Results 131 to 140 of about 1,755 (160)

Abnormal fat distribution in PMM2-CDG

Molecular Genetics and Metabolism, 2013
We hypothesize that abnormal fat distribution, a common feature of PMM2-CDG, is associated with abnormal perinatal hormone regulation. We assessed 32 cases with PMM2-CDG, for the comorbidity of hypoglycemia/hyperinsulinism and fat pads. Ninety percent of patients with hypoketotic hypoglycemia and/or hyperinsulinism had abnormal fat distribution, while ...
E Morava
exaly   +4 more sources

Assessing the effects of PMM2 variants on protein stability

Molecular Genetics and Metabolism, 2021
Phosphomannomutase 2 deficiency, PMM2-CDG, is the most frequent disorder of protein N-glycosylation. It is an autosomal recessive disease with a broad clinical and biochemical phenotype. Trying to predict the impact of novel variants is often a challenge due to the high number of variants and the difficulty to establish solid genotype-phenotype ...
D, Quelhas, J, Carneiro, M, Lopes-Marques, J, Jaeken, E, Martins, J F, Rocha, S S, Teixeira Carla, C R, Ferreira, S F, Sousa, L, Azevedo   +9 more
openaire   +2 more sources

AZATAX: Acetazolamide safety and efficacy in cerebellar syndrome in PMM2 congenital disorder of glycosylation (PMM2‐CDG)

Annals of Neurology, 2019
ObjectivePhosphomannomutase deficiency (PMM2 congenital disorder of glycosylation [PMM2‐CDG]) causes cerebellar syndrome and strokelike episodes (SLEs). SLEs are also described in patients with gain‐of‐function mutations in the CaV2.1 channel, for which acetazolamide therapy is suggested.
Antonio F, Martínez-Monseny, Mercè, Bolasell, Laura, Callejón-Póo, Daniel, Cuadras, Verónica, Freniche, Débora C, Itzep, Susanna, Gassiot, Pedro, Arango, Didac, Casas-Alba, Eugenia, de la Morena, Javier, Corral, Raquel, Montero, Celia, Pérez-Cerdá, Belén, Pérez, Rafael, Artuch, Jaak, Jaeken, Mercedes, Serrano   +16 more
openaire   +4 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   +3 more sources

Cysteine variants in PMM2 lead to protein instability and higher sensitivity to oxidative stress in PMM2-CDG

International Journal of Biological Macromolecules
PMM2-congenital disorder of glycosylation (PMM2-CDG) is caused by genetic defects in PMM2, the gene encoding phosphomannomutase 2. Effective therapies for this disorder remain elusive. Recent studies emphasize cysteine's vulnerability to oxidative modifications that can instigate disease by facilitating inter-protein disulfide bonding, reducing protein
Jingmiao, Sun, Ying, Zhang, Wei, Yu, Haidong, Fu, Ningqin, Lin, Fan, Yu, Xiangjun, Chen, Jianhua, Mao, Lidan, Hu   +8 more
openaire   +2 more sources

Retinal characteristics of the congenital disorder of glycosylation PMM2‐CDG

Journal of Inherited Metabolic Disease, 2013
AbstractThe congenital disorder of glycosylation, PMM2‐CDG, is associated with progressive photoreceptor degeneration, which causes a pigmentary retinopathy. We identified a sibling pair, mildly affected with PMM2‐CDG, who showed preserved photoreceptor function, but profound deficits of the ‘on‐pathway’ in the retina. This localises the site of early,
Dorothy A, Thompson, Ruth J, Lyons, Isabelle, Russell-Eggitt, Alki, Liasis, Herbert, Jägle, Stephanie, Grünewald   +5 more
openaire   +2 more sources

PMM2 intronic branch-site mutations in CDG-Ia

Molecular Genetics and Metabolism, 2006
Congenital Disorders of Glycosylation (CDG, OMIM#212065)-Ia is an autosomal recessive disorder, characterized by central nervous system dysfunction and multiorgan failure associated with mutations in the PMM2 gene. We report two patients who are compound heterozygotes with respect to two new intronic mutations that affect a highly conserved adenosine ...
Sandrine, Vuillaumier-Barrot, Christiane, Le Bizec, Pascale, De Lonlay, Nathalie, Madinier-Chappat, Anne, Barnier, Thierry, Dupré, Geneviève, Durand, Nathalie, Seta   +7 more
openaire   +2 more sources

Sensitivity of transferrin isoform analysis for PMM2-CDG

Molecular Genetics and Metabolism
Transferrin isoform analysis is an established laboratory test for congenital disorders of glycosylation (CDG). Despite its long history of clinical use, little has been published about its empirical sensitivity for specific conditions. We conducted a retrospective analysis of ten years of testing data and report our experience with transferrin testing
Patrica L, Hall, Kris, Liedke, Coleman, Turgeon, Amy, White, Gesele Bentz, Pino, Dawn, Peck, April, Studinski, Dimitar, Gavrilov, Silvia, Tortorelli, Devin, Oglesbee, Dietrich, Matern, Kimiyo, Raymond, Matthew J, Schultz   +12 more
openaire   +2 more sources

Sugar-bisphosphates to cure PMM2-CDG?

2021
INTRODUCTION PMM2-CDG is the most common congenital disorder of glycosylation (CDGs). It is caused by mutations in the gene PMM2, encoding the enzyme phosphomannomutase-2 (PMM2). A defective PMM2 leads to GDP- mannose deficiency and hypoglycosylation of numerous glycoproteins. At the present, PMM2-CDG has no cure. The use of pharmacological chaperones (
M. Allocca, M. Monticelli, MV Cubellis, G. Andreotti   +3 more
openaire   +1 more source

PMM2-CDG: Phenotype and genotype in four affected family members

Gene, 2013
Congenital disorders of glycosylation (CDG) are genetic defects in protein and lipid glycosylation. PMM2-CDG is the most prevalent protein N-glycosylation disorder with more than 700 reported patients. Here we report on a large Italian family with four affected members and three mutations.
Bortot, Barbara, Cosentini, Dora, Faletra, Flavio, Biffi, Stefania, DE MARTINO, ELEONORA, Carrozzi, Marco, Severini, Giovanni Maria   +6 more
openaire   +3 more sources