Results 41 to 50 of about 1,603 (150)

Dissecting the transcriptional program of phosphomannomutase 2-deficient cells: Lymphoblastoide B cell lines as a valuable model for congenital disorders of glycosylation studies

Glycobiology, 2021
AbstractCongenital disorders of glycosylation (CDG) include 150 genetically and clinically heterogeneous diseases, showing significant glycoprotein hypoglycosylation that leads to pathological consequences in multiple organs and systems whose underlying mechanisms are not yet understood. A few cellular and animal models have been used to study specific
Parrado A, Rubio G, Serrano M, De la Morena-Barrio ME, Ibáñez-Micó S, Ruiz-Lafuente N, Schwartz-Albiez R, Esteve-Solé A, Alsina L, Corral J, Hernández-Caselles T   +10 more
openaire   +5 more sources

Potential and pitfalls in the genetic diagnosis of kidney diseases [PDF]

, 2017
Next-generation sequencing has dramatically decreased the cost of gene sequencing, facilitating the simultaneous analysis of multiple genes at the same time; obtaining a genetic result for an individual patient has become much easier.
Ashton, E, Bockenhauer, D, Kesselheim, A
core   +1 more source

Congenital Disorders of Glycosylation in Portugal—Two Decades of Experience [PDF]

, 2021
Objective: To describe the clinical, biochemical, and genetic features of both new and previously reported patients with congenital disorders of glycosylation (CDGs) diagnosed in Portugal over the last 20 years.
Azevedo, L, Bandeira, A, Diogo, L, Fernandes, HC, Ferreira, AC, Fortuna, AM, Garcia, P, Gaspar, A, Jaeken, J, Janeiro, P, Keldermans, L, Laranjeira, F, Martins, E, Matthijs, G, Medeira, A, Mendonça, C, Oliveira, A, Quelhas, D, Race, V, Ribeiro, I, Rodrigues, E, Sequeira, S, Souche, E, Teles, EL   +23 more
core   +2 more sources

Snapshot of iron response in by gene network reconstruction [PDF]

, 2009
Background Iron homeostasis of Shewanella oneidensis, a γ-proteobacterium possessing high iron content, is regulated by a global transcription factor Fur.
Yunfeng Yang, Daniel P Harris, Feng Luo, Wenlu Xiong, Marcin Joachimiak, Liyou Wu, Paramvir Dehal, Janet Jacobsen, Zamin Yang, Anthony V Palumbo, Adam P Arkin, Jizhong Zhou   +11 more
core   +1 more source

Caspase-2 mediates a Brucella abortus RB51-induced hybrid cell death having features of apoptosis and pyroptosis [PDF]

, 2013
Programmed cell death (PCD) can play a crucial role in tuning the immune response to microbial infection. Although PCD can occur in different forms, all are mediated by a family of proteases called caspases.
Denise N. Bronner, Mary X. D. O'Riordan, Yongqun He   +2 more
core   +1 more source

Hypoglycemia in CDG patients due to PMM2 mutations: Follow up on hyperinsulinemic patients

JIMD Reports, 2020
Background Phosphomannomutase 2 deficiency (PMM2‐CDG) is the most common congenital disorder of glycosylation (CDG). Hypoglycemia has been reported in various CDG including PMM2‐CDG.
Hossein Moravej, Ruqaiah Altassan, Jaak Jaeken, Gregory M. Enns, Carolyn Ellaway, Shanti Balasubramaniam, Pascale De Lonlay, David Coman, Saadet Mercimek‐Andrews, Peter Witters, Eva Morava   +10 more
doaj   +1 more source

Conservation and Expression Patterns Divergence of Ascorbic Acid d-mannose/l-galactose Pathway Genes in Brassica rapa [PDF]

, 2016
Ascorbic acid (AsA) participates in diverse biological processes, is regulated by multiple factors and is a potent antioxidant and cellular reductant. The D-mannose/L-galactose pathway is a major plant AsA biosynthetic pathway that is highly connected ...
Jun eRen, Tongkun eLiu, Weike eDuan, Xiaoming eSong, Xiaoming eSong, Xilin eHou, Yan eLi, Ying eLi, Zhinan eHuang, Zhongwen eChen   +9 more
core   +2 more sources

Should patients with Phosphomannomutase 2-CDG (PMM2-CDG) be screened for adrenal insufficiency? [PDF]

, 2021
PMM2-CDG is the most common congenital disorder of glycosylation (CDG) accounting for almost 65% of known CDG cases affecting N-glycosylation. Abnormalities in N-glycosylation could have a negative impact on many endocrine axes.
Barone, Rita, Correia, Joana, De Lonlay, Pascale, Edmondson, Andrew C., Ficicioglu, Can, Honzík, Tomáš, Janssen, Mirian C.H., Lam, Christina, Morava, Eva, Patterson, Marc, Plotkin, Horacio, Quelhas, D, Sarafoglou, Kyriakie, Schiff, Manuel, Serrano, Mercedes, Sykut-Cegielska, Jolanta, Witters, Peter, Čechová, Anna   +17 more
core   +2 more sources

A Novel N-Tetrasaccharide in Patients with Congenital Disorders of Glycosylation, Including Asparagine-Linked Glycosylation Protein 1, Phosphomannomutase 2, and Mannose Phosphate Isomerase Deficiencies [PDF]

Clinical Chemistry, 2016
Abstract BACKGROUND Primary deficiencies in mannosylation of N-glycans are seen in a majority of patients with congenital disorders of glycosylation (CDG). We report the discovery of a series of novel N-glycans in sera, plasma, and cultured skin fibroblasts from patients with CDG having deficient ...
Wenyue, Zhang, Philip M, James, Bobby G, Ng, Xueli, Li, Baoyun, Xia, Jiang, Rong, Ghazia, Asif, Kimiyo, Raymond, Melanie A, Jones, Madhuri, Hegde, Tongzhong, Ju, Richard D, Cummings, Katie, Clarkson, Tim, Wood, Cornelius F, Boerkoel, Hudson H, Freeze, Miao, He   +16 more
openaire   +2 more sources

Repurposing the aldose reductase inhibitor and diabetic neuropathy drug epalrestat for the congenital disorder of glycosylation PMM2-CDG

Disease Models & Mechanisms, 2019
Phosphomannomutase 2 deficiency, or PMM2-CDG, is the most common congenital disorder of glycosylation and affects over 1000 patients globally. There are no approved drugs that treat the symptoms or root cause of PMM2-CDG.
Sangeetha Iyer, Feba S. Sam, Nina DiPrimio, Graeme Preston, Jan Verheijen, Kausalya Murthy, Zachary Parton, Hillary Tsang, Jessica Lao, Eva Morava, Ethan O. Perlstein   +10 more
doaj   +1 more source