Results 21 to 30 of about 5,529 (148)

A complement C4–derived glycopeptide is a biomarker for PMM2-CDG [PDF]

JCI Insight
BACKGROUND Diagnosis of PMM2-CDG, the most common congenital disorder of glycosylation (CDG), relies on measuring carbohydrate-deficient transferrin (CDT) and genetic testing. CDT tests have false negatives and may normalize with age.
Kishore Garapati, Rohit Budhraja, Mayank Saraswat, Jinyong Kim, Neha Joshi, Gunveen S. Sachdeva, Anu Jain, Anna N. Ligezka, Silvia Radenkovic, Madan Gopal Ramarajan, Savita Udainiya, Kimiyo Raymond, Miao He, Christina Lam, Austin Larson, Andrew C. Edmondson, Kyriakie Sarafoglou, Nicholas B. Larson, Hudson H. Freeze, Matthew J. Schultz, Tamas Kozicz, Eva Morava, Akhilesh Pandey   +22 more
doaj   +4 more sources

Genotype-Phenotype Correlations in PMM2-CDG. [PDF]

Genes (Basel), 2021
PMM2-CDG is a rare disease, causing hypoglycosylation of multiple proteins, hence preventing full functionality. So far, no direct genotype–phenotype correlations have been identified. We carried out a retrospective cohort study on 26 PMM2-CDG patients.
Vaes L, Rymen D, Cassiman D, Ligezka A, Vanhoutvin N, Quelhas D, Morava E, Witters P.   +7 more
europepmc   +7 more sources

Sorbitol Is a Severity Biomarker for PMM2-CDG with Therapeutic Implications. [PDF]

Ann Neurol, 2021
ObjectiveEpalrestat, an aldose reductase inhibitor increases phosphomannomutase (PMM) enzyme activity in a PMM2‐congenital disorders of glycosylation (CDG) worm model. Epalrestat also decreases sorbitol level in diabetic neuropathy. We evaluated the genetic, biochemical, and clinical characteristics, including the Nijmegen Progression CDG Rating Scale (
Ligezka AN, Radenkovic S, Saraswat M, Garapati K, Ranatunga W, Krzysciak W, Yanaihara H, Preston G, Brucker W, McGovern RM, Reid JM, Cassiman D, Muthusamy K, Johnsen C, Mercimek-Andrews S, Larson A, Lam C, Edmondson AC, Ghesquière B, Witters P, Raymond K, Oglesbee D, Pandey A, Perlstein EO, Kozicz T, Morava E.   +25 more
europepmc   +6 more sources

Renal involvement in PMM2-CDG, a mini-review [PDF]

Molecular Genetics and Metabolism, 2018
Phosphomannomutase 2 deficiency (PMM2-CDG) is the most common N-linked glycosylation disorder. The majority of patients present with a multisystem phenotype, including central nervous system involvement, hepatopathy, gastrointestinal and cardiac symptoms, endocrine dysfunction and abnormal coagulation.
Altassan, Ruqaiah, Witters, Peter, Saifudeen, Zubaida, Quelhas, Dulce, Jaeken, Jaak, Levtchenko, Elena, Cassiman, David, Morava, Eva   +7 more
openaire   +3 more sources

Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment [PDF]

Orphanet Journal of Rare Diseases, 2015
Phosphomannomutase deficiency (PMM2-CDG) is the most frequent congenital disorder of glycosylation. The cerebellum is nearly always affected in PMM2-CDG patients, a cerebellar atrophy progression is observed, and cerebellar dysfunction is their main daily functional limitation. Different therapeutic agents are under development, and clinical evaluation
García-Cazorla, Angels, Pérez-Dueñas, Belén, Serrano, Mercedes, Carratalá, Francisco, Girós, Marisa, Briones, Paz, Gort, Laura, Cuadras, Cristina, Jaeken, Jaak, Artuch, Rafael, De Diego, Víctor, Muchart, Jordi, Cuadras, Daniel, Felipe, Ana, Macaya, Alfons, Pérez González, María Belén, Velázquez, Ramón, Boix, Cristina, Robles, Bernabé, O'Callaghan, M. Mar, Poo, Pilar, Fons, Carmen, Pérez-Cerdá, Celia   +22 more
core   +9 more sources

Thrombotic complications in patients with PMM2-CDG

Molecular Genetics and Metabolism, 2013
Many proteins regulating coagulation, including factor IX, factor XI, Antithrombin-III, Protein C and Protein S are deficient or decreased in activity in congenital disorders of glycosylation (CDG). Because of the imbalance of coagulation and anticoagulation factors, some patients develop acute vascular events, such as thrombosis.
Linssen, M., Mohamed, M., Wevers, R.A., Wevers, R.A., Wevers, R.A., Lefeber, D.J., Lefeber, D.J., Morava, E., Morava, E.   +8 more
openaire   +4 more sources

D-galactose supplementation in individuals with PMM2-CDG: results of a multicenter, open label, prospective pilot clinical trial [PDF]

Orphanet Journal of Rare Diseases, 2021
PMM2-CDG is the most prevalent congenital disorder of glycosylation (CDG) with only symptomatic therapy. Some CDG have been successfully treated with D-galactose. We performed an open-label pilot trial with D-galactose in 9 PMM2-CDG patients.
Peter Witters, Hans Andersson, Jaak Jaeken, Laura Tseng, Clara D. M. van Karnebeek, Dirk J. Lefeber, David Cassiman, Eva Morava   +7 more
doaj   +2 more sources

Exploring a Circulating miRNA Signature for PMM2-CDG: Initial Insights Toward Diagnosis, Stratification, and Monitoring. [PDF]

J Inherit Metab Dis
ABSTRACT Phosphomannomutase deficiency (PMM2‐CDG) is the most common congenital disorder of glycosylation, characterized by variable early‐onset neurological (hypotonia, cerebellar syndrome, developmental delay) and multi‐organ manifestations. Although several clinical trials are ongoing, current biomarkers lack prognostic or monitoring utility ...
Epifani F, Cabus L, Nolasco GA, Bolasell M, Pérez J, Alcalá A, Fernández P, Lizano E, Márquez G, Belmonte S, Carbonell-Sala S, Lagarde J, Curado J, Hernando-Davalillo C, Serrano M.   +14 more
europepmc   +2 more sources

Three families with mild PMM2‐CDG and normal cognitive development [PDF]

American Journal of Medical Genetics Part A, 2017
Congenital disorders of glycosylation (CDG) are caused by defective glycosylation of proteins and lipids. PMM2‐CDG is the most common subtype among the CDG. The severity of PMM2‐CDG is variable. Patients often have a recognizable phenotype with neurological and multisystem symptoms that might cause early death.
Vals, M.A., Morava, E., Teeäär, K., Zordania, R., Pajusalu, S., Lefeber, D.J., Lefeber, D.J., Õunap, K.   +7 more
openaire   +4 more sources

Novel Splicing Variant in the PMM2 Gene in a Patient With PMM2-CDG Syndrome Presenting With Pericardial Effusion: A Case Report [PDF]

Frontiers in Genetics, 2020
Congenital disorders of glycosylation (CDG) are a rapidly growing family of genetic diseases with the phosphomannomutase 2 (PMM2)-CDG being the most common form of CDG.
Katerina Slaba, Hana Noskova, Petra Vesela, Jana Tuckova, Hana Jicinska, Tomas Honzik, Hana Hansikova, Petra Kleiblova, Petr Stourac, Petr Jabandziev, Petr Jabandziev, Ondrej Slaby, Ondrej Slaby, Dagmar Prochazkova, Dagmar Prochazkova   +14 more
doaj   +2 more sources