Results 111 to 120 of about 4,129 (176)

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

Molecular analysis of phosphomannomutase (PMM) genes reveals a unique PMM duplication event in diverse Triticeae species and the main PMM isozymes in bread wheat tissues

BMC Plant Biology, 2010
Background Phosphomannomutase (PMM) is an essential enzyme in eukaryotes. However, little is known about PMM gene and function in crop plants. Here, we report molecular evolutionary and biochemical analysis of PMM genes in bread wheat and related ...
Bai Shiwei, Wang Guanfeng, Li Shiming, Qian Weiqiang, Chen Jing, Hao Lifang, Liu Xin, Li Bin, Li Yiwen, Yu Chunmei, Ye Hua, Qin Huanju, Shen Qianhua, Chen Liangbiao, Zhang Aimin, Wang Daowen   +15 more
doaj   +1 more source

A comprehensive update of genotype–phenotype correlations in PMM2-CDG: insights from molecular and structural analyses

Orphanet Journal of Rare Diseases
PMM2-CDG (phosphomannomutase 2-deficiency) is the most prevalent N-glycosylation disorder and results from impairments of PMM2 activity. This disease presents a large variety of pathogenic variants, which cause a wide phenotypical spectrum.
Tiago Oliveira, Ricardo Ferraz, Luísa Azevedo, Dulce Quelhas, João Carneiro, Jaak Jaeken, Sérgio F. Sousa   +6 more
doaj   +1 more source

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

International clinical guidelines for the management of phosphomannomutase 2‐congenital disorders of glycosylation: Diagnosis, treatment and follow up

Journal of Inherited Metabolic Disease, 2019
AbstractPhosphomannomutase 2 (PMM2‐CDG) is the most common congenital disorder of N‐glycosylation and is caused by a deficient PMM2 activity. The clinical presentation and the onset of PMM2‐CDG vary among affected individuals ranging from a severe antenatal presentation with multisystem involvement to mild adulthood presentation limited to minor ...
Altassan, R., Peanne, R., Jaeken, J., Barone, R., Bidet, M., Borgel, D., Brasil, S., Cassiman, D., Cechova, A., Coman, D., Corral, J., Correia, J., de la Morena-Barrio, M.E., de Lonlay, P., Dos Reis, V., Ferreira, C.R., Fiumara, A., Francisco, R., Freeze, H., Funke, S., Gardeitchik, T., Gardeitchik, T., Gardeitchik, T., Gert, M., Girad, M., Giros, M., Grunewald, S., Hernandez-Caselles, T., Honzik, T., Hutter, M., Krasnewich, D., Lam, C., Lee, J., Lefeber, D.J., Marques-de-Silva, D., Martinez, A.F., Moravej, H., Ounap, K., Pascoal, C., Pascreau, T., Patterson, M., Quelhas, D., Raymond, K., Sarkhail, P., Schiff, M., Seroczynska, M., Serrano, M., Seta, N., Sykut-Cegielska, J., Thiel, C, Tort, F., Vals, M.A., Videira, P., Witters, P., Zeevaert, R., Morava, E.   +55 more
openaire   +7 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
AbstractCardiac involvement (CI) in phosphomannomutase 2‐congenital disorders of glycosylation (PMM2‐CDG) is part of the multisystemic presentation contributing to high mortality rates. The most common cardiac manifestations are pericardial effusion, cardiomyopathy, and structural heart defects.
Holubova, V., Barone, R., Grunewald, S., Tesařová, M., Hansíková, H., Augustínová, J., Sykut-Cegielska, J., De Nictolis, F., Diaz-Moreno, U., Elangovan, R., Epifani, F., Gasperini, S., Janssen, M.C.H., Janssen, M.C.H., Lefeber, D.J., Lefeber, D.J., Maksym-Gasiorek, D., Diego, M., Ounap, K., Pettinato, F., Põder, H., Rymen, D., Vals, M.A., Serrano, M., Witters, P., Honzík, T.   +25 more
openaire   +4 more sources

Liver transplantation recovers hepatic N-glycosylation with persistent IgG glycosylation abnormalities: Three-year follow-up in a patient with phosphomannomutase-2-congenital disorder of glycosylation. [PDF]

Mol Genet Metab, 2023
Tahata S, Weckwerth J, Ligezka A, He M, Lee HE, Heimbach J, Ibrahim SH, Kozicz T, Furuya K, Morava E.   +9 more
europepmc   +1 more source

Phosphomannomutase 2 (PMM2) variants leading to hyperinsulinism-polycystic kidney disease are associated with early-onset inflammatory bowel disease and gastric antral foveolar hyperplasia. [PDF]

Hum Genet, 2023
Kiparissi F, Dastamani A, Palm L, Azabdaftari A, Campos L, Gaynor E, Grünewald S, Uhlig HH, Kleta R, Böckenhauer D, Jones KDJ.   +10 more
europepmc   +1 more source

ALG12 mannosyltransferase defect in congenital disorder of glycosylation type lg [PDF]

, 2017
In the endoplasmic reticulum (ER) of eukaryotes, N-linked glycans are first assembled on the lipid carrier dolichyl pyrophosphate. The GlcNAc2Man9Glc3 oligosaccharide is transferred to selected asparagine residues of nascent polypeptides.
Aebi, Markus, Berger, Eric G., Frank, Christian G., Grubenmann, Claudia E., Hennet, Thierry, Kjaergaard, Susanne   +5 more
core  

Revisiting the immunopathology of congenital disorders of glycosylation: an updated review

Frontiers in Immunology
Glycosylation is a critical post-translational modification that plays a pivotal role in several biological processes, such as the immune response.
Carlota Pascoal, Carlota Pascoal, Carlota Pascoal, Rita Francisco, Rita Francisco, Rita Francisco, Patrícia Mexia, Patrícia Mexia, Patrícia Mexia, Beatriz Luís Pereira, Beatriz Luís Pereira, Beatriz Luís Pereira, Pedro Granjo, Pedro Granjo, Pedro Granjo, Helena Coelho, Helena Coelho, Mariana Barbosa, Mariana Barbosa, Mariana Barbosa, Vanessa dos Reis Ferreira, Vanessa dos Reis Ferreira, Vanessa dos Reis Ferreira, Paula Alexandra Videira, Paula Alexandra Videira, Paula Alexandra Videira   +25 more
doaj   +1 more source