Results 1 to 10 of about 1,710 (156)

In Silico 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 (
Bruno Hay Mele, Jessica Bovenzi, Giuseppina Andreotti, Maria Vittoria Cubellis, Maria Monticelli   +4 more
doaj   +2 more sources

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

Frontiers in Immunology
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 ...
Carlota Pascoal, Carlota Pascoal, Carlota Pascoal, Pedro Granjo, Pedro Granjo, Pedro Granjo, Rebeka Kodríková, Marta Falcão, Marta Falcão, Marta Falcão, Ana C. Santos, Ana C. Santos, Ana C. Santos, Inês Teodoro, Inês Teodoro, Inês Teodoro, Zuzana Pakanová, Marek Nemčovič, Jan Mucha, Margarida Castro-Caldas, Margarida Castro-Caldas, Ana R. Grosso, Ana R. Grosso, Vanessa dos Reis Ferreira, Vanessa dos Reis Ferreira, Vanessa dos Reis Ferreira, Paula A. Videira, Paula A. Videira, Paula A. Videira   +28 more
doaj   +2 more sources

Exploring a Circulating miRNA Signature for PMM2-CDG: Initial Insights Toward Diagnosis, Stratification, and Monitoring. [PDF]

J Inherit Metab Dis
ABSTRACT Phosphomannomutase deficiency (PMM2‐CDG) is the most common congenital disorder of glycosylation, characterized by variable early‐onset neurological (hypotonia, cerebellar syndrome, developmental delay) and multi‐organ manifestations. Although several clinical trials are ongoing, current biomarkers lack prognostic or monitoring utility ...
Epifani F, Cabus L, Nolasco GA, Bolasell M, Pérez J, Alcalá A, Fernández P, Lizano E, Márquez G, Belmonte S, Carbonell-Sala S, Lagarde J, Curado J, Hernando-Davalillo C, Serrano M.   +14 more
europepmc   +2 more sources

Repurposing the aldose reductase inhibitor and diabetic neuropathy drug epalrestat for the congenital disorder of glycosylation PMM2-CDG

DMM Disease Models and Mechanisms, 2019
Phosphomannomutase 2 deficiency, or PMM2-CDG, is the most common congenital disorder of glycosylation and affects over 1000 patients globally. There are no approved drugs that treat the symptoms or root cause of PMM2-CDG.
Sangeetha Iyer, Feba S Sam, Nina DiPrimio   +2 more
exaly   +3 more sources

Treatment of Single Patient With PMM2-Congenital Disorder of Glycosylation With Govorestat (AT-007), an Aldose Reductase Inhibitor. [PDF]

JIMD Rep
ABSTRACT Aldose reductase inhibitors (ARI) have been identified as a potential treatment for phosphomannomutase‐2 congenital disorder of glycosylation (PMM2‐CDG), a serious condition for which no treatments are approved. We treated a single patient for 36 months 30 months of age at enrollment, under a single‐patient investigational new drug expanded ...
Jalazo ER, Weisenfeld LA, Ligezka A, Perfetti R, Muenzer J.   +4 more
europepmc   +2 more sources

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

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   +2 more sources

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

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   +2 more sources

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

Frontiers in Endocrinology
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,
Giulia Del Medico, Lorenzo Ferri, Elena Procopio, Giosuè Annibalini, Elena Barbieri, Elena Barbieri, Rita Barone, Rita Barone, Renzo Guerrini, Renzo Guerrini, Amelia Morrone, Amelia Morrone, Stefano Stagi, Stefano Stagi   +13 more
doaj   +2 more sources

Polymorphic variants of ABCA1, PMM2, and ARHGEF12 genes and the risk of glaucoma in an Iranian population [PDF]

International Journal of Ophthalmology
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
Asghar Shayannia, Kobra Foroughi, Mohammad Hassan Emamian, Hassan Hashemi, Akbar Fotouhi   +4 more
doaj   +2 more sources

Expert-Designed Fact Sheets and AI-Based Analysis of Patient Symptoms to Combat Diagnostic Delays in Inherited Metabolic Diseases. [PDF]

J Inherit Metab Dis
ABSTRACT The importance of early diagnosis of inherited metabolic diseases (IMDs) is well known, as it allows early intervention to prevent or reduce complications and improve prognosis, since many of these disorders are treatable. However, diagnosis can still be delayed, and many patients remain undiagnosed. Reducing diagnosis delays is a primary goal
Cano A, Chen X, Khemiri A, Brassier A, Jean-Baptiste A, Froissart R, Bouchereau J, Hoebeke C, Mazodier K, Héron B, Labrune P, Caillaud C, Cheillan D, Nadjar Y, Pichard S, Imbard A, Pettazzoni M, Douillard C, Nadia B, Calatayud AL, Zerguini M, Garcelon N, Benoist JF, Acquaviva C, De Lonlay P, other members of the expert group consortium.   +25 more
europepmc   +2 more sources