Cargando…

A missense mutation in a patient with developmental delay affects the activity and structure of the hexosamine biosynthetic pathway enzyme AGX1

O‐GlcNAcylation is a post‐translational modification catalysed by O‐GlcNAc transferase (OGT). Missense mutations in OGT have been associated with developmental disorders, OGT‐linked congenital disorder of glycosylation (OGT‐CDG), which are characterized by intellectual disability. OGT relies on the...

Descripción completa

Detalles Bibliográficos
Autores principales:	Chen, Xiping, Raimi, Olawale G., Ferenbach, Andrew T., van Aalten, Daan M.F.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2020
Materias:	Research Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7839538/ https://www.ncbi.nlm.nih.gov/pubmed/33098688 http://dx.doi.org/10.1002/1873-3468.13968

Ejemplares similares

Targeting a critical step in fungal hexosamine biosynthesis
por: Lockhart, Deborah E. A., et al.
Publicado: (2020)

Genetic validation of Aspergillus fumigatus phosphoglucomutase as a viable therapeutic target in invasive aspergillosis
por: Yan, Kaizhou, et al.
Publicado: (2022)

Recognition of a glycosylation substrate by the O-GlcNAc transferase TPR repeats
por: Rafie, Karim, et al.
Publicado: (2017)

Evidence for substrate-assisted catalysis in N-acetylphosphoglucosamine mutase
por: Raimi, Olawale G., et al.
Publicado: (2018)

Targeting the Hexosamine Biosynthetic Pathway Prevents Plasmodium Developmental Cycle and Disease Pathology in Vertebrate Host
por: Gomes, Pollyanna Stephanie, et al.
Publicado: (2019)

Dual functionality of O-GlcNAc transferase is required for Drosophila development
por: Mariappa, Daniel, et al.
Publicado: (2015)

Fueling the fire: emerging role of the hexosamine biosynthetic pathway in cancer
por: Akella, Neha M., et al.
Publicado: (2019)

The dual role of the hexosamine biosynthetic pathway in cardiac physiology and pathophysiology
por: Cairns, Megan, et al.
Publicado: (2022)

Inhibition of the hexosamine biosynthetic pathway promotes castration-resistant prostate cancer
por: Kaushik, Akash K., et al.
Publicado: (2016)

Hijacking the Hexosamine Biosynthetic Pathway to Promote EMT-Mediated Neoplastic Phenotypes
por: Taparra, Kekoa, et al.
Publicado: (2016)

Metabolic Reprogramming by Hexosamine Biosynthetic and Golgi N-Glycan Branching Pathways
por: Ryczko, Michael C., et al.
Publicado: (2016)

Differential hexosamine biosynthetic pathway gene expression with type 2 diabetes
por: Coomer, Megan, et al.
Publicado: (2014)

The Nutrient-Sensing Hexosamine Biosynthetic Pathway as the Hub of Cancer Metabolic Rewiring
por: Chiaradonna, Ferdinando, et al.
Publicado: (2018)

Hexosamine Biosynthetic Pathway and Glycosylation Regulate Cell Migration in Melanoma Cells
por: de Queiroz, Rafaela Muniz, et al.
Publicado: (2019)

Hyperglycemia exacerbates colon cancer malignancy through hexosamine biosynthetic pathway
por: Vasconcelos-dos-Santos, A, et al.
Publicado: (2017)

A mechanism-inspired UDP-N-acetylglucosamine pyrophosphorylase inhibitor
por: Raimi, Olawale G., et al.
Publicado: (2020)

The O-GlcNAc Transferase Intellectual Disability Mutation L254F Distorts the TPR Helix
por: Gundogdu, Mehmet, et al.
Publicado: (2018)

Glycolysis and the Hexosamine Biosynthetic Pathway as Novel Targets for Upper and Lower Airway Inflammation
por: Kim, Young Hyo, et al.
Publicado: (2018)

Structure of PINK1 and mechanisms of Parkinson's disease-associated mutations
por: Kumar, Atul, et al.
Publicado: (2017)

