Results 31 to 40 of about 756 (108)

N-Glycosylation Regulates the Trafficking and Surface Mobility of GluN3A-Containing NMDA Receptors

Frontiers in Molecular Neuroscience, 2018
N-methyl-D-aspartate receptors (NMDARs) play critical roles in both excitatory neurotransmission and synaptic plasticity. NMDARs containing the nonconventional GluN3A subunit have different functional properties compared to receptors comprised of GluN1 ...
Kristyna Skrenkova, Kristyna Skrenkova, Kristyna Skrenkova, Sanghyeon Lee, Katarina Lichnerova, Katarina Lichnerova, Martina Kaniakova, Hana Hansikova, Martin Zapotocky, Young Ho Suh, Martin Horak, Martin Horak   +11 more
doaj   +1 more source

Integration and comparison of multi-omics profiles of NGLY1 deficiency plasma and cellular models to identify clinically relevant molecular phenotypes

bioRxiv, 2021
NGLY1 (N-glycanase 1) deficiency is a rare congenital recessive disorder of protein deglycosylation unaddressed by the current standard of care. Using combined metabolomics and proteomics profiling, we show that NGLY1 deficiency activates the immune ...
Songjie Chen, Guangwen Wang, Xiaotao Shen, Daniel Hornburg, Shannon Rego, Rene Hoffman, Stephanie A. Nevins, Xun Cheng, M. Snyder   +8 more
semanticscholar   +1 more source

Presentation of Congenital Portosystemic Shunts in Children

Children, 2022
Background: Congenital portosystemic shunts (CPSS) are rare vascular anomalies resulting in communications between the portal venous system and the systemic venous circulation, affecting an estimated 30,000 to 50,000 live births.
A. Bahadori, B. Kuhlmann, D. Debray, S. Franchi-Abella, J. Wacker, M. Beghetti, B. Wildhaber, V. McLin, On Behalf Of The Ircpss   +8 more
semanticscholar   +1 more source

N-glycanase NGLY1 regulates mitochondrial homeostasis and inflammation through NRF1

Journal of Experimental Medicine, 2018
Mutations in the NGLY1 (N-glycanase 1) gene, encoding an evolutionarily conserved deglycosylation enzyme, are associated with a rare congenital disorder leading to global developmental delay and neurological abnormalities.
Kun Yang, Ryan Huang, Haruhiko Fujihira, Tadashi Suzuki, Nan Yan   +4 more
semanticscholar   +1 more source

Intranasal oxytocin suppresses seizure-like behaviors in a mouse model of NGLY1 deficiency

Communications Biology
NGLY1 deficiency is a genetic disease caused by biallelic mutations of the Ngly1 gene. Although epileptic seizure is one of the most severe symptoms in patients with NGLY1 deficiency, preclinical studies have not been conducted due to the lack of animal ...
Yukimasa Makita, Makoto Asahina, Reiko Fujinawa, Hiroshi Yukitake, Tadashi Suzuki   +4 more
semanticscholar   +1 more source

Phosphomannomutase 2 hyperinsulinemia: Recent advances of genetic pathogenesis, diagnosis, and management. [PDF]

Front Endocrinol (Lausanne), 2022
Chen C, Sang Y.
europepmc   +1 more source

Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2.

Journal of the American Society of Nephrology, 2017
O. R. Cabezas, S. Flanagan, H. Stanescu, E. García-Martínez, R. Caswell, H. Lango-Allen, M. Antón-Gamero, J. Argente, Anna-Marie Bussell, A. Brandli, C. Cheshire, E. Crowne, Simona Dumitriu, R. Drynda, J. Hamilton-Shield, W. Hayes, Alexis Hofherr, D. Iancu, N. Issler, C. Jefferies, P. Jones, Matthew B. Johnson, Anne Kesselheim, E. Klootwijk, Michael Koettgen, W. Lewis, José María Martos, M. Mozere, J. Norman, Vaksha Patel, A. Parrish, C. Pérez‐Cerdá, J. Pozo, S. Rahman, N. Sebire, M. Tekman, P. Turnpenny, W. Hoff, D. Viering, M. Weedon, Patricia D. Wilson, L. Guay-Woodford, R. Kleta, K. Hussain, S. Ellard, D. Bockenhauer   +45 more
semanticscholar   +1 more source

Architects of folding, editors of immunity: the strategic use of <i>N</i>-glycans in vaccine design. [PDF]

Front Immunol
Orioli S, Idrovo-Hidalgo T, Martinez Saucedo MLA, D'Alessio C.   +3 more
europepmc   +1 more source

NGLY1 as an Emerging Critical Modulator for Neurodevelopment and Pathogenesis in the Brain. [PDF]

Int J Mol Sci
Zhang H, Xue H, Wang YC, Liu Y.
europepmc   +1 more source

Unmasking genetic etiologies in neurodevelopmental disorders characterized by Cerebral Palsy: insights from integrative genomic approaches. [PDF]

Front Neurol
Yigit A, Akgun-Dogan O, Ozkeserli Z, Bayram Akcapınar G, Ayta S, Gencpinar P, Maras Genc H, Kutlubay B, Kara B, Sozen HG, Agaoglu NB, Ozdemir O, Bilguvar K, Ozbek U.   +13 more
europepmc   +1 more source