Results 151 to 160 of about 25,010,716 (171)

Beneficial effects of Glc-1,6-P2 modulation on mutant phosphomannomutase-2.

Biochimica et Biophysica Acta (BBA) - Molecular Cell Research
The metabolite Glucose-1,6-bisphosphate (Glc-1,6-P2) plays a vital role in human metabolism, and is a crucial activator and stabilizer for phosphomannomutase-2 (PMM2) - mutations within this protein propagate the most common congenital disorder of ...
M. Monticelli, Debora Paris, M. C. Monti, E. Morretta, Zuzana Pakanová, Marek Nemčovič, Rebeka Kodríková, M. Cubellis, G. Andreotti   +8 more
semanticscholar   +4 more sources

Incidence and prevalence of phosphomannomutase 2-congenital disorder of glycosylation: Past, present, and future.

Molecular Genetics and Metabolism
Phosphomannomutase 2-congenital disorder of glycosylation (PMM2-CDG) accounts for about 60 % of all CDGs and is caused by pathogenic variants of the gene encoding PMM2, which catalyzes an essential early step in N-linked glycosylation.
Andrew C. Edmondson, T. Honzík, Christina Lam, K. Õunap, Peter McWilliams, E. Morava   +5 more
semanticscholar   +2 more sources

Clinical and molecular diagnosis of non‐phosphomannomutase 2 N‐linked congenital disorders of glycosylation in Spain

Clinical Genetics, 2019
The congenital disorders of glycosylation (CDG) are defects in glycoprotein and glycolipid glycan synthesis and attachment. They affect multiple organ/systems, but non‐specific symptoms render the diagnosis of the different CDG very challenging ...
C. Medrano, A. Vega, R. Navarrete, M. J. Ecay, Rocío Calvo, S. I. Pascual, Mónica Ruiz-Pons, L. Toledo, I. García-Jiménez, I. Arroyo, A. Campo, M. Couce, M. R. Domingo-Jiménez, M. García-Silva, L. González-Gutiérrez-Solana, L. Hierro, E. Martín‐Hernández, M. Martínez‐Pardo, S. Roldán, M. Tomás, J. C. Cabrera, Francisco Martínez-Bugallo, L. Martín-Viota, I. Vitoria-Miñana, D. Lefeber, M. Girós, M. Serrano Gimare, M. Ugarte, B. Pérez, C. Pérez‐Cerdá   +29 more
semanticscholar   +7 more sources

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Genotypes and estimated prevalence of phosphomannomutase 2 deficiency in Turkey differ significantly from those in Europe

American Journal of Medical Genetics Part A, 2020
Phosphomannomutase 2 deficiency (PMM2‐CDG) is an autosomal recessive congenital disorder of glycosylation, characterized by multisystem phenotypes, mostly including neurological involvement.
Yılmaz Yıldız, M. Arslan, Gokalp Celik, C. Kasapkara, S. Ceylaner, A. Dursun, H. Sivri, T. Coşkun, A. Tokatlı   +8 more
semanticscholar   +3 more sources

Clinical severity and cardiac phenotype in phosphomannomutase 2‐congenital disorders of glycosylation : Insights into genetics and management recommendations [PDF]

Journal of Inherited Metabolic Disease
Cardiac involvement (CI) in phosphomannomutase 2‐congenital disorders of glycosylation (PMM2‐CDG) is part of the multisystemic presentation contributing to high mortality rates.
Veronika Holubová, R. Barone, Stephanie Grunewald, M. Tesařová, Hana Hansíková, J. Augustínová, J. Sykut-Cegielska, Francesca De Nictolis, Unai Diaz-Moreno, Ramyia Elangovan, Florencia Epifani, Serena Gasperini, M. Jansen, Dirk Lefeber, Dorota Maksym-Gasiorek, M. Diego, K. Õunap, Fabio Pettinato, H. Põder, D. Rymen, M. Vals, Mercedes Serrano, P. Witters, T. Honzík   +23 more
semanticscholar   +5 more sources

Cystic kidney diseases associated with mutations in phosphomannomutase 2 promotor: a large spectrum of phenotypes

Pediatric Nephrology, 2021
Co-occurrence of polycystic kidney disease and hyperinsulinemic hypoglycemia has been reported in children in a few families associated with a variant in the promotor of the PMM2 gene, at position -167 upstream of the coding sequence. PMM2 encodes phosphomannomutase 2, a key enzyme in N-glycosylation.
G. Dorval, C. Jeanpierre, V. Moriniére, Carole Tournant, B. Bessières, T. Attié-Bittach, J. Amiel, Emmanuel Spaggari, Y. Ville, É. Merieau, M. Gubler, S. Saunier, L. Heidet   +12 more
semanticscholar   +3 more sources

Phosphomannomutase 2-congenital disorder of glycosylation presenting with very early onset inflammatory bowel disease

Indian Journal of Gastroenterology
Meltem Comert, Tugba Guler, A. Ergani, Meltem Gumus, E. M. Ozdemir, H. Artaç   +5 more
semanticscholar   +3 more sources

Severe Hepatitis: An Unusual Presentation of Phosphomannomutase 2 Deficiency

2021
Portuguese Journal of Pediatrics, Vol. 52 No. 4 (2021)
Pinto Silva, Catarina, Almeida, Joana, Diogo, Luísa, Nobre, Susana   +3 more
openaire   +1 more source

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

Glycobiology, 2021
Congenital disorders of glycosylation (CDG) include 150 disorders constituting in genetically and clinically heterogeneous diseases, showing significant glycoprotein hypoglycosylation that leads to pathological consequences on multiple organs and systems
A. Parrado, G. Rubio, M. Serrano, M. E. de la Morena-Barrio, Salvador Ibáñez-Micó, Natalia Ruiz-Lafuente, R. Schwartz-Albiez, A. Esteve-Solé, L. Alsina, J. Corral, T. Hernández-Caselles   +10 more
semanticscholar   +1 more source

Clinical picture of S-adenosylhomocysteine hydrolase deficiency resembles phosphomannomutase 2 deficiency

Molecular Genetics and Metabolism, 2012
We report on the seventh known patient with S-adenosylhomocysteine hydrolase (SAHH) deficiency presenting at birth with features resembling phosphomannomutase 2 (PMM2-CDG Ia) deficiency. Plasma methionine and total homocysteine levels were normal at 2 months and increased only after the 8th month of age.
Honzik, Tomas, Magner, Martin, Krijt, Jakub, Sokolova, Jitka, Vugrek, Oliver, Belužić, Robert, Barić, Ivo, Hansikova, Hana, Elleder, Milan, Vesela, Katerina, Bauerova, Lenka, Ondruskova, Nina, Jesina, Pavel, Zeman, Jiri, Kozich, Viktor   +14 more
openaire   +4 more sources