Results 151 to 160 of about 2,410 (179)

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

A functional platform for the selection of pathogenic variants of PMM2 amenable to rescue via the use of pharmacological chaperones [PDF]

Human Mutation, 2022
Different strategies are being investigated for treating PMM2-CDG, the most common congenital disorder of glycosylation. The use of pharmacochaperones (PCs) is one of the most promising.
Santiago Ramón-Maiques, Alejandra Gamez, Belén Pérez   +2 more
exaly   +2 more sources

Neurological manifestations in PMM2-congenital disorders of glycosylation (PMM2-CDG): Insights into clinico-radiological characteristics, recommendations for follow-up, and future directions

Genetics in Medicine
In the absence of prospective data on neurological symptoms, disease outcome, or guidelines for system specific management in phosphomannomutase 2-congenital disorders of glycosylation (PMM2-CDG), we aimed to collect and review natural history data.Fifty-one molecularly confirmed individuals with PMM2-CDG enrolled in the Frontiers of Congenital ...
Anna Ligęzka, Eva Morava, Marc C. Patterson   +2 more
exaly   +4 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

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

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

Identification and localization of two mouse phosphomannomutase genes, Pmm1 and Pmm2

Gene, 2001
Phosphomannomutases catalyze the reversible conversion of mannose 6-phosphate to mannose 1-phosphate. In humans, two different isozymes have recently been identified, PMM1 and PMM2. We have previously shown that mutations in the PMM2 gene cause the most frequent type of the congenital disorders of glycosylation, CDG-Ia. Here, we present data on the two
L, Heykants, E, Schollen, S, Grünewald, G, Matthijs   +3 more
openaire   +2 more sources

Pharmacological Chaperoning: A Potential Treatment for PMM2-CDG.

Human mutation, 2018
The congenital disorder of glycosylation (CDG) due to phosphomannomutase 2 deficiency (PMM2-CDG), the most common N-glycosylation disorder, is a multisystem disease for which no effective treatment is available. The recent functional characterization of disease-causing mutations described in patients with PMM2-CDG led to the idea of a therapeutic ...
Patricia, Yuste-Checa, Sandra, Brasil, Alejandra, Gámez, Jarl, Underhaug, Lourdes R, Desviat, Magdalena, Ugarte, Celia, Pérez-Cerdá, Aurora, Martinez, Belén, Pérez   +8 more
openaire   +1 more source

Phosphomannomutase deficiency (PMM2-CDG)

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
Serrano, Mercedes||, De Diego, Victor, Muchart, Jordi, Cuadras, Daniel||, Felipe-Rucián, Ana||, Macaya Ruiz, Alfons||, Velázquez-Fragua, Ramón, Poo, M. Pilar, Fons, Carmen||, O'Callaghan, Maria del Mar||, García-Cazorla, Angels||, Boix, Cristina, Robles, Bernabé, Carratalá, Francisco, Girós, Marisa, Briones, Paz, Gort, Laura||, Artuch, R.||, Pérez-Cerdá, Celia, Jaeken, Jaak, Pérez, Belén||, Pérez-Dueñas, Belén||   +21 more
openaire   +1 more source

Screening for mutations in phosphomannomutase 2 (PMM2) gene

Glycoconjugate journal, 2005
Congenital disorder of glycosylation (CDG) Ia (MIM≠ 212065) is an autosomal recessive multi-organ disease characterized by severe dysfunction of central and peripheral nervous system. It is caused by a defective N-linked glycosylation due to phosphomannomutase (PMM) deficiency as a consequence of mutations in PMM2 gene. More than 85 different mutations
Šupraha-Goreta, Sandra, Štimac, Hrvoje, Flogel-Mršić, Mirna, Dumić, Jerka   +3 more
openaire   +2 more sources