genet; 2020 Jun; 29(10):1635-1647. PubMed ID: 32259258
[TBL] [Abstract][Full Text] [Related]
18. Regulation of BMP4/Dpp retrotranslocation and signaling by deglycosylation.
Galeone A; Adams JM; Matsuda S; Presa MF; Pandey A; Han SY; Tachida Y; Hirayama H; Vaccari T; Suzuki T; Lutz CM; Affolter M; Zuberi A; Jafar-Nejad H
Elife; 2020 Jul; 9():. PubMed ID: 32720893
[TBL] [Abstract][Full Text] [Related]
19.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]
