Results 91 to 100 of about 24,426,163 (152)

Carbohydrate-deficient glycoprotein syndrome type IA (phosphomannomutase-deficiency). [PDF]

, 1999
The carbohydrate-deficient glycoprotein or CDG syndromes (OMIM 212065) are a recently delineated group of genetic, multisystem diseases with variable dysmorphic features.
Carchon, H, Matthijs, G, Jaeken, J, Matthijs, Gert, Van Schaftingen, E, Van Schaftingen, Emile, Jaeken, Jaak, Carchon, Hubert   +7 more
core   +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

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 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

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

Additional file 1 of Dietary mannose supplementation in phosphomannomutase 2 deficiency (PMM2-CDG)

, 2020
Additional file 1: Figure S1. Layout showing the metabolic fate of mannose in mammalian cells. PMM2 is an essential enzyme catalyzing the conversion of mannose-6-phosphate to mannose-1- phosphate, which is the first step in the synthesis. Figure S2.
Taday, Roman, Grüneberg, Marianne, DuChesne, Ingrid, Reunert, Janine, Marquardt, Thorsten   +4 more
openaire   +1 more source

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

Computational Investigation of Smooth Muscle Cell Plasticity in Atherosclerosis and Vascular Calcification: Insights from Differential Gene Expression Analysis of Microarray Data

Bioengineering
The dedifferentiation of smooth muscle cells (SMCs) is the main cause of atherosclerosis and vascular calcification. This study integrated the gene expression data of multiple microarrays to identify relevant marker molecules.
Daniel Liu, Jimmy Kuo, Chorng-Horng Lin
doaj   +1 more source

Targeted metabolomic evaluation of peripheral blood mononucleated cells from patients with PMM2-CDG

Scientific Reports
Phosphomannomutase-2 (PMM2) deficiency represents the most common congenital disorder of glycosylation (CDG). Currently, little is known about cell metabolic alterations occurring in these patients.
Renata Mangione, Lara Cirnigliaro, Miriam Wissam Saab, Fabio Pettinato, Alessandro Barbato, Alfio Distefano, Enrico La Spina, Giuseppe Lazzarino, Giovanni Li Volti, Lucia Longhitano, Daniele Tibullo, Alessandra Pittalà, Cesarina Giallongo, Valentina Di Pietro, Giovanni Tabbi, Salvatore Antonio Longo, Andrea Graziani, Barbara Tavazzi, Angela Maria Amorini, Giacomo Lazzarino, Rita Barone   +20 more
doaj   +1 more source