Results 71 to 80 of about 2,264 (140)

D‐Mannose Alleviates Type 2 Diabetes and Rescues Multi‐Organ Deteriorations by Controlling Release of Pathological Extracellular Vesicles

Exploration, Volume 5, Issue 5, October 2025.
In this study, Zhang and colleagues show that drinking‐water supplementation of D‐mannose serves as an effective and potential therapeutic of type 2 diabetes, with improvement of both liver health and bone mass. The effect is exerted through suppressing macrophage release of extracellular vesicles based on metabolic control of CD36 expression.
Sha Zhang, Kai Zhang, Chen‐Xi Zheng, Ying‐Feng Gao, Guo‐Rong Deng, Xu Zhang, Yuan Yuan, Ting Jia, Si‐Yuan Tang, Guang‐Xiang He, Zhen Gong, Na Zhao, Bo Ma, Hua Tian, Hong Zhang, Zhe Li, Yong‐Chang Di‐Wu, Yi‐Han Liu, Liang Kong, Jing Ma, Yan Jin, Bing‐Dong Sui   +21 more
wiley   +1 more source

Expanding the phenotype of phosphomannomutase-2 gene congenital disorder of glycosylation: Cervical dystonia

Journal of the Neurological Sciences, 2017
Fil: Rossi, Malco Damian. Fundacion para la Lucha contra las Enfermedades Neurologicas de la Infancia; Argentina.
Malco Rossi, Alex Medina Escobar, Lucia Ameghino, Marcelo Merello   +3 more
openaire   +2 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. Efforts to derive an accurate prevalence estimate for this often life-threatening disorder, for which there are ...
Andrew C, Edmondson, Tomáš, Honzík, Christina, Lam, Katrin, Õunap, Peter, McWilliams, Eva, Morava   +5 more
openaire   +2 more sources

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

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   +8 more sources

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

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   +5 more sources

Well-known surface and extracellular antigens of pathogenic microorganisms among the immunodominant proteins of the infectious microalgae Prototheca zopfii

Frontiers in Cellular and Infection Microbiology, 2015
Microalgae of the genus Prototheca (P.) are associated with rare but severe infections (protothecosis) and represent a potential zoonotic risk. Genotype (GT) 2 of P. zopfii has been established as pathogenic agent for humans, dogs and cattle, whereas GT1
Alexandra eIrrgang, Jayaseelan eMurugaiyan, Christoph eWeise, Walid eAzab, Uwe eRoesler   +4 more
doaj   +1 more source