Results 101 to 110 of about 5,529 (148)

Congenital disorder of glycosylation type Ia in a Chinese family: Function analysis of a novel PMM2 complex heterozygosis mutation

Molecular Genetics and Metabolism Reports
Congenital disorder of glycosylation type Ia (CDG-Ia) is an autosomal recessive genetic disease caused by a mutation in the phosphomannomutase 2 (PMM2) gene. We have identified a 13-month-old boy who has been diagnosed with CDG-Ia.
Dan Zhong, Xiujuan Huang, Taoshan Feng, Jieqing Zeng, Shanshan Gu, Fan Ning, Yue Yang, Jinyuan Zhu, Yajun Wang, Riling Chen, Guoda Ma   +10 more
doaj   +1 more source

Transcriptomic analysis identifies dysregulated pathways and therapeutic targets in PMM2-CDG

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
PMM2-CDG (MIM # 212065), the most common congenital disorder of glycosylation, is caused by the deficiency of phosphomannomutase 2 (PMM2). It is a multisystemic disease of variable severity that particularly affects the nervous system; however, its molecular pathophysiology remains poorly understood. Currently, there is no effective treatment.
Gallego, Diana, Serrano, Mercedes, Cordoba-Caballero, Jose, Gámez, Alejandra, Seoane, Pedro, Perkins, James R., Ranea, Juan A.G., Pérez, Belén   +7 more
openaire   +5 more sources

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

PMM2-CDG [PDF]

, 2020
openaire   +1 more source

In Silico Analysis of Phosphomannomutase-2 Dimer Interface Stability and Heterodimerization with Phosphomannomutase-1

Molecules
Phosphomannomutase 2 (PMM2) catalyzes the interconversion of mannose-6-phosphate and mannose-1-phosphate, a key step in the biosynthesis of GDP-mannose for N-glycosylation. Its deficiency is the most common cause of congenital disorders of glycosylation (
Bruno Hay Mele, Jessica Bovenzi, Giuseppina Andreotti, Maria Vittoria Cubellis, Maria Monticelli   +4 more
doaj   +1 more source

Multiorgan involvement and genetic spectrum of 20 Chinese patients with PMM2-CDG

Molecular Genetics and Metabolism
The most common congenital disorders of glycosylation (CDG) is the phosphomannomutase 2 (PMM2) deficiency (PMM2-CDG). PMM2-CDG is a complex genetic disorder that often found in infancy or early childhood with a clinically heterogeneous variety of neurological and non- neurological symptoms.
Huiting, Zhang, Jingtao, Zhang, Weimeng, Ma, Xue, Ma, Ruxuan, He, Yuan, Ding, Yupeng, Liu, Wenyue, Zhang, Hui, Dong, Yao, Zhang, Miao, He, Yanling, Yang   +11 more
openaire   +2 more sources

Phosphomannomutase deficiency (PMM2-CDG) : ataxia and cerebellar assessment

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 ...
Gort, Laura, Pérez, Belén, Fons, Carmen, Felipe, Ana, García-Cazorla, Angels, O'Callaghan, M. Mar, Macaya Ruiz, Alfons, Artuch, Rafael, Cuadras, Daniel, Jaeken, Jaak, Pérez-Cerdá, Celia, de Diego, Víctor, Briones, Paz, Girós, Marisa, Hospital Universitari Vall d'Hebron. Secció de Neurologia Pediàtrica, Velázquez, Ramón, Muchart, Jordi, Poo, M. Pilar, Pérez-Dueñas, Belén, Boix, Cristina, Universitat Autònoma de Barcelona, Robles, Bernabé, Serrano, Mercedes, Carratalá, Francisco   +23 more
core  

4th World Conference on CDG for Families and Professionals-Genetic modifiers for PMM2-CDG

, 2019
Genetic modifiers for PMM2 ...
G Andreotti
core  

Characterization of two unusual truncating PMM2 mutations in two CDG-Ia patients. [PDF]

, 2007
Congenital disorders of glycosylation type Ia (CDG-Ia) is a recessive metabolic disorder caused by mutations in the PMM2 gene and characterized by a defect in the synthesis of N-glycans.
Chabas, A., Foulquier, F., Sanchez-Valverde, F., Briones, P., Adamowicz, M., Schollen, E., Matthijs, G., Keldermans, L., Pronicka, E., Wevers, R.A.   +9 more
core  

Protease-dependent defects in N-cadherin processing drive PMM2-CDG pathogenesis. [PDF]

JCI Insight, 2021
Klaver EJ, Dukes-Rimsky L, Kumar B, Xia ZJ, Dang T, Lehrman MA, Angel P, Drake RR, Freeze HH, Steet R, Flanagan-Steet H.   +10 more
europepmc   +1 more source