Results 1 to 10 of about 3,903 (190)

<i>In Silico</i> Analysis of Phosphomannomutase-2 Dimer Interface Stability and Heterodimerization with Phosphomannomutase-1. [PDF]

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 (
Hay Mele B, Bovenzi J, Andreotti G, Cubellis MV, Monticelli M.   +4 more
europepmc   +2 more sources

Immunopathology in PMM2-CDG: Defective glycosylation impact in the TNFα -TNFR1 signalling pathway. [PDF]

Front Immunol
IntroductionGlycosylation is a post-translational modification that plays a crucial role in immune system activity. Phosphomannomutase 2-Congenital Disorder of Glycosylation (PMM2-CDG) is a rare genetic disease affecting glycosylation with a multi ...
Pascoal C, Granjo P, Kodríková R, Falcão M, Santos AC, Teodoro I, Pakanová Z, Nemčovič M, Mucha J, Castro-Caldas M, Grosso AR, Dos Reis Ferreira V, Videira PA.   +12 more
europepmc   +2 more sources

Phosphomannomutase 2-congenital disorder of glycosylation: exploring the role of N-glycosylation on the endocrine axes. [PDF]

Front Endocrinol (Lausanne)
Congenital disorders of glycosylation (CDG) are a heterogeneous group of inborn errors of metabolism caused by impaired protein glycosylation. Among these, PMM2-CDG, caused by defective phosphomannomutase 2 activity and affecting protein N-glycosylation,
Del Medico G, Ferri L, Procopio E, Annibalini G, Barbieri E, Barone R, Guerrini R, Morrone A, Stagi S.   +8 more
europepmc   +2 more sources

Targeted metabolomic evaluation of peripheral blood mononucleated cells from patients with PMM2-CDG. [PDF]

Sci Rep
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.
Mangione R, Cirnigliaro L, Saab MW, Pettinato F, Barbato A, Distefano A, Spina E, Lazzarino G, Volti GL, Longhitano L, Tibullo D, Pittalà A, Giallongo C, Di Pietro V, Tabbi G, Longo SA, Graziani A, Tavazzi B, Amorini AM, Lazzarino G, Barone R.   +20 more
europepmc   +2 more sources

A comprehensive update of genotype-phenotype correlations in PMM2-CDG: insights from molecular and structural analyses. [PDF]

Orphanet J Rare Dis
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.
Oliveira T, Ferraz R, Azevedo L, Quelhas D, Carneiro J, Jaeken J, Sousa SF.   +6 more
europepmc   +2 more sources

Polymorphic variants of <i>ABCA1</i>, <i>PMM2</i>, and <i>ARHGEF12</i> genes and the risk of glaucoma in an Iranian population. [PDF]

Int J Ophthalmol
AIM: To examine whether rs2472493 and rs248032 in the ABCA1 gene, rs3785176 in the PMM2 gene, and rs11827818 in the ARHGEF12 gene contribute to primary open angle glaucoma (POAG) in an Iranian population. METHODS: Totally 82 POAG patients and 172 healthy
Shayannia A, Foroughi K, Emamian MH, Hashemi H, Fotouhi A.   +4 more
europepmc   +2 more sources

PHOSPHOMANNOMUTASE 2-CONGENITAL DISORDER OF GLYCOSYLATION: A CASE REPORT AND LITERATURE REVIE [PDF]

精准医学杂志, 2023
Objective To investigate the clinical and genetic features of patients with phosphomannomutase 2 (PMM2)-congenital disorder of glycosylation (CDG), and to provide a basis for the early diagnosis of PMM2-CDG. Methods A retrospective analysis was performed
WMENG Qiutong, ZHANG Tian, RAN Ni, YANG Zhaochuan, FU Peng, SHAN Yanchun
doaj   +1 more source

Mapping the diagnostic odyssey of congenital disorders of glycosylation (CDG): insights from the community. [PDF]

Orphanet J Rare Dis
Background Congenital disorders of glycosylation (CDG) are a group of rare metabolic diseases with heterogeneous presentations, leading to substantial diagnostic challenges, which are poorly understood.
Granjo P, Pascoal C, Gallego D, Francisco R, Jaeken J, Moors T, Edmondson AC, Kantautas KA, Serrano M, Videira PA, Dos Reis Ferreira V.   +10 more
europepmc   +2 more sources

Evaluation of Cell Models to Study Monocyte Functions in PMM2 Congenital Disorders of Glycosylation

Frontiers in Immunology, 2022
Congenital disorders of glycosylation (CDG) are inherited metabolic diseases characterized by mutations in enzymes involved in different steps of protein glycosylation, leading to aberrant synthesis, attachment or processing of glycans.
Paola de Haas, Marien I. de Jonge, Hans J. P. M. Koenen, Ben Joosten, Mirian C. H. Janssen, Mirian C. H. Janssen, Lonneke de Boer, Wiljan J. A. J. Hendriks, Dirk J. Lefeber, Dirk J. Lefeber, Alessandra Cambi   +10 more
doaj   +1 more source

Hyperinsulinemic Hypoglycemia Due to PMM2 Mutation in Two Siblings with Autosomal Recessive Polycystic Kidney Disease

Pediatric Reports, 2022
Background: Hyperinsulinemic hypoglycemia (HH) is an important cause of persistent hypoglycemia in newborns and infants. Recently, PMM2 (phosphomannomutase 2) mutation has been associated with HH, especially in conjunction with polycystic kidney disease (
Ratna Acharya, Kiran Upadhyay
doaj   +1 more source