Results 31 to 40 of about 763 (113)

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

Foetal disruptive brain injuries: Diagnosing the underlying pathogenetic mechanisms with cranial ultrasonography. [PDF]

Dev Med Child Neurol
Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.16431 Abstract Antenatal destructive events affecting the central nervous system of the foetus lead to disruptive brain lesions that are often associated with impaired neurodevelopment.
Alarcón A, Carreras N, Muehlbacher T, Casas-Alba D, Arena R, Roca-Llabrés P, Navarro-Morón J, de Vries LS, Govaert P, EurUS.Brain group.   +9 more
europepmc   +2 more sources

The clinical spectrum of phosphomannomutase 2 deficiency (CDG-Ia)

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 2009
Congenital disorders of glycosylation are a clinically and genetically heterogeneous group of disorders resulting from abnormal glycosylation of various glycoconjugates. The first description of congenital disorders of glycosylation was published in the early 80s and once screening tests for glycosylation disorders (CDGs) became readily available, CDG ...
openaire   +3 more sources

A quantitative assessment of the evolution of cerebellar syndrome in children with phosphomannomutase-deficiency (PMM2-CDG)

Orphanet Journal of Rare Diseases, 2017
Background We aim to delineate the progression of cerebellar syndrome in children with phosphomannomutase-deficiency (PMM2-CDG) using the International Cooperative Ataxia Rating Scale (ICARS).
Natalia Lourdes Serrano, Victor De Diego, Daniel Cuadras, Antonio F. Martinez Monseny, Ramón Velázquez-Fragua, Laura López, Ana Felipe, Luis G. Gutiérrez-Solana, Alfons Macaya, Belén Pérez-Dueñas, Mercedes Serrano, CDG Spanish-Consortium   +11 more
doaj   +1 more source

Additional file 1 of Dietary mannose supplementation in phosphomannomutase 2 deficiency (PMM2-CDG)

, 2020
Additional file 1: Figure S1. Layout showing the metabolic fate of mannose in mammalian cells. PMM2 is an essential enzyme catalyzing the conversion of mannose-6-phosphate to mannose-1- phosphate, which is the first step in the synthesis. Figure S2.
Taday, Roman, Grüneberg, Marianne, DuChesne, Ingrid, Reunert, Janine, Marquardt, Thorsten   +4 more
openaire   +1 more source

Autoimmunity and Periodontitis

Journal of Periodontal Research, EarlyView.
In a microbe‐driven inflammatory environment, peptidyl‐arginine deiminase (PAD) enzymes from neutrophils and Porphyromonas gingivalis citrullinate both microbial and self‐antigens. B cell presentation of citrullinated or self‐mimicking epitopes activates T cells that assist B cells in antibody isotype switching, affinity maturation, epitope spreading ...
Massimo Costalonga, Vivek Thumbigere‐Math, Mark C. Herzberg   +2 more
wiley   +1 more source

Caenorhabditis elegans as an in vivo model system for human inherited primary arrhythmia syndromes

The Journal of Physiology, EarlyView.
Abstract figure legend Most genes involved in inherited primary arrhythmia syndromes (IPAS) are conserved in Caenorhabditis elegans, where genetic manipulation enables functional characterization of variants, identification of regulatory proteins, and in vivo drug testing.
Antoine Delinière, Thomas Boulin, Maëlle Jospin, Alexandre Janin, Gilles Millat, Philippe Chevalier, Olga Andrini   +6 more
wiley   +1 more source

Neural and metabolic dysregulation in PMM2-deficient human in vitro neural models

Cell Reports
Summary: Phosphomannomutase 2-congenital disorder of glycosylation (PMM2-CDG) is a rare inborn error of metabolism caused by deficiency of the PMM2 enzyme, which leads to impaired protein glycosylation.
Silvia Radenkovic, Rohit Budhraja, Teun Klein-Gunnewiek, Alexia Tyler King, Tarun N. Bhatia, Anna N. Ligezka, Karen Driesen, Rameen Shah, Bart Ghesquière, Akhilesh Pandey, Nael Nadif Kasri, Steven A. Sloan, Eva Morava, Tamas Kozicz   +13 more
doaj   +1 more source

Staphylococcus aureus Extracellular Vesicles Enhance PslE‐Mediated Pathogenesis in Pseudomonas aeruginosa

MicrobiologyOpen, Volume 15, Issue 1, February 2026.
PslE is essential for the ability of S. aureus‐derived extracellular vesicles to enhance P. aeruginosa pathogenicity. ABSTRACT Coinfection of Pseudomonas aeruginosa (P. aeruginosa) and Staphylococcus aureus (S. aureus) is frequently observed. Our previous study demonstrated that S. aureus‐derived extracellular vesicles (SaEVs) promote P.
Phawinee Subsomwong, Rojana Sukchawalit, Naoko Watabe, Akio Nakane, Krisana Asano   +4 more
wiley   +1 more source