248 related articles for article (PubMed ID: 32259258)
1. 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]
2. 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]
3. N-Glycanase 1 Transcriptionally Regulates Aquaporins Independent of Its Enzymatic Activity.
Tambe MA; Ng BG; Freeze HH
Cell Rep; 2019 Dec; 29(13):4620-4631.e4. PubMed ID: 31875565
[TBL] [Abstract][Full Text] [Related]
4. Reversibility of motor dysfunction in the rat model of NGLY1 deficiency.
Asahina M; Fujinawa R; Hirayama H; Tozawa R; Kajii Y; Suzuki T
Mol Brain; 2021 Jun; 14(1):91. PubMed ID: 34120625
[TBL] [Abstract][Full Text] [Related]
5. NGLY1 Deficiency, a Congenital Disorder of Deglycosylation: From Disease Gene Function to Pathophysiology.
Pandey A; Adams JM; Han SY; Jafar-Nejad H
Cells; 2022 Mar; 11(7):. PubMed ID: 35406718
[No Abstract] [Full Text] [Related]
6. Defects in the Neuroendocrine Axis Contribute to Global Development Delay in a
Rodriguez TP; Mast JD; Hartl T; Lee T; Sand P; Perlstein EO
G3 (Bethesda); 2018 Jul; 8(7):2193-2204. PubMed ID: 29735526
[TBL] [Abstract][Full Text] [Related]
7. 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; 2020 Mar; 1866(3):165588. PubMed ID: 31733337
[TBL] [Abstract][Full Text] [Related]
8. The cytoplasmic peptide:N-glycanase (NGLY1) - Structure, expression and cellular functions.
Suzuki T; Huang C; Fujihira H
Gene; 2016 Feb; 577(1):1-7. PubMed ID: 26611529
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. Expanding the NGLY1 deficiency phenotype: Case report of an atypical patient.
Nolan DK; Pastore MT; McBride KL
Eur J Med Genet; 2022 Aug; 65(8):104558. PubMed ID: 35779835
[TBL] [Abstract][Full Text] [Related]
11. 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; ; Cowan TM; He P; Langlois S; Zoghbi HY; Snyder M; Gibbs RA; Freeze HH; Goldstein DB
Genet Med; 2014 Oct; 16(10):751-8. PubMed ID: 24651605
[TBL] [Abstract][Full Text] [Related]
12. JF1/B6F1 Ngly1
Asahina M; Fujinawa R; Fujihira H; Masahara-Negishi Y; Andou T; Tozawa R; Suzuki T
Proc Jpn Acad Ser B Phys Biol Sci; 2021; 97(2):89-102. PubMed ID: 33563880
[TBL] [Abstract][Full Text] [Related]
13. 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
Eur J Med Genet; 2021 Mar; 64(3):104146. PubMed ID: 33497766
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. NGLY1: insights from Caenorhabditis elegans.
Lehrbach NJ
J Biochem; 2022 Feb; 171(2):145-152. PubMed ID: 34697631
[TBL] [Abstract][Full Text] [Related]
16. 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
Nutrients; 2022 Apr; 14(9):. PubMed ID: 35565658
[TBL] [Abstract][Full Text] [Related]
17. Ever-expanding NGLY1 biology.
Suzuki T; Yoshida Y
J Biochem; 2022 Feb; 171(2):141-143. PubMed ID: 34969094
[TBL] [Abstract][Full Text] [Related]
18. [Congenital disorder of deglycosylation associated with N-glycanse 1 deficiency].
Lipiński P; Tylki-Szymańska A
Postepy Biochem; 2020 Mar; 66(1):38-41. PubMed ID: 33320481
[TBL] [Abstract][Full Text] [Related]
19. 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
Eur J Med Genet; 2015 Jan; 58(1):39-43. PubMed ID: 25220016
[TBL] [Abstract][Full Text] [Related]
20. Assay for the peptide:N-glycanase/NGLY1 and disease-specific biomarkers for diagnosing NGLY1 deficiency.
Hirayama H; Suzuki T
J Biochem; 2022 Feb; 171(2):169-176. PubMed ID: 34791337
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