Hexosamine biosynthetic pathway and O-GlcNAc-processing enzymes regulate daily rhythms in protein O-GlcNAcylation
por: Liu, Xianhui, et al.
Publicado: (2021)

Nucleocytoplasmic human O-GlcNAc transferase is sufficient for O-GlcNAcylation of mitochondrial proteins
por: Trapannone, Riccardo, et al.
Publicado: (2016)

The Hexosamine Biosynthetic Pathway Links Innate Inflammation With Epithelial-Mesenchymal Plasticity in Airway Remodeling
por: Brasier, Allan R., et al.
Publicado: (2021)

Contribution of the hexosamine biosynthetic pathway in the hyperglycemia-dependent and -independent breakdown of the retinal neurovascular unit
por: Wang, Yixin, et al.
Publicado: (2023)

Stomatin-like protein 2 induces metastasis by regulating the expression of a rate-limiting enzyme of the hexosamine biosynthetic pathway in pancreatic cancer
por: Chao, Dang, et al.
Publicado: (2021)

A missense mutation in the catalytic domain of O‐GlcNAc transferase links perturbations in protein O‐GlcNAcylation to X‐linked intellectual disability
por: Pravata, Veronica M., et al.
Publicado: (2019)

Roles of the hexosamine biosynthetic pathway and pentose phosphate pathway in bile acid‐induced cancer development
por: Munemoto, Masayoshi, et al.
Publicado: (2019)

Hexosamine Biosynthetic Pathway-Derived O-GlcNAcylation Is Critical for RANKL-Mediated Osteoclast Differentiation
por: Kim, Myoung Jun, et al.
Publicado: (2021)

Nutrient shortage triggers the hexosamine biosynthetic pathway via the GCN2-ATF4 signalling pathway
por: Chaveroux, Cédric, et al.
Publicado: (2016)

O-GlcNAc elevation through activation of the hexosamine biosynthetic pathway enhances cancer cell chemoresistance
por: Liu, Yubo, et al.
Publicado: (2018)

Inhibition of the Hexosamine Biosynthetic Pathway by targeting PGM3 causes breast cancer growth arrest and apoptosis
por: Ricciardiello, Francesca, et al.
Publicado: (2018)

Real Talk: The Inter-play Between the mTOR, AMPK, and Hexosamine Biosynthetic Pathways in Cell Signaling
por: Cork, Gentry K., et al.
Publicado: (2018)

Tisp40 prevents cardiac ischemia/reperfusion injury through the hexosamine biosynthetic pathway in male mice
por: Zhang, Xin, et al.
Publicado: (2023)

A Missense Mutation in the UGDH Gene Is Associated With Developmental Delay and Axial Hypotonia
por: Alhamoudi, Kheloud M., et al.
Publicado: (2020)

TRIB3 Mediates Glucose-Induced Insulin Resistance via a Mechanism That Requires the Hexosamine Biosynthetic Pathway
por: Zhang, Wei, et al.
Publicado: (2013)

Glutamine is a substrate for glycosylation and CA19-9 biosynthesis through hexosamine biosynthetic pathway in pancreatic cancer
por: Liu, Chen, et al.
Publicado: (2023)

A novel missense PTEN mutation identified in a patient with macrocephaly and developmental delay
por: Ueno, Yuichi, et al.
Publicado: (2019)

Effects of hypo-O-GlcNAcylation on Drosophila development
por: Mariappa, Daniel, et al.
Publicado: (2018)

Formal modeling and analysis of the hexosamine biosynthetic pathway: role of O-linked N-acetylglucosamine transferase in oncogenesis and cancer progression
por: Saeed, Muhammad Tariq, et al.
Publicado: (2016)

RELA∙8-Oxoguanine DNA Glycosylase1 Is an Epigenetic Regulatory Complex Coordinating the Hexosamine Biosynthetic Pathway in RSV Infection
por: Xu, Xiaofang, et al.
Publicado: (2022)

Increased hexosamine biosynthetic pathway flux alters cell–cell adhesion in INS-1E cells and murine islets
por: Lofrumento, Dario Domenico, et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_2m5qpa5tm7p20b99v2s79o8o1e