Results 11 to 20 of about 1,603 (150)

Towards a therapy for phosphomannomutase 2 deficiency, the defect in CDG-Ia patients. [PDF]

Biochim Biophys Acta, 2009
Phosphomannomutase (PMM2, Mannose-6-P--> Mannose-1-P) deficiency is the most frequent glycosylation disorder affecting the N-glycosylation pathway. There is no therapy for the hundreds of patients who suffer from this disorder. This review describes previous attempts at therapeutic interventions and introduces perspectives emerging from the drawing ...
Freeze HH.
europepmc   +6 more sources

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

PMM2‐CDG caused by uniparental disomy: Case report and literature review [PDF]

JIMD Reports, 2020
Background Phosphomannomutase 2 deficiency (PMM2‐CDG) affects glycosylation pathways such as the N‐glycosylation pathway, resulting in loss of function of multiple proteins.
Laurien Vaes, George E. Tiller, Belén Pérez, Suzanne W. Boyer, Susan A. Berry, Kyriakie Sarafoglou, Eva Morava   +6 more
doaj   +2 more sources

Congenital disorders of glycosylation: narration of a story through its patents. [PDF]

Orphanet J Rare Dis, 2023
Congenital disorders of glycosylation are a group of more than 160 rare genetic defects in protein and lipid glycosylation. Since the first clinical report in 1980 of PMM2-CDG, the most common CDG worldwide, research made great strides, but nearly all of
Monticelli M, D'Onofrio T, Jaeken J, Morava E, Andreotti G, Cubellis MV.   +5 more
europepmc   +3 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

The clinical spectrum of phosphomannomutase 2 deficiency (CDG-Ia)

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 2009
Congenital disorders of glycosylation are a clinically and genetically heterogeneous group of disorders resulting from abnormal glycosylation of various glycoconjugates. The first description of congenital disorders of glycosylation was published in the early 80s and once screening tests for glycosylation disorders (CDGs) became readily available, CDG ...
Stephanie Grunewald
openaire   +5 more sources

Lipo-Glc-1,6-P₂: A Bioprecursor Prodrug for Phosphomannomutase-2 Congenital Disorder of Glycosylation. [PDF]

IUBMB Life
ABSTRACT Phosphomannomutase‐2 (PMM2) deficiency leads to the prominent Congenital Disorder of Glycosylation (CDG), a rare disease currently lacking effective treatment options. The complete absence of PMM2 activity is incompatible with life, and all patients carry at least one missense destabilising variant that allows residual enzymatic function. This
Sodano F, Monticelli M, Hay Mele B, Rolando B, Lazzarato L, De Simone A, Andrisano V, Paris D, Rimoli MG, Cubellis MV, Andreotti G.   +10 more
europepmc   +2 more sources

Bleeding Disorders in Children With Genetic Diseases: A Narrative Review. [PDF]

Acta Paediatr
ABSTRACT Aim The lack of data on bleeding risk assessment in children with genetic diseases is concerning given their increased care needs and risk of haemorrhagic complications compared to the general population. Identification of haemostatic disorders is crucial for implementing preventive measures and mitigating bleeding risk.
Cagol R, Sbeity Barakat M, Willems M, Akbaraly T, Christine BA, Diaz I, Theron A.   +6 more
europepmc   +2 more sources

Insight on molecular pathogenesis and pharmacochaperoning potential in phosphomannomutase 2 deficiency, provided by novel human phosphomannomutase 2 structures [PDF]

Journal of Inherited Metabolic Disease, 2021
AbstractPhosphomannomutase 2 (PMM2) deficiency, the most frequent congenital disorder of glycosylation (PMM2‐CDG), is a severe condition, which has no cure. Due to the identification of destabilizing mutations, our group aims at increasing residual activity in PMM2‐CDG patients, searching for pharmacochaperones.
Alvaro Briso‐Montiano, Francisco Del Caño‐Ochoa, Alicia Vilas, Adrián Velázquez‐Campoy, Vicente Rubio, Belén Pérez, Santiago Ramón‐Maiques   +6 more
openaire   +3 more sources

Identification of a Homozygous PGM2L1 Variant in a Male Patient With Developmental Delay and Seizures. [PDF]

Mol Genet Genomic Med
A rare homozygous variant in the PGM2L1 gene (NM_173582.6: c.1673delC, p.Thr558Ilefs*19) was identified in a patient presenting with developmental delay, seizures, and bilateral frontotemporal subarachnoid widening. ABSTRACT Background PGM2L1 gene variants are associated with developmental delays, seizures, and various neurological and physical ...
Niu M, Wang D, Jia S.
europepmc   +2 more sources